banner
Genes Phenotypes Help, News, Blog

Gene: Nlrp1a MGI:2684861

Log in to follow

Gene Summary

Name:
NLR family, pyrin domain containing 1A
Synonyms:
Nalp1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
microphthalmia Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Nlrp1aem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

28 Images

View images

Human diseases caused by Nlrp1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nlrp1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Increased circulating IgG ... OMIM:617388
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Chronic rhinitis OMIM:615225
Respiratory Papillomatosis, Juvenile Recurrent, Congenital
OMIM:618803
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
OMIM:606579

The table below shows human diseases predicted to be associated to Nlrp1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent pneumonia, Recurrent otitis media OMIM:243110
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 15B
Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced... OMIM:615592
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part... OMIM:618261
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Failure to ... OMIM:269840
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F... ORPHA:277
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Immunodeficiency 102
Anemia, Increased circulating interleukin 6 concentration, Partial absence of specific antibody r... OMIM:301082
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... OMIM:618987
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Decreased pro... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory i... OMIM:300988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Lymphadenopathy, Hypotension, Pericar... ORPHA:549
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, Eczemat... OMIM:608971
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,... OMIM:613501
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Pleural effusion, Leukocytosis, C... ORPHA:292
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased circulating total IgM, Decreased proportion of CD8-positiv... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymph... ORPHA:829
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Abnormal immunoglobulin level, Decreas... ORPHA:276
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Leukocytosis, Hypotension, Pericard... ORPHA:188
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Caspase 8 Deficiency
Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ... OMIM:607271
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Reduced natural killer c... OMIM:616050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Increased circulating IgM level, Reduced natural killer cel... OMIM:242860
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Skin rash, Cardiomyopathy, ... ORPHA:3386
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Palpitations, Recurrent pancreatitis OMIM:619290
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Scrub Typhus
Myocarditis, Lymphadenopathy, Skin rash, Hypotension, Hyperhidrosis, Splenomegaly, Anterior uveit... ORPHA:83317
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG level, Thrombocy... OMIM:620603
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Failure to thrive, Thrombocytopenia, Splenomegaly, ... OMIM:615285
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis OMIM:610551
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Emphysema, Panniculitis, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Keratoconjunctivitis sicca... ORPHA:809
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Dextrocardia, Recurrent lower respiratory tract infections, Bronchiectasi... OMIM:618254
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro... OMIM:613021
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Septic arthritis, Pneum... ORPHA:36234
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Arthritis, Abnormal heart v... ORPHA:3099
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Chylous Ascites
Pancreatitis ORPHA:1160
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased lym... OMIM:606367
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG level, N... OMIM:226990
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hypertension, Hepatomegaly, Pancreatitis ORPHA:79084
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis OMIM:211400
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegme... OMIM:245480
Brucellosis
Bronchitis, Granuloma, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, M... ORPHA:1304
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Skin... ORPHA:206569
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Agammaglobulinemia, Sinusitis, Conjunctivitis, Bronch... ORPHA:33110
Antisynthetase Syndrome
Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Arthriti... ORPHA:81
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent sinusitis, Recurrent pn... OMIM:615207
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Myocardial infarction, Mediastina... ORPHA:3452
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ... OMIM:618805
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia ORPHA:293964
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level... OMIM:243700
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Microsporidiosis
Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio... ORPHA:2552
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Neutropenia OMIM:616022
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia,... OMIM:209920
Rat-Bite Fever
Morbilliform rash, Myocarditis, Abdominal aseptic abscess, Anemia, Pancreatitis, Arthritis, Skin ... ORPHA:31205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myocardial infarction, Myositis, Arthritis, Skin rash, Hyp... ORPHA:183
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Abnormality of th... ORPHA:47
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Elevated circulating... ORPHA:69663
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Situs inversus totalis, Pneumonia, Recurrent otitis media, Chronic rhinitis... OMIM:612444
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:618523
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... OMIM:619386
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ... OMIM:613101
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... OMIM:304790
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Ar... ORPHA:47612
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi... OMIM:300755
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent resp... OMIM:300991
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit... ORPHA:31202
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Thrombocytopenia, Leukopenia ORPHA:27
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Failure to thrive, Decreased ... OMIM:615758
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ... ORPHA:572
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss ORPHA:2902
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Recurrent upper respiratory tract infections OMIM:620137
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu... OMIM:242700
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Bronchi... OMIM:620032
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Increased circulating lactate dehydrogenase conc... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Recurrent respiratory infections, Hepatitis ORPHA:363523
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Jaundice, Splenic abscess, Con... ORPHA:533
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent lower respiratory tract infections, Lymphade... OMIM:616100
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Elevated circulating hepatic transaminase concentration, Bradycardia, S... ORPHA:319213
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocy... OMIM:150550
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... OMIM:603552
Congenital Syphilis
Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Synovitis, Prolonged neonatal jaundice, Rhini... ORPHA:499009
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Failure to t... OMIM:618048
Shigellosis
Myocarditis, Acute colitis, Arthritis, Splenic abscess, Cholestasis, Leukocytosis, Hepatic failur... ORPHA:810
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Loeffler Endocarditis
Left atrial enlargement, Myocardial eosinophilic infiltration, Abnormal morphology of the chordae... ORPHA:75566
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:2137
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent ... OMIM:615451
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent otitis media, Recurrent sinusitis, Bronchiectasis, Recurrent re... OMIM:608644
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Catastrophic Antiphospholipid Syndrome
Myocarditis, Myocardial infarction, Angina pectoris, Arthritis, Abnormal heart valve morphology, ... ORPHA:464343
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Fa... OMIM:612782
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:618963
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Increased ci... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent upper respiratory ... OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Systemic Lupus Erythematosus
Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti... OMIM:152700
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating IgG level, Failure to thrive, Splenomegaly, De... OMIM:618495
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hereditary Chronic Pancreatitis
Jaundice, Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcifi... ORPHA:676
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ... ORPHA:50918
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615504
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Pleuritis OMIM:609939
Tularemia
Pneumonia, Cervical lymphadenopathy, Anemia, Increased circulating antibody level, Mediastinal ly... ORPHA:3392
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res... OMIM:307200
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pancreatitis, Vasculitis, Hypotension, Pneumonia, Shock ORPHA:70578
Immunodeficiency 31B
Herpes simplex encephalitis OMIM:613796
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Failure... ORPHA:911
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Acute pancreatitis, Th... ORPHA:319218
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Wilson Disease
Cirrhosis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... ORPHA:905
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Malignant Atrophic Papulosis
Pleural effusion, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Propiony... OMIM:606054
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Kawasaki Disease
Myocarditis, Congestive heart failure, Cheilitis, Abnormal pulmonary interstitial morphology, Jau... ORPHA:2331
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Arthritis, Skin rash, Vascul... ORPHA:727
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Avian Influenza
Pneumothorax, Congestive heart failure, Elevated circulating hepatic transaminase concentration, ... ORPHA:454836
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Pleural effusion, Exocrine pancreatic insufficiency, Pancrea... OMIM:167800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ... OMIM:256500
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ... ORPHA:294
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encepha... ORPHA:42642
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Leukopenia, Splen... OMIM:620210
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Elevated circulating hepatic transaminase concentration, Recurre... ORPHA:1572
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Bronchiectasis, R... OMIM:614679
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly... ORPHA:85414
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu... OMIM:607765
Microlissencephaly
Pneumonia ORPHA:1083
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Leukopenia, ... OMIM:251000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Congenital Isolated Acth Deficiency
Hypotension, Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenocorticotrop... ORPHA:199296
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Situs inversus totalis, Chronic rhinitis, Recurrent pneumonia, Bronchiectas... OMIM:617092
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hepatomegaly, Acute pancreatitis OMIM:608600
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615505
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Elevated circulating hepatic transaminase concent... OMIM:214950
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma... OMIM:607616
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia OMIM:610090
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... ORPHA:98848
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud ... OMIM:301080
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic... ORPHA:3260
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Situs inversus totalis, Pulmonary insufficiency, Chronic rhinitis, Bronchie... OMIM:614017
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia, Cor pulmonale OMIM:247610
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Erysi... OMIM:214900
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Vasculitis, Leukocytosis, Increased ... ORPHA:37748
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Generalized Eruptive Histiocytosis
Leukemia, Elevated total serum tryptase, Hypereosinophilia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf... OMIM:614868
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Acute pancreatitis, Pneumonia, Diffuse alveolar hemor... ORPHA:178320
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Recurrent pneumon... OMIM:615482
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent lower respiratory tract infections, Telangiectases of the cheeks, Recur... OMIM:615139
Yao Syndrome
Pleuritis, Arthritis, Skin rash, Xerostomia, Ventricular hypertrophy, Pericarditis, Inflammatory ... OMIM:617321
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Angina pectori... ORPHA:565612
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Hemo... OMIM:301078
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis OMIM:615872
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level OMIM:616069
Systemic Sclerosis
Myocarditis, Abnormal pulmonary interstitial morphology, Nail bed telangiectasia, Arthritis, Gast... ORPHA:90291
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Primary hypothyroidism, Lymphopenia, Thyroiditis, Patent foramen ovale, Pulmonary arterial hypert... ORPHA:391487
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly,... OMIM:611762
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Spider hemangioma, Cholestasis, Ascites,... ORPHA:171
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre... OMIM:618699
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Bronchiect... OMIM:615481
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Pleural empyema, Hypertension, Leukocytosis,... ORPHA:544482
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Chronic rhinitis, Recurrent pneumon... OMIM:611884
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:615297
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Leukocytosis, Hypovolemia, Cardiogenic shock,... ORPHA:31824
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hemochromatosis, Type 3
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Arthritis, Cardiomyop... OMIM:604250
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Abnormality of thyroid physiology, Ischemic stroke, Anemia, Pancreatiti... ORPHA:1830
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Abnorma... ORPHA:33355
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat... OMIM:232220
Neonatal Lupus Erythematosus
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, ... ORPHA:398124
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatome... ORPHA:79303
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,... OMIM:603554
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Pleuritis, Arthritis, Skin rash, Vasculitis, Leukocytosis, Ascites... ORPHA:342
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple... OMIM:269200
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hypertension, Hypertrophic cardi... ORPHA:79083
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro... ORPHA:228426
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, ... ORPHA:2348
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M... ORPHA:3226
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice, Infectious encephalitis ORPHA:205
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Elevated... ORPHA:540
Lead Poisoning
Abnormal T cell morphology, Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthe... ORPHA:330015
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Coccidioidomycosis
Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Incre... ORPHA:228123
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent bronchopulmonary infections, ... OMIM:219700
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Decreased circulating to... OMIM:619381
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Nanophthalmos
Microphthalmia ORPHA:35612
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Increased circulating IgA level, H... OMIM:612783
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Recur... ORPHA:117
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Arthritis, Vasculitis, Vi... ORPHA:91138
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Lymphopenia, Tooth absce... ORPHA:2686
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Elevated circulating hepatic transaminase concentration, Intrahepatic cho... OMIM:614921
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia ORPHA:431361
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respi... OMIM:616481
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Splenomeg... OMIM:613385
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Vasculitis in the skin, Splenomegaly, Recurrent upper respiratory tract inf... OMIM:620296
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly... OMIM:612387
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Selective Igm Deficiency
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:331235
Scorpion Envenomation
Myocarditis, Pulmonary edema, Congestive heart failure, Prominent U wave, Hypertension, Acute pan... ORPHA:466677
Sandhoff Disease
Congestive heart failure, Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:796
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Polyarteritis Nodosa
Pleuritis, Hypertension, Cardiomyopathy, Pericarditis, Abnormal lung morphology, Raynaud phenomenon ORPHA:767
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia OMIM:615524
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Adrenal in... ORPHA:231226
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Pancreatic islet cell ... ORPHA:892
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Elevated circulating hepatic transaminase conc... ORPHA:36426
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Bronch... OMIM:613193
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Situs inversus totalis, Dextrocardia, Rhinitis, Bronchiectasis, Chronic sin... OMIM:618063
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Situs inversus totalis, Chronic rhinitis, Bronchiectasis, Recurrent respira... OMIM:612650
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Gastrointestinal hemorrhage, Congestive heart failure, Chronic lymph... ORPHA:91139
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia ORPHA:67048
Pneumocystosis
Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ... ORPHA:723
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increased blood pr... OMIM:619487
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G... OMIM:619858
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Esophagitis, Hypertrophic ca... ORPHA:3342
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis... ORPHA:51636
C1Q Deficiency 2
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Malar ... OMIM:620321
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Pancreatitis, Anemia, Elevated circulating hepatic transaminase conc... ORPHA:537
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Cardiomyopathy, Splenomegaly, Arrhy... OMIM:602390
Granulomatosis With Polyangiitis
Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash... ORPHA:900
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating antibody level, Skin rash, Hypertension, Chilblains, Hematoche... OMIM:615846
Dermatomyositis
Elevated circulating hepatic transaminase concentration, Skin rash, Sinus tachycardia, Increased ... ORPHA:221
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic stea... OMIM:614480
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Exocrine pancreatic insuffici... OMIM:612714
Babesiosis
Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Recurrent pharyngitis, H... ORPHA:108
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts OMIM:248600
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Panniculitis, Elevated circulating hepatic transaminase concentration, Incr... OMIM:617591
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent ... OMIM:608647
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Anemia, Elevated circulating hepatic trans... ORPHA:67
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Pure red cell aplasia, Hashimoto thyroiditis, Primary adrenal ins... ORPHA:589
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Hyperparathyroidism OMIM:145980
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Drug-Induced Lupus Erythematosus
Anemia, Malar rash, Prolonged QTc interval, Pericarditis, Pericardial effusion, Thrombocytopenia,... ORPHA:231111
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:3469
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Bronchiectasis, Recurrent respirato... OMIM:616037
Typhoid
Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash,... ORPHA:99745
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Respiratory ... ORPHA:70587
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233710
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Cholesteryl Ester Storage Disease
Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Acute hepati... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Ciliary Dyskinesia, Primary, 51
Situs inversus totalis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respirat... OMIM:620438
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m... ORPHA:732
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Leukocytosis, Sple... OMIM:618042
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Hypertension, Cholestasis, Splenomegaly OMIM:105200
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung morphology, Nephritis, Increased... ORPHA:449427
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci... ORPHA:289390
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Re... OMIM:614935
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Increased circulating IgE level ORPHA:2314
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ... ORPHA:2584
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr... ORPHA:79301
Lichen Planopilaris
Hepatitis ORPHA:525
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent re... OMIM:613808
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Rhinit... ORPHA:93476
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism OMIM:145981
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Pancreatitis, Primary hypercortisolism, Increased circulating cortisol level OMIM:610475
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233690
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Br... ORPHA:99826
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased proportion of CD4-positive T cells ORPHA:477814
Rift Valley Fever
Hematemesis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Melena, I... ORPHA:319251
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline p... ORPHA:186
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Atopic dermatitis, Thrombocytopenia, Tetra... OMIM:618624
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... OMIM:208900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia OMIM:245590
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast... ORPHA:98850
Familial Mediterranean Fever
Hepatomegaly, Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Pericarditis... OMIM:249100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Myositis, Arthritis, Skin rash, Vasculitis, Le... ORPHA:32960
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Blepharitis, Thrombocytopenia,... ORPHA:158029
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Juvenile rheu... ORPHA:1855
Familial Chylomicronemia Syndrome
Perianal abscess, Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Pulmo... ORPHA:444490
Mucopolysaccharidosis Type 7
Ascites, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory infections, Hepatitis ORPHA:584
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Reticular pattern on pulmona... ORPHA:2032
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin... OMIM:613404
Glycogen Storage Disease Vi
Hypoglycemia OMIM:232700
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Reduced cystathionine beta-synthase activity in cultured fibroblasts, Mitral valve ... OMIM:236200
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary art... OMIM:601005
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Atelis Syndrome 1
Anemia, Eczematoid dermatitis, Hypothyroidism, Thrombocytopenia, Leukopenia, Bronchiectasis, Atri... OMIM:620184
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Nipah Virus Disease
Hypotension, Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Cirrhosis, Hepatomegaly, Colitis OMIM:614602
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension ORPHA:1164
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... OMIM:224100
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Good Syndrome
Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Pancytopenia OMIM:617872
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent... OMIM:613807
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ... ORPHA:133
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... OMIM:616278
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Intraalveolar phospholipid accumulation, Th... OMIM:222700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly, Reduced lysosomal acid lipase activity OMIM:620151
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transaminase concentration, Panc... OMIM:603553
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pa... ORPHA:20
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Jaundice, Pancreatitis, Anemia, Neoplasm of the pancreas, Ascites, Increased circula... ORPHA:370348
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Diffuse telangiectasia, Eczematoid de... OMIM:170100
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Cheilitis, Skin rash, Recurrent respiratory infections, Hepatitis ORPHA:1334
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Malar rash, Myositis, Skin rash, Increased circulating IgG level, Increased circulating I... OMIM:615934
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Chronic rhinitis, Hypothyroidism, Bronchiectasis OMIM:617577
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Rhinitis, Recurrent sinusitis, Bron... OMIM:615444
Chronic Granulomatous Disease
Liver abscess, Hepatomegaly, Mediastinal lymphadenopathy, Inflammatory abnormality of the eye, Ec... ORPHA:379
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Panniculitis, Abnormal cardiovascular system physiology, Hypertension, A... ORPHA:79086
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Seckel Syndrome 10
Congestive heart failure, Hypertension, Acute pancreatitis, Ventricular hypertrophy, Elevated cir... OMIM:617253
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Gaucher Disease Type 2
Recurrent respiratory infections, Hepatomegaly, Cardiac arrest, Splenomegaly ORPHA:77260
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal lymph no... ORPHA:54251
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hepatomegaly, Decreased liver function OMIM:238970
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Acute colitis, Hypertension, Leukocytosis, Reticulocytosis, Increased circulating l... ORPHA:90038
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Atelectasis, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, De... OMIM:306400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Enlarged kidney, Chronic neutropenia, Hypertension, Epistaxis, Pulmonary ... ORPHA:79259
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr... ORPHA:26791
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Pleuritis, Knee osteoarthritis, Pericarditis, Mitral valve prolapse,... ORPHA:2848
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Usual interstitial pneumonia, Thrombocyto... OMIM:620367
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Abnormal pericardium morphology, ... ORPHA:2357
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Lysinuric Protein Intolerance
Cirrhosis, Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Elevated circulating hepatic tra... ORPHA:470
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Bone marrow hypocellularity, Hyp... ORPHA:562
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Sinusitis, Otitis media, Bronchiectasis, Recurrent respirat... OMIM:606763
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Situs inversus totalis, Atelectasis, Recurrent bronchitis, Chronic rhinitis... OMIM:244400
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m... OMIM:240300
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Vasculitis in the skin, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Thyroiditis, Increased circulating IgE l... ORPHA:449563
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Hypoketotic hypoglycemia, Fasting hyp... ORPHA:276580
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Pancreatitis, Iridocyclitis ORPHA:412057
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Galactosemia Iii
Decreased beta-galactosidase activity, Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Increased circulating IgG ... OMIM:617388
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Roifman Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Eczematoid d... OMIM:616651
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Anhidrosis, Thrombocytopenia, Splenomegaly, ... ORPHA:169090
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Decreased acid ceramidase activity, Arthritis, Splenomegaly OMIM:228000
Acute Generalized Exanthematous Pustulosis
Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,... ORPHA:293173
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect OMIM:618652
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
African Trypanosomiasis
Myocarditis, Congestive heart failure, Iritis, Jaundice, Myelitis, Hepatomegaly, Lymphadenopathy,... ORPHA:3385
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Pancreatitis, Supra... ORPHA:280365
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hypotension, Hepatic failure, Tricuspid... ORPHA:97287
Citrullinemia Type Ii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hepatocellul... ORPHA:247585
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Glycogen Storage Disease Ic
Hepatomegaly, Chronic pancreatitis, Stomatitis, Spider hemangioma, Hepatocellular carcinoma, Hype... OMIM:232240
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr... ORPHA:131
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Gray Platelet Syndrome
Epistaxis, Thrombocytopenia, Splenomegaly ORPHA:721
Congenital Toxoplasmosis
Cardiomegaly, Microphthalmia, Hepatomegaly ORPHA:858
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp... OMIM:615688
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Hyperhidrosis, Splenomegaly ORPHA:391
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... ORPHA:90362
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Dysbetalipoproteinemia
Hepatomegaly, Angina pectoris, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis ORPHA:412
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Hypotension, A... ORPHA:199299
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pleural effusion, Hypotension... ORPHA:509
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir... ORPHA:64743
Glycogen Storage Disease Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hepatocellul... OMIM:232200
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:620211
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card... OMIM:610717
Yellow Fever
Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, S... ORPHA:99829
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly OMIM:261750
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Abnormality of the pul... ORPHA:290
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Gaucher Disease
Increased circulating antibody level, Leukopenia, Splenomegaly, Polyclonal elevation of IgM, Panc... ORPHA:355
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Skin... ORPHA:811
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia, Splenomegaly, Hepatomegaly OMIM:615637
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched me... OMIM:233600
Sweet Syndrome
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... ORPHA:3243
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Pulmonary ar... ORPHA:2414
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Increased circulating IgA level,... OMIM:260920
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Abnormal lymphocyte morphology, Failure to thrive, Severe B... ORPHA:293978
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypogly... ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Primary Ciliary Dyskinesia
Chronic otitis media, Situs inversus totalis, Recurrent otitis media, Atelectasis, Transposition ... ORPHA:244
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia OMIM:300887
Postinfectious Vasculitis
Gastrointestinal inflammation, Ischemic stroke, Increased circulating antibody level, Bacterial e... ORPHA:48435
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Abnormality of the pulmonary vasculature, Pancreatitis, Arteritis, Cresc... ORPHA:93126
Gaucher Disease Type 1
Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Pancytopenia, Splenic in... ORPHA:77259
Reynolds Syndrome
Cirrhosis, Jaundice, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Skin rash, Xerostomia, ... ORPHA:779
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Synovitis, Pustule, Osteomyelitis, Spl... ORPHA:77297
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Cholangitis, Intrahepatic cholestasis, Cholelithiasis, Hepato... ORPHA:53035
Nocardiosis
Pneumothorax, Scleritis, Liver abscess, Emphysema, Pleuritis, Thyroiditis, Abnormal heart valve m... ORPHA:31204
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Cirrhosis, Familial
Cirrhosis, Jaundice, Fulminant hepatitis, Hypertension, Biliary cirrhosis, Pulmonary arterial hyp... OMIM:215600
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Abs... OMIM:612852
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Panniculitis, Recurrent lower respiratory tract infections, B l... ORPHA:508542
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections OMIM:619468
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Letterer-Siwe Disease
Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutro... OMIM:246400
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia OMIM:618838
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Hepatomegaly OMIM:613730
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Icf Syndrome
Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperins... ORPHA:276575
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly OMIM:306000
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Decreased circulating antibody level, Te... ORPHA:100
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Acute Radiation Syndrome
Hypotension, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pn... ORPHA:454831
Mehmo Syndrome
Hypoglycemia OMIM:300148
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Syncope, Transi... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Chronic pancreatitis OMIM:613159
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Beta-Thalassemia Intermedia
Decreased liver function, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscul... ORPHA:231222
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... ORPHA:26793
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Ventricular septal defect, Hypop... ORPHA:436252
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ... OMIM:267700
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity ORPHA:2590
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Aspiration p... ORPHA:70588
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, R... OMIM:613489
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Elevated circulating alkaline phosphatase concent... ORPHA:247691
Poikiloderma With Neutropenia
Recurrent otitis media, Skin rash, Recurrent bronchopulmonary infections, Increased circulating l... OMIM:604173
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Leukocytosis, Abnorma... ORPHA:1451
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Pulmonar... OMIM:612541
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S... ORPHA:545
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hepatomegaly, Abnormal aortic valve morphology, Hypertrophic cardiomyop... ORPHA:1194
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern, Tachycardia ORPHA:264675
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Microphthalmia, Anophthalmia OMIM:613885
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Neutropenia OMIM:618253
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly OMIM:619183
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Congestive heart failure, ... ORPHA:525731
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Periodontitis, Lymphadenopathy, Spontaneous, re... OMIM:214500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism OMIM:600740
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Aspiration pneumonia, ... OMIM:619167
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Atrial septal defect, Pancreatitis OMIM:619471
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Emphysema, Lymphadenopathy, Inflammatory abnormality of th... ORPHA:36412
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concent... OMIM:615895
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Aortic regurgitation, Pancytopenia ORPHA:309288
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Vasculitis, Episclerit... ORPHA:575
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Elevated hemoglobin A1c, Trans... ORPHA:552
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, Recurrent respiratory inf... OMIM:607944
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor... OMIM:614162
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Diabetic ketoacidosis, Fasting hypoglycemia, Inc... ORPHA:2298
Yellow Nail Syndrome
Pleuritis, Neoplasm of the lung, Pulmonary arterial hypertension, Sinusitis, Rhinitis, Biliary tr... ORPHA:662
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Blau Syndrome
Iritis, Arthritis, Hypertension, Synovitis, Eczematoid dermatitis, Pericarditis, Nongranulomatous... OMIM:186580
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Reactive Arthritis
Recurrent aphthous stomatitis, Aortic regurgitation, Arthritis, Pericarditis, Pustule, Inflammati... ORPHA:29207
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adrenal insufficiency, Splenomegaly, Hepat... ORPHA:75233
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy OMIM:613155
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Propionic Acidemia
Hypoglycemia ORPHA:35
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula... ORPHA:555905
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Congestive heart failure, Hepatomegaly, Anemia, Macrovesicular hepatic stea... OMIM:617303
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul... OMIM:614576
Essential Thrombocythemia
Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormal platelet morphology, Splenomega... ORPHA:3318
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone... OMIM:127550
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr... ORPHA:3203
Relapsing Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Hypotens... ORPHA:91547
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Smith-Kingsmore Syndrome
Hypoglycemia, Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Failure to thrive, Decrease... OMIM:242840
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hypoglycemia OMIM:231100
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Malar rash, Arthritis, Skin rash, Discoid lupus rash, Lymphopenia, Myositis, Ple... ORPHA:93552
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Lymphadenopathy, Hypertension, Pleural effusion, Pericardial eff... ORPHA:79126
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Fasting hypoglycemia OMIM:613027
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Recurrent otitis media, Hepatomegaly, Cholelithiasis, Hypothyroidism, E... OMIM:618268
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Pulmonary artery atr... OMIM:620371
Generalized Pustular Psoriasis
Congestive heart failure, Cheilitis, Elevated circulating hepatic transaminase concentration, Art... ORPHA:247353
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Ascites, Increased circula... ORPHA:457077
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pul... OMIM:230800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Lyme Disease
Arthritis, Arrhythmia, Atrioventricular block, Infectious encephalitis, Uveitis ORPHA:91546
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, Accessory spleen, Decreased circulating IgG level, Severe B lym... OMIM:620005
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Neutral Lipid Storage Myopathy
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:98908
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Abnormal platelet function, Sinusitis, Abnormal platelet morph... ORPHA:906
Mirage Syndrome
Anemia, Patent ductus arteriosus, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia, ... OMIM:617053
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Bicuspid aortic valve, Decreased... OMIM:182410
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Abnormal heart morphology, Heart murmur ORPHA:1867
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Hypoglycemia, Decreased circulating IgA level, Decreased circula... OMIM:615577
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Arrhythmia OMIM:250220
Reni Syndrome
Hypoglycemia, Lymphopenia OMIM:617575
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Generalized lymphadenopathy, Intraventricular hemorrh... ORPHA:420741
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep... OMIM:269700
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia OMIM:619048
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Anemia, Concentric hypertrophic cardiomyopath... ORPHA:550
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Bloom Syndrome
Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Abnorm... ORPHA:125
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... OMIM:256550
Macrocephaly/Autism Syndrome
Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Lymphop... OMIM:605309
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Hypoglycemia, Neutropenia OMIM:251110
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:613471
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect OMIM:602501
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis OMIM:620365
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Splenomegaly OMIM:231000
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated c... OMIM:620609
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent otitis media, Atelectasis, Dextrocardia, Pulmonary arterial hyp... OMIM:615067
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati... OMIM:608594
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa... OMIM:606003
Cofs Syndrome
Microphthalmia ORPHA:1466
Giant Cell Arteritis
Recurrent pharyngitis, Arthritis, Vasculitis, Cerebral ischemia, Double outlet right ventricle wi... ORPHA:397
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Arthritis, Skin rash, Vasculitis, Cardiomyopathy, Angina p... ORPHA:93672
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Increased circulating IgE level OMIM:615508
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Alstrom Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Hepatomegaly, El... OMIM:203800
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Optic neuritis, Myelitis, Viral hepatitis ORPHA:83597
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recu... OMIM:158310
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundic... OMIM:620376
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly, Macrocytic anemia OMIM:619046
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Anemia of inadequate produ... OMIM:613673
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Pericardial effusion, Pleural effusion, Pneumothorax ORPHA:411703
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Wilson Disease
Cirrhosis, Jaundice, Anemia, Portal fibrosis, Hepatomegaly, Hypoparathyroidism, Hepatocellular ca... OMIM:277900
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Elevated circulating alanine aminotransferase ... OMIM:300842
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Situs inversus totalis OMIM:615434
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis OMIM:620080
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypothyroi... OMIM:212065
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E... OMIM:208540
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hyperhidrosis, Abnor... ORPHA:79264
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Multiple pulmonary cysts, Eczematoid dermatitis, Rheumatoid arthritis, R... ORPHA:79128
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Pleural effusion, Right ventricular failure, Chy... ORPHA:90363
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Macrocytic dyserythropoietic a... OMIM:224120
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Chédiak-Higashi Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormal leuko... ORPHA:167
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce... OMIM:603903
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia,... ORPHA:97279
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Anemia OMIM:618839
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Patent ductus arteriosus, Neutropenia OMIM:618005
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis... OMIM:210250
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Anhidrosis, Splenomegaly, Pancytopenia OMIM:614979
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Splenomegaly, Hepatic fibrosis,... OMIM:616589
Classic Galactosemia
Hypoglycemia, Abnormal erythrocyte enzyme concentration or activity ORPHA:79239
Immunodeficiency 87 And Autoimmunity
Hypertension, Cholestasis, Ascites, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, Jaun... OMIM:619573
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Asymmetric septal hypertroph... OMIM:252920
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neonatal hypoglycemia, Neutropenia ORPHA:445038
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Leukocytosis, Increased circulating IgD level, Normocytic hypop... OMIM:610377
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Microcytic anemia, T lymphocytopenia ORPHA:2959
Blau Syndrome
Large vessel vasculitis, Anemia, Lymphadenopathy, Xerostomia, Skin rash, Hypertension, Posterior ... ORPHA:90340
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly ORPHA:79237
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:415
Pierpont Syndrome
Microphthalmia ORPHA:487825
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Beta-Ketothiolase Deficiency
Hypoglycemia, Thrombocytosis, Hyperglycemia, Leukocytosis ORPHA:134
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Type I diabetes mellitus, Elevated hemoglobin A1c OMIM:616113
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia ORPHA:369
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Bone marrow hypocellularity, Throm... OMIM:603467
Fish-Eye Disease
Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Syndromic Diarrhea
Panhypogammaglobulinemia, Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic v... ORPHA:84064
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia OMIM:614833
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Weight loss, Eosinophilia... ORPHA:400
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Acute Liver Failure
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, S... ORPHA:90062
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Increased circulating antibo... OMIM:181000
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Pierpont Syndrome
Microphthalmia OMIM:602342
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Visceral Myopathy 1
Pancreatitis OMIM:155310
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Hypertension, Hepatomegaly, Acute pancreatitis OMIM:151660
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Low ch... OMIM:257220
Scheie Syndrome
Rhinitis, Hepatomegaly, Splenomegaly, Aortic regurgitation ORPHA:93474
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, Patent ductus arteriosus, T lymphocytopenia OMIM:618223
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Elevated jugular venous pressure, H... ORPHA:465508
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee... ORPHA:464329
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con... ORPHA:231214
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophilia, Hepatic cysts OMIM:617425
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H... ORPHA:729
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Patent foramen ovale, Abnormal heart morphology, Atrial septal defect, Ventricula... OMIM:618494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Spondylo-Ocular Syndrome
Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens ORPHA:85194
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Asymmetric septal hyp... OMIM:252900
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Th... OMIM:259700
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Glycosur... ORPHA:263455
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple... ORPHA:90033
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot OMIM:136760
Gm1 Gangliosidosis
Congestive heart failure, Cardiomyopathy, Aspiration pneumonia, Abnormal heart morphology, Hepato... ORPHA:354
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Thyroiditis, Biliary tract ... ORPHA:733
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Pancreatitis, Primary hyperparathyroidism, Pancreatic adenocarcinoma ORPHA:99880
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Atrial flutter, Congestive heart failure, Cardiomegaly, Re... ORPHA:980
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia ORPHA:90037
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Hypertension, Hyperhidrosis... ORPHA:340
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic necrosis, Hypoketotic hypoglycemia OMIM:231530
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Parathyroid Carcinoma
Shortened QT interval, Pancreatitis, Primary hyperparathyroidism, Pancreatic adenocarcinoma ORPHA:143
Myeloma, Multiple
Paraproteinemia OMIM:254500
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Pulmonary art... ORPHA:95430
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Non-Acquired Isolated Growth Hormone Deficiency
Neonatal hypoglycemia ORPHA:631
Mucopolysaccharidosis Type 6
Chronic otitis media, Abnormal heart valve morphology, Sinusitis, Splenomegaly, Recurrent upper r... ORPHA:583
Cryptococcosis
Pneumonia, Prostatitis, Cirrhosis, Mediastinal lymphadenopathy, Pleural effusion, Peritonitis, Ly... ORPHA:1546
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly OMIM:230900
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Patent ductus arteriosus, Decreased circulating total IgM, Hypog... OMIM:607143
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Laron Syndrome
Hypoglycemia ORPHA:633
Temtamy Syndrome
Microphthalmia ORPHA:1777
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circulating antibody ... ORPHA:77261
Meningococcal Meningitis
Skin rash, Hypotension, Infectious encephalitis, Shock ORPHA:33475
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia OMIM:245400
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Increased circulating IgE level, Cutaneous a... OMIM:147060
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Familial Hypocalciuric Hypercalcemia
Pancreatitis ORPHA:405
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Diabetes mellitus ORPHA:391408
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Bradycardia, Leukocytosis, Hypotension,... ORPHA:90051
Congenital Fibrinogen Deficiency
Microphthalmia, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:335
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale, Microphthalmia, Lens coloboma OMIM:618914
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic ane... OMIM:615512
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ... OMIM:602782
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia ORPHA:35708
Trisomy 13
Atrial septal defect, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular s... ORPHA:3378
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Lissencephaly 8
Microphthalmia OMIM:617255
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly, Recurrent respiratory inf... OMIM:617050
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia OMIM:618804
Waldenström Macroglobulinemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden... ORPHA:33226
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas... OMIM:612301
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:611134
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Joubert Syndrome 22
Microphthalmia OMIM:615665
Multiple Myeloma
Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... ORPHA:29073
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Abnormal heart morphology, Ventricular septal defect ORPHA:494344
Hennekam-Beemer Syndrome
Hypotension, Mastocytosis, Telangiectasia of the skin, Arrhythmia, Pneumonia ORPHA:2135
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio... OMIM:263200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
H Syndrome
Enlarged kidney, Recurrent pharyngitis, Abnormal cardiovascular system physiology, Lymphadenopath... ORPHA:168569
Biotinidase Deficiency
Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatitis, Skin rash, ... OMIM:253260
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decrea... ORPHA:760
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Splenomegaly, Polysplenia ORPHA:373
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Bra... OMIM:613327
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Ventricular septal defect, Anophthalmia ORPHA:77298
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Anemia ORPHA:230
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Sinus tachycar... OMIM:253200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Severe B lymphocytopenia, Decreased circulating total IgM, Failure to thrive ORPHA:83617
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis, Neoplasm of ... ORPHA:2796
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Recurrent hypoglycemia ORPHA:79644
Alveolar Echinococcosis
Liver abscess, Anemia, Increased circulating antibody level, Abnormal spleen morphology, Weight l... ORPHA:284
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypoinsulinemia, Type II diabetes mellitus ORPHA:453533
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Atrial septal defect, Ventricular s... OMIM:609053
Trichinellosis
Increased circulating IgE level ORPHA:863
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Hsd10 Disease, Infantile Type
Hypoglycemia ORPHA:391428
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Poems Syndrome
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Pleural effusion, Ascites, P... ORPHA:2905
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Infectious encephalitis ORPHA:2481
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten... ORPHA:71493
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro... OMIM:616028
Kapur-Toriello Syndrome
Microphthalmia, Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Neuroleptic Malignant Syndrome
Pulmonary embolism, Elevated circulating hepatic transaminase concentration, Bradycardia, Hyperte... ORPHA:94093
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Mercury Poisoning
Tachycardia, Interstitial pneumonitis, Hypertension, Hypotension ORPHA:330021
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia ORPHA:156
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Anemia, Fasting hypoglycemia, Abnormal erythrocyte enzyme concentration or activity, Splenomegaly... ORPHA:264580
Caffey Disease
Increased circulating antibody level ORPHA:1310
Sarcoidosis
Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Abnormal cardiac ... ORPHA:797
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Chronic irritative conjunctivitis, Neutropenia OMIM:258360
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Microphthalmia OMIM:243310
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Ascites, Aspiration pneumonia, Thrombocytopenia, Splenomegal... OMIM:301072
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hyperin... ORPHA:71212
Shashi-Pena Syndrome
Hypoglycemia, Patent ductus arteriosus OMIM:617190
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy ORPHA:370959
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Abnormal heart morphology, Aspiration pneumonia ORPHA:314655
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia ORPHA:348
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Fasting hypoglycemia, Ketotic hypoglycemia, Splenomegaly, Recurrent hypoglycemia ORPHA:79240
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Familial Tumoral Calcinosis
Hyperhidrosis, Skin rash, Hepatomegaly, Splenomegaly ORPHA:53715
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:369891
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Hyperglycemia OMIM:615453
Joubert Syndrome 37
Microphthalmia, Hepatomegaly OMIM:619185
Donohue Syndrome
Hyperinsulinemia, Hyperglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:246200
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia ORPHA:2126
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat... ORPHA:329918
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris, Atrial septal defect, Ventricular septal defect, Subvalvu... OMIM:613001
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Refsum Disease
Microphthalmia, Cardiomyopathy, Splenomegaly ORPHA:773
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Recurrent pneumonia, Hypohidrosis, Colitis OMIM:301220
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Anemia, Hypoglycemia OMIM:609069
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Glycogen Storage Disease Ii
Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Reduced mu... OMIM:232300
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Diabetes mellitus OMIM:616026
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
D-Glyceric Aciduria
Hypoglycemia, Patent ductus arteriosus OMIM:220120
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Cog8-Cdg
Hypoglycemia ORPHA:95428
Bloom Syndrome
Malar rash, Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribut... OMIM:210900
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Decreased circulating IgA level ORPHA:457485
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:1352
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Plague
Hematemesis, Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneum... ORPHA:707
Hennekam Syndrome
Lymphadenopathy, Chylothorax, Decreased circulating antibody level, Ascites, Erysipelas, Pericard... ORPHA:2136
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Patent ductu... OMIM:619472
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia OMIM:606407
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Hypertension, Re... ORPHA:64
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect OMIM:619135
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Thrombocytopenia ORPHA:99901
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:435638
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia ORPHA:35069
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Arthritis, Skin rash, Vasculitis, Episcleritis, Pustule, Orchitis, I... ORPHA:761
Cat Eye Syndrome
Microphthalmia, Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Te... OMIM:115470
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis OMIM:231680
Glycerol Kinase Deficiency
Chronic pancreatitis, Reduced glycerol kinase activity in cultured fibroblasts, Adrenal insuffici... OMIM:307030
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Ch... ORPHA:77293
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hepatosplenomegaly, Aspiration pneumonia, Decreased beta-galactosidase activity ORPHA:79255
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellula... ORPHA:505248
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Anemia OMIM:246450
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Leigh Syndrome
Hypoglycemia, Anemia, Neutropenia ORPHA:506
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Severe periodontitis, Anemia, Hepatomegaly, Leukocytosis, Neutrophilia, R... ORPHA:99843
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Myocardial necrosis, Granuloma, Sinusitis, Pustule, Respiratory t... ORPHA:68
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly, Mitral regurgitation OMIM:617809
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Pulmonary hypoplasia, Lymphopenia, Bronchiectasis, Interstit... OMIM:619708
Al Amyloidosis
Howell-Jolly bodies, Anemia, Increased circulating antibody level, Weight loss ORPHA:85443
Oculofaciocardiodental Syndrome
Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology ORPHA:2712
Chops Syndrome
Patent foramen ovale, Ventricular septal defect, Aspiration pneumonia, Splenomegaly, Anomalous pu... OMIM:616368
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, Hypothyroidism, Hyperthyroidism, Lymphopenia OMIM:158350
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atri... OMIM:253800
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertension, Pleural effusion, Pulmonary arterial hypertension, Spontan... OMIM:606721
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, Atrial septal defect, Ventricular septal defect,... OMIM:264480
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Seckel Syndrome 2
Microphthalmia OMIM:606744
Mucopolysaccharidosis Type 3
Chronic otitis media, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ... ORPHA:581
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Thrombocytopenia, Hypoglycemia OMIM:620423
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyp... ORPHA:2088
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Jaundice, Decreased circulating cortisol level ORPHA:90790
Incontinentia Pigmenti
Congestive heart failure, Skin rash, Cerebral ischemia, Retinal hemorrhage, Pulmonary arterial hy... ORPHA:464
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Infectious encephalitis ORPHA:447788
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ... OMIM:123700
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic hemangioma, Recurrent aspiration... ORPHA:73230
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Abnormal heart morphology OMIM:618571
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Neonatal hypoglycemia, Hypochromic microcytic anemia ORPHA:66634
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Gastroi... OMIM:276700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia ORPHA:2728
Occipital Horn Syndrome
Cholestasis, Jaundice, Hepatitis, Esophagitis ORPHA:198
3Q29 Microduplication Syndrome
Microphthalmia, Ventricular septal defect, Aniridia ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal heart morphology OMIM:610758
Marden-Walker Syndrome
Microphthalmia, Dextrocardia OMIM:248700
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cystic Fibrosis
Pneumothorax, Cirrhosis, Elevated circulating hepatic transaminase concentration, Recurrent lower... ORPHA:586
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Portal hypertens... ORPHA:309854
Japanese Encephalitis
Pulmonary edema, Increased circulating antibody level, Increased circulating IgM level, Neutrophi... ORPHA:79139
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia OMIM:608836
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Splenomegaly OMIM:608779
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia OMIM:605911
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:616449
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Poliomyelitis
Myelitis, Hypertension, Hypotension, Hypovolemic shock, Absent tonsils, Infectious encephalitis ORPHA:2912
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Hypoglycemia, Neutropenia ORPHA:79282
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:244300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Pituitary Apoplexy
Hypoglycemia, Normochromic anemia ORPHA:95613
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Re... OMIM:256040
Rodrigues Blindness
Microphthalmia OMIM:268320
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Joubert Syndrome 14
Microphthalmia, Ventricular septal defect OMIM:614424
Mosaic Trisomy 9
Microphthalmia, Dextrocardia, Abnormal heart valve morphology, Atrial septal defect, Ventricular ... ORPHA:99776
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Hepato... ORPHA:309282
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia OMIM:300952
Glutaric Acidemia I
Hypoglycemia OMIM:231670
Moebius Syndrome
Microphthalmia OMIM:157900
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia OMIM:620300
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Hepatomegaly, Bronchitis, Mitral valve calcification, Right ven... ORPHA:60025
Adams-Oliver Syndrome
Microphthalmia, Tetralogy of Fallot, Abnormal pulmonary valve morphology ORPHA:974
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Niemann-Pick Disease Type C
Jaundice, Hepatomegaly, Bone-marrow foam cells, Ascites, Aspiration pneumonia, Abnormal lung morp... ORPHA:646
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy, Arthritis, Skin rash, Synovitis, Enthesitis, Epistaxis... ORPHA:324625
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ... OMIM:245600
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste... OMIM:601186
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect OMIM:612530
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Anemia, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:619525
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Congenital Disorder Of Glycosylation, Type Iiaa
Hypoglycemia, Patent ductus arteriosus after premature birth OMIM:620454
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance, Patent ductus arteriosus OMIM:117550
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Down Syndrome
Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic system, Blepharitis, Polycy... ORPHA:870
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Cholera
Tachycardia, Hypovolemic shock, Hypotension, Aspiration pneumonia ORPHA:173
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:610832
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Patent ductus arteriosus, Neutropenia OMIM:617248
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Myositis, Arthritis, Abnormal cardiac septum morphology,... ORPHA:3310
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Anemia, Elevated circulating hepatic transaminase concentration, X... ORPHA:95455
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Phace Association
Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect OMIM:606519
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG4 leve... ORPHA:79078
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Sheehan Syndrome
Hypoglycemia, Normochromic anemia ORPHA:91355
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Degcags Syndrome
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Dysplastic pulmonary valve, Tachycard... OMIM:619488
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Microphthalmia, Left ventricular hypertrophy OMIM:619148
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Proximal Spinal Muscular Atrophy
Atrial septal defect, Recurrent aspiration pneumonia, Bradycardia, Recurrent infections due to as... ORPHA:70
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Fast... ORPHA:769
Martsolf Syndrome 1
Microphthalmia, Cardiomyopathy OMIM:212720
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Chronic rhinitis, Pulmonary arterial hypertension, Pulmona... ORPHA:667
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Conjunctivitis, Reduced e... OMIM:263700
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia OMIM:620646
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Cysticercosis
Increased circulating antibody level, Increased anti-parasite IgE antibody level, Abnormal myocar... ORPHA:1560
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Congenital Analbuminemia
Small for gestational age, Obesity, Increased circulating antibody level ORPHA:86816
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Fanconi Anemia, Complementation Group E
Microphthalmia, Abnormal heart morphology OMIM:600901
Cornelia De Lange Syndrome 1
Duplication of internal organs, Thrombocytopenia, Otitis media, Pneumonia, Ventricular septal defect OMIM:122470
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo... ORPHA:42775
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia OMIM:616878
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Infectious encephalitis ORPHA:847
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Lymphedema-Distichiasis Syndrome
Microphthalmia, Ventricular septal defect, Tetralogy of Fallot OMIM:153400
Fryns Syndrome
Microphthalmia, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:2059
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Histiocytoid Cardiomyopathy
Microphthalmia, Hepatomegaly, Congenital aphakia, Cardiomegaly, Ventricular septal defect ORPHA:137675
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis ORPHA:1272
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatocellular necrosis, Hypoglycemia, Recurrent hypoglycemia OMIM:256810
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Acute Adrenal Insufficiency
Normocytic anemia, Hypoglycemia ORPHA:95409
3Q29 Microdeletion Syndrome
Microphthalmia, Subvalvular aortic stenosis ORPHA:65286
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Steinfeld Syndrome
Microphthalmia, Abnormal heart morphology OMIM:184705
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia OMIM:617093
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Isolated Complex I Deficiency
Hypoglycemia, Diabetes mellitus ORPHA:2609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Alexander Disease
Hypertension, Hypotension, Hypothyroidism, Hyperhidrosis, Sudden cardiac death, Infectious enceph... ORPHA:58
Cohen Syndrome
Microphthalmia, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Fanconi Anemia, Complementation Group A
Microphthalmia, Abnormal heart morphology OMIM:227650
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Pneumothorax, Pyoderma, Anemia, Bradycardia, Pneumonia, Recurrent ... ORPHA:79404
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Holoprosencephaly
Hypoglycemia, Diabetes mellitus, Abnormality of the spleen ORPHA:2162
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect OMIM:206900
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Adams-Oliver Syndrome 1
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic va... OMIM:100300
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Microphthalmia OMIM:607323
Meckel Syndrome 14
Microphthalmia, Single ventricle OMIM:619879
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Hepatosplenomegaly OMIM:301066
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:464738
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia OMIM:609015
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Mitral valve prolapse OMIM:618874
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
1Q21.1 Microdeletion Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:250989
Addison Disease
Normocytic anemia, Type I diabetes mellitus, Thiamine-responsive megaloblastic anemia, Hypoglycemia ORPHA:85138
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Histiocytoid cardiomyopathy, Overriding aorta, Atrial septal defect, Ventricular ... OMIM:309801
Focal Dermal Hypoplasia
Microphthalmia, Ventricular septal defect, Hypoplasia of the iris, Abnormal cardiac septum morpho... ORPHA:2092
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Mosaic Trisomy 1
Microphthalmia, Ventricular septal defect ORPHA:1692
Fanconi-Bickel Syndrome
Glycosuria, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:227810
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion ORPHA:37202
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypoglycemia, Splenomegaly OMIM:252010
Digeorge Syndrome
Recurrent otitis media, Anemia, Atelectasis, Cholelithiasis, Seborrheic dermatitis, Truncus arter... OMIM:188400
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Patent ductus arteriosus ORPHA:17
Tay-Sachs Disease
Aspiration pneumonia, Abnormal circulating enzyme concentration or activity ORPHA:845
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Optic ne... ORPHA:508498
Teebi-Shaltout Syndrome
Aortic valve stenosis, Microphthalmia, Ventricular septal defect OMIM:272950
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:251014
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Anemia, Pancytopenia OMIM:613658
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:3008
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Micro Syndrome
Microphthalmia ORPHA:2510
Atelis Syndrome 2
Pulmonic stenosis, Microphthalmia, Supravalvar pulmonary stenosis OMIM:620185
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Hypohidrosis, Anhidrosis, Splenomegaly, Recurrent respiratory infections OMIM:612132
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect ORPHA:268249
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Marshall-Smith Syndrome
Hypertension, Pulmonary arterial hypertension, Aspiration pneumonia, Premature ventricular contra... OMIM:602535
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Macular hypoplasia, Microphthalmia OMIM:147791
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hypoketotic hypoglycemia ORPHA:157
Deeah Syndrome
Decreased hemoglobin concentration, Neonatal hypoglycemia, Thrombocytopenia OMIM:619004
Coffin-Siris Syndrome
Aspiration pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Recurrent upper respiratory... ORPHA:1465
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia ORPHA:746
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:293987
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Anophthalmia, Truncus arteriosus, Atrial septal defect ORPHA:2538
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Recurr... ORPHA:397715
Lassa Fever
Increased circulating IgM level ORPHA:99824
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Trisomy 18
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:3380
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Decreased sweating due to autonomic dysfunction, Orthostatic hypotension, Aspiration ... ORPHA:99027
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Cushing Disease
Decreased eosinophil count, Hypertension, Lymphopenia, Leukocytosis, Capillary fragility, Acne, I... ORPHA:96253
Fanconi Anemia, Complementation Group C
Microphthalmia, Ventricular septal defect OMIM:227645
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Aspiration pneumonia OMIM:619482
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Microphthalmia, Cardiac rhabdomyoma OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Microphthalmia, Syndromic 2
Microphthalmia, Dextrocardia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Mitral valv... OMIM:300166
Mend Syndrome
Aortic valve stenosis, Microphthalmia, Abnormal heart morphology ORPHA:401973
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:2166
Scleromyxedema
Paraproteinemia ORPHA:167635
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia OMIM:124000
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hypertrophic cardiomyopathy, Mitral valve... ORPHA:2556
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Syncope, Tooth abscess, Anhidrosis, Hyperhidrosis, Recurrent aspiration pneumonia, Orthos... ORPHA:642
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Aortic valve stenosis, Abnormal h... ORPHA:353281
Frontorhiny
Microphthalmia ORPHA:391474
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Renal tubular epithelial necrosis, Increased circulating a... ORPHA:91500
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia ORPHA:96182
Miller-Dieker Lissencephaly Syndrome
Abnormal heart morphology, Recurrent aspiration pneumonia OMIM:247200
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Monosomy 9Q22.3
Cardiac fibroma, Microphthalmia ORPHA:77301
Joubert Syndrome 2
Microphthalmia OMIM:608091
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Acro-Renal-Ocular Syndrome
Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia ORPHA:959
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Abnormal heart morphology, Cor pulmonale, Aspiration pneumonia ORPHA:2020
Fanconi Anemia, Complementation Group D2
Microphthalmia, Abnormal heart morphology OMIM:227646
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Tetralogy of Fallot, Complete atrioventricular canal defect OMIM:617925
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Microphthalmia, Subvalvular aortic stenosis ORPHA:1052
Oculodentodigital Dysplasia
Atrial septal defect, Microphthalmia OMIM:164200
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Microphthalmia, Tetralogy of Fallot ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Fanconi Anemia
Microphthalmia, Abnormal aortic valve morphology, Aplasia/Hypoplasia of the iris, Hypertrophic ca... ORPHA:84
Beckwith-Wiedemann Syndrome
Hypoglycemia, Neonatal hypoglycemia, Polycythemia, Splenomegaly ORPHA:116
Pallister-Hall Syndrome
Microphthalmia, Ventricular septal defect OMIM:146510
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia OMIM:617156
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Patent foramen o... ORPHA:444077
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Papillorenal Syndrome
Microphthalmia OMIM:120330
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
22Q11.2 Deletion Syndrome
Microphthalmia, Tricuspid atresia, Abnormal aortic valve morphology, Truncus arteriosus, Tetralog... ORPHA:567
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microphthalmia, Buphthalmos OMIM:236670
Myhre Syndrome
Microphthalmia, Aortic valve stenosis, Pericardial effusion, Atrial septal defect, Ventricular se... OMIM:139210
Menkes Disease
Hypoglycemia ORPHA:565
Opitz Gbbb Syndrome
Patent foramen ovale, Abnormal heart morphology, Recurrent aspiration pneumonia, Atrial septal de... ORPHA:2745
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Perlman Syndrome
Hypoglycemia OMIM:267000
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia, Ventricular septal defect OMIM:259770
Cockayne Syndrome Type 3
Microphthalmia, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:90324
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent foramen ovale, Ventricular septal defect, Microphthalmia OMIM:616975
Meckel Syndrome
Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:564
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Anophthalmia ORPHA:2526
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumoni... ORPHA:280633
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Recurrent... ORPHA:508
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atri... ORPHA:3472
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect OMIM:608670
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, In... ORPHA:79318
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Microphthalmia OMIM:613884
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris OMIM:223370
Trichothiodystrophy
Bilateral microphthalmos, Ventricular septal defect, Cardiomyopathy ORPHA:33364
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cousin Syndrome
Microphthalmia OMIM:260660
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Pancreatic adenocarcinoma, Abnormal lymph node morphology, Decreased e... ORPHA:99889
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Cockayne Syndrome B
Microphthalmia, Hepatomegaly, Splenomegaly, Hypoplasia of the iris OMIM:133540
Renpenning Syndrome 1
Situs inversus totalis, Microphthalmia, Tetralogy of Fallot, Atrial septal defect, Ventricular se... OMIM:309500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Anemia, Patent foramen ovale, Aspiration pneumonia, Hypothyroidism, Pulmoni... ORPHA:438213
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return OMIM:609945
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Patent foramen ovale, Microphthalmia, Right ventricular hypertrophy OMIM:620186
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Bartsocas-Papas Syndrome 1
Patent foramen ovale, Microphthalmia OMIM:263650
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia ORPHA:226307
Isolated Arrhinia
Microphthalmia ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Arboleda-Tham Syndrome
Chronic otitis media, Atrial septal defect, Recurrent otitis media, Pulmonic stenosis, Secundum a... OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis, Aortic valv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Pulmonic stenosis, Aortic valv... ORPHA:353277
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia, ... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia, ... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia, ... ORPHA:93924
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure ORPHA:501
Fryns Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:229850
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Fontaine Progeroid Syndrome
Microphthalmia, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve, A... OMIM:612289
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot ORPHA:306542
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia OMIM:229600
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections, Secundum atrial septal defect, Hypoplasia of the thymus OMIM:264090
Charge Syndrome
Microphthalmia, Abnormal aortic valve morphology, Anophthalmia, Tetralogy of Fallot, Abnormal car... ORPHA:138
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia ORPHA:3337
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Anophthalmia ORPHA:141099
Meckel Syndrome, Type 1
Microphthalmia, Splenomegaly, Abnormal cardiac septum morphology OMIM:249000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:289548
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Kabuki Syndrome 1
Atrial septal defect, Recurrent otitis media, Congenital hypothyroidism, Recurrent aspiration pne... OMIM:147920
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Costello Syndrome
Hypoglycemia OMIM:218040
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Secundum atrial septa... OMIM:214800
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Cockayne Syndrome
Microphthalmia, Hepatomegaly, Splenomegaly ORPHA:191
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Fraser Syndrome 2
Microphthalmia OMIM:617666
Holoprosencephaly 1
Microphthalmia, Single ventricle OMIM:236100
Williams Syndrome
Abnormal endocardium morphology, Cardiomegaly, Aplasia/Hypoplasia of the iris, Hypertrophic cardi... ORPHA:904
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Aicardi Syndrome
Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Traboulsi Syndrome
Microphthalmia OMIM:601552
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Neurooculorenal Syndrome
Recurrent hypoglycemia OMIM:620305
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Doors Syndrome
Double outlet right ventricle, Thrombocytosis, Aspiration pneumonia, Congenital hypothyroidism ORPHA:79500
Neu-Laxova Syndrome 1
Patent foramen ovale, Transposition of the great arteries, Ventricular septal defect, Microphthalmia OMIM:256520
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Atrioventricular canal defect, Optic nerve hypoplasia, Truncus arterios... ORPHA:508488
Aicardi Syndrome
Microphthalmia OMIM:304050
Monosomy 9P
Microphthalmia ORPHA:261112
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Neuroocular Syndrome
Patent foramen ovale, Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Roberts Syndrome
Microphthalmia ORPHA:3103
Mowat-Wilson Syndrome
Microphthalmia, Pulmonic stenosis, Abnormal heart morphology, Atrial septal defect, Ventricular s... OMIM:235730
Hydrolethalus Syndrome 1
Microphthalmia, Ventricular septal defect, Complete atrioventricular canal defect OMIM:236680
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Monosomy 13Q14
Microphthalmia ORPHA:1587
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology, Anophthalmia OMIM:219000
Townes-Brocks Syndrome
Microphthalmia, Tetralogy of Fallot, Atrial septal defect, Abnormal pulmonary valve morphology, A... ORPHA:857
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Microphthalmia ORPHA:672
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia OMIM:201750
Holoprosencephaly 2
Microphthalmia, Single ventricle OMIM:157170
Sotos Syndrome
Neonatal hypoglycemia, Acute lymphoblastic leukemia, Patent ductus arteriosus ORPHA:821
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia ORPHA:90794
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Tetralogy of... ORPHA:261537
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Mowat-Wilson Syndrome
Microphthalmia, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morphology, Tetralogy of... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Tetralogy of... ORPHA:261552
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:268300
Yunis-Varon Syndrome
Patent foramen ovale, Cardiomyopathy, Pulmonary arterial hypertension, Aspiration pneumonia, Tetr... OMIM:216340
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Craniofacial Microsomia 1
Microphthalmia, Ventricular septal defect, Tetralogy of Fallot, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Microphthalmia, Anophthalmia OMIM:309800
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Chronic rhinitis OMIM:615225
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
OMIM:606579
Respiratory Papillomatosis, Juvenile Recurrent, Congenital
OMIM:618803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nlrp1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nlrp1a.

No publications found that use IMPC mice or data for Nlrp1a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nlrp1atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nlrp1aem1(IMPC)Mbp Exon Deletion Mice, Tissue
Nlrp1atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter