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Gene: Irf4 MGI:1096873

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Gene Summary

Name:
interferon regulatory factor 4
Synonyms:
Spip,  IRF-4

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
enlarged spleen Irf4em1(IMPC)Mbp HOM Early adult 0.00
abnormal thymus morphology Irf4em1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Irf4em1(IMPC)Mbp HOM Early adult 2.75×10-06
abnormal spleen morphology Irf4em1(IMPC)Mbp HOM Early adult 0.00
abnormal startle reflex Irf4em1(IMPC)Mbp HOM Middle aged adult 9.37×10-05
enlarged thymus Irf4em1(IMPC)Mbp HOM Early adult 0.00
decreased lymphocyte cell number Irf4em1(IMPC)Mbp HOM Early adult 2.70×10-06
abnormal lymph node morphology Irf4em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Irf4em1(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Irf4em1(IMPC)Mbp HOM Early adult 1.52×10-05

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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 Lateral Orientation

56 Images

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X-ray

XRay Images Whole Body Dorso Ventral

112 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Histopathology

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2 Images

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Histopathology

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11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Irf4 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 Irf4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Whipple Disease
Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Splenomegaly, Infectious encephalitis ORPHA:3452

The table below shows human diseases predicted to be associated to Irf4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Abnormal T cell count, Abnormal B cell count, Recurrent bacteri... OMIM:613495
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
B-cell lymphoma, Severe varicella zoster infection, Hodgkin lymphoma, Recurrent sinusitis, Spleno... OMIM:300853
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency 24
Defective T cell proliferation, Lymphoproliferative disorder, Reduced proportion of mucosal-assoc... OMIM:615897
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s... OMIM:618261
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C... OMIM:617514
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni... OMIM:614470
Immunodeficiency 84
Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in... OMIM:619437
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent bacterial infections, Partial ab... OMIM:240500
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Persistent EBV viremia, Decreased proportion of class-switched memory B cells, L... OMIM:619126
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Recurrent infections, I... OMIM:618982
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R... OMIM:619220
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent lower respiratory tract infections,... OMIM:613501
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Sepsis, Hemophagocytosis, Lymphadenopathy, Pancy... OMIM:615122
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i... OMIM:608971
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, B-cell lymphoma, T lymphocytopenia, Recurrent pneumonia, Sple... OMIM:619164
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Immunodeficiency 48
Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu... OMIM:269840
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurren... ORPHA:397596
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia OMIM:300299
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, D... OMIM:619281
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Recurrent viral infections, Recurr... OMIM:616873
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Persistent CM... OMIM:618495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia... OMIM:602450
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, Lymp... ORPHA:331206
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections... OMIM:615285
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Hepatomegaly, Recurrent ot... OMIM:612783
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Recurrent bacterial skin infections, Decreased lymphocyte proliferation in respons... ORPHA:911
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Abnormal immunogl... ORPHA:98813
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Lymphoma, Splenomegaly ORPHA:100025
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Recurrent viral infections, Thrombocytopenia, Lymph... ORPHA:169079
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 15B
Monocytosis, Decreased circulating antibody level, Agammaglobulinemia, Reduced natural killer cel... OMIM:615592
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, B lymphocytopenia, Recurrent pne... OMIM:150550
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Lymphoma, Increased circulating IgM level, S... ORPHA:37748
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 96
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... OMIM:619774
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory t... OMIM:616100
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased... OMIM:209950
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Monocytosis, Rec... ORPHA:2688
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Recurrent staphylococca... OMIM:607676
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki... OMIM:312863
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV... OMIM:614868
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur... ORPHA:331235
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, S... OMIM:612840
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... OMIM:615387
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r... ORPHA:35078
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Neoplasm of the skin, Abnormal lymp... ORPHA:3162
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis, Recurrent respiratory infections OMIM:618042
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased ci... OMIM:300635
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Splenomegaly, Recurrent respiratory in... OMIM:609981
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Recurrent candida infections, Hepatomegaly, Sepsis, Lymphadenopathy,... ORPHA:436159
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Jaundice, Panc... ORPHA:79124
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Recurrent infections, Acute pancreatiti... OMIM:618935
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Squamous cell carcinoma, Squamous cell carcinoma of the vulva, B ly... ORPHA:217390
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent Staphylococcus aureus infections, T lymphocytopenia, Opportunistic infection, Aplasia o... ORPHA:83471
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG2 level, Recurrent pne... OMIM:102700
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Reticular Dysgenesis
Sepsis, Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Decreased circulating a... OMIM:616910
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 32B
BCGitis, Hepatomegaly, Anemia, Recurrent infections, Monocytopenia, Abnormal circulating IgG leve... OMIM:226990
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Increased circula... ORPHA:3392
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absenc... OMIM:613496
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Whim Syndrome 1
Decreased circulating antibody level, Verrucae, Decreased circulating IgG level, Recurrent upper ... OMIM:193670
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:233710
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin... ORPHA:3261
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Verrucae, Decreased circu... ORPHA:275
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Recurrent candida infections, Recurrent Staphylococcus aureus infect... ORPHA:572
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:233690
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Immunodeficiency 9
BCGitis, Abnormal natural killer cell count, Recurrent infections, Hypoplasia of the thymus, Decr... OMIM:612782
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro... OMIM:616740
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Felty Syndrome
Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Recurrent infections, Recur... ORPHA:47612
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Bone marrow hypocellularity, Splenomegaly, Neoplasm ORPHA:391
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic anemia, Increased circu... OMIM:620603
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf... OMIM:242700
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Recurrent infections, Decreased circulating antibody level, Ascites, Micr... OMIM:301045
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopen... ORPHA:83313
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
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
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Immunodeficiency 68
Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti... OMIM:612260
Common Variable Immunodeficiency
Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchitis, Decreased circulating an... ORPHA:1572
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent infections, Increased circulating IgA level,... OMIM:260920
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Hepatomegaly, Lymphadenopathy, Neoplasm, Recurrent viral infections, Thrombocytopenia, Sp... ORPHA:169090
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumonia, Hepatospleno... OMIM:619750
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level... OMIM:304790
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph... OMIM:306400
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Recurrent pneumoni... ORPHA:353298
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Increase... OMIM:618282
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Acute lymphoblastic leukemia, ... ORPHA:486
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Recurrent infections... OMIM:617591
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Omenn Syndrome
Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Lymp... ORPHA:39041
Cyclic Neutropenia
Perianal abscess, Sepsis, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Too... ORPHA:2686
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Severe cytomegalovirus infection, Impaired lymphocyte transformation with phytohemagglutinin, B l... OMIM:619313
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Anemia, Increased ci... OMIM:620514
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infec... ORPHA:169105
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin... ORPHA:79140
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Recurrent lower respiratory tract infections, BC... OMIM:619644
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... OMIM:617099
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Meningit... OMIM:616050
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut... OMIM:616738
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pa... ORPHA:83469
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Abnormal circulating cytokine concentration, Jaundice, Hepatomegaly, H... ORPHA:540
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor... OMIM:614162
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph... ORPHA:514
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Neoplasm, Aplasia/Hypoplasia of the thymus, Re... ORPHA:100
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... OMIM:615518
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Re... OMIM:300972
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Rectal abscess, B lymphocytopenia, Recu... OMIM:601495
Babesiosis
Jaundice, Hepatomegaly, Recurrent pharyngitis, Recurrent infections, Leukopenia, Splenomegaly, Th... ORPHA:108
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Heme Oxygenase 1 Deficiency
Sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Lymphadenopathy, Aspleni... OMIM:614034
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholecystitis, Cholangitis, Recurrent tonsillitis, Viral hepatitis, Decreased specific pneumococc... ORPHA:183675
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Decreased circulating complement C3 concentration ORPHA:79087
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Joubert Syndrome 33
Splenomegaly OMIM:617767
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Kaposi Sarcoma
Neoplasm of the skin, Neoplasm by anatomical site, Hemangioma, Recurrent herpes, Abnormality of t... ORPHA:33276
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Sarcoma, Thrombo... ORPHA:69077
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Incr... ORPHA:158061
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Recurrent urinary tract infections, Meningitis, Abnormal T cell... OMIM:307200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Bloom Syndrome
Neoplasm of the skin, Malignant genitourinary tract tumor, Severe varicella zoster infection, Neo... ORPHA:125
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Specific Granule Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ... OMIM:617475
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Rectal abscess, Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent ... OMIM:116920
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia of the thymus, Lym... OMIM:208900
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Immunodeficiency 55
Lymphadenopathy, Recurrent infections, Lymphopenia, Absent natural killer cells, Myelodysplasia, ... OMIM:617827
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Recurrent infections, Increased circulating IgA level, P... OMIM:615934
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody... ORPHA:3318
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Hemophagocytic Syndrome Associated With An Infection
Severe cytomegalovirus infection, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer... ORPHA:158048
Mevalonic Aciduria
Splenomegaly ORPHA:29
Roifman Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent pneumonia, Splenomegaly, Eosinop... OMIM:616651
Macrocephaly/Autism Syndrome
Hepatomegaly, Recurrent otitis media, Recurrent infections, Decreased circulating antibody level,... OMIM:605309
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Increased circulatin... OMIM:620565
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Recurrent infections, Recurren... OMIM:214500
X-Linked Agammaglobulinemia
Sepsis, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Meningitis, Recu... ORPHA:47
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... OMIM:602347
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Mediastinal lymphadenopathy, Anemia, Pancytopenia, Bone marrow hypoce... OMIM:614742
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Recurrent infections... ORPHA:64743
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Recurrent infections, Leukocytosis, Increased ... OMIM:610377
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Proteus Syndrome
Lipoma, Hemangioma, Lymphangioma, Splenomegaly, Multiple lipomas OMIM:176920
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Legionnaires Disease
Sepsis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Bone marrow hypocellulari... ORPHA:549
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:620040
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Prolonged neona... OMIM:170100
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marrow hypocellularity, Leu... ORPHA:443811
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent otitis media, Pancytopenia, Recurrent infections... OMIM:615688
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to mitogen, B lym... ORPHA:221139
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent infections, Lymphoma, Cryoglobulinemi... ORPHA:33226
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly OMIM:615637
Whim Syndrome
Sepsis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, Cerv... ORPHA:51636
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Decreased circulating total IgG, Recurrent otitis media, Anemia, Lym... OMIM:619381
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, T-cell lymphoma, Impaired lymphocyte transformation with phytohemagg... OMIM:243150
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Hepatomega... OMIM:608233
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Recurrent p... OMIM:617718
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Splenic ... ORPHA:400
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:77259
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Immunodeficiency 12
Recurrent viral infections, Recurrent lower respiratory tract infections, Recurrent bacterial inf... OMIM:615468
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Neoplasm of the breast, Neoplasm of the respiratory system, Ne... ORPHA:2221
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Lymphoma ORPHA:99812
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgG level, Hepatosplenomegaly, Thromb... ORPHA:79330
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Chronic infect... ORPHA:520
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas... OMIM:612301
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Q Fever
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Meningitis, Granulom... ORPHA:781
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:607143
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Breast carcinoma, Melanoma, Colon cancer, Hepatosp... ORPHA:1333
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Recurrent respiratory infections, ... OMIM:613385
Chronic Granulomatous Disease
Sepsis, Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent respira... ORPHA:379
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the lung... ORPHA:424019
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly OMIM:256550
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Sialidosis Type 2
Ascites, Hepatomegaly, Splenomegaly ORPHA:87876
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Recurrent bacterial infections, Neutropenia OMIM:603585
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Ascites, Reduced circulating complement concentration, Lymphoma, S... ORPHA:36412
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Splenomegaly OMIM:230650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Recurrent lower respir... OMIM:226300
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:242860
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Lymphocytosis, Eosinophilia, Hepatitis, Infectious encephalitis ORPHA:139402
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Abnormal lymphocyte physiology... ORPHA:99867
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly, Recurre... OMIM:613489
Adams-Oliver Syndrome 6
Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Anemia of inadequate produ... ORPHA:231222
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Hamartomatous polyposis, Colon cancer... ORPHA:2930
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He... OMIM:615895
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormal platelet function, Recurrent bacterial skin infections, S... ORPHA:167
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Hema... ORPHA:2905
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Recurrent infections, Portal hypertension, Decreased circulating IgG le... OMIM:620005
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chronic mucocutaneous candidi... OMIM:615816
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Abdominal mass, Thrombocytopenia,... ORPHA:160
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Increased B ce... OMIM:620376
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased circulat... ORPHA:508533
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Increased circulating antibody level,... ORPHA:449432
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Pancytopenia, Rec... OMIM:614576
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circulating ant... ORPHA:90045
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Sepsis, Iron deficiency anemia, Lymphadenopathy, Reduced proportion ... ORPHA:37042
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia OMIM:618165
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulatin... ORPHA:293978
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Enlarged kidney, Recurrent bronch... OMIM:617303
Free Sialic Acid Storage Disease
Ascites, Hepatomegaly, Splenomegaly ORPHA:834
Meige Disease
Absence of lymph node germinal center, Angiosarcoma, Lymph node hypoplasia, Recurrent bacterial s... ORPHA:90186
Icf Syndrome
Anemia, Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections, Abno... ORPHA:2268
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Immunodeficiency 59 And Hypoglycemia
Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, Decreased proportion of class... OMIM:233600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sepsis, Neonatal sepsis, Anemia, Erythroid hypoplasia, Recurrent lower respirat... OMIM:612541
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Acute hepatiti... ORPHA:2137
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Neopla... ORPHA:723
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased circulating total IgM, Decrea... OMIM:210900
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Severe cytomegalovirus infection, Sepsis, Jaundice, Hepatomegaly, De... OMIM:619573
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, B-cell lymphoma, Recurrent respiratory infe... ORPHA:52417
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Meningitis,... ORPHA:809
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Lymphadenopathy, Lymphopenia, Ascites, Thrombo... ORPHA:93552
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver ORPHA:91138
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent respiratory i... OMIM:615207
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,... ORPHA:50918
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci... ORPHA:90363
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Thrombocytopenia, Lymphopenia OMIM:618624
Ebola Hemorrhagic Fever
Sepsis, Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, L... ORPHA:319218
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly... OMIM:606003
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomegaly, Testicula... OMIM:235200
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leiomyosarcoma, Adrenocortical adenoma, Phe... ORPHA:139411
Hennekam Syndrome
Lymphadenopathy, Decreased circulating antibody level, Ascites, Lymphangioma, Splenomegaly, Pulmo... ORPHA:2136
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Hepatomegaly, Splenomegaly, Impaired T cell function OMIM:201100
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Recurrent infections, Chronic hepat... ORPHA:39812
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Reticulocytopenia, Bone ... ORPHA:508542
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Primary testicular failure... ORPHA:85450
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Recurrent infections, Recurrent pneumonia, Splenomegaly, Decreased circulating IgA ... OMIM:613327
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Normocytic anemia, Lymphadenopathy, Normochrom... ORPHA:289390
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Cowden Syndrome 1
Recurrent infections, Carcinoma, Decreased circulating antibody level, Breast carcinoma, Hamartom... OMIM:158350
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level ORPHA:420741
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Recurrent otitis media, Recurrent lower respiratory tr... OMIM:620233
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Lymphocytosis, Recurrent infections, Ascites, Exo... ORPHA:1667
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Tangier Disease
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy OMIM:205400
Mirage Syndrome
Sepsis, Anemia, Recurrent urinary tract infections, Hypoplastic spleen, Thrombocytopenia, Leukope... OMIM:617053
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Recurre... OMIM:248500
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Circulating immune complexes, Abnormality of the lymphatic sys... ORPHA:2035
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Small intestine carcinoid, Pulmonary carcinoid tumor, Atyp... ORPHA:100093
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Sepsis In Premature Infants
Jaundice, Anemia, Hepatomegaly, Neonatal sepsis, Increased circulating interleukin 6 concentratio... ORPHA:90051
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG lev... ORPHA:1304
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Coccidioidomycosis
Coccidioidal meningitis, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Increased ci... ORPHA:228123
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphadenopathy, Recurrent respiratory infections, T lymphocytopenia, Rec... OMIM:607944
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent bronchopulmonary infections, Recurrent sinusitis, Leukopenia, S... OMIM:604173
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Pyoderma Gangrenosum
Increased circulating antibody level, Myelodysplasia, Myeloid leukemia ORPHA:48104
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Alveolar Echinococcosis
Jaundice, Anemia, Cholangitis, Liver abscess, Increased circulating antibody level, Abnormal sple... ORPHA:284
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Recurrent infect... OMIM:242900
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Enlarged kidney, Pancreatitis, Lymphadenopathy... ORPHA:449395
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Immunodeficiency 58
Chronic mucocutaneous candidiasis, Decreased circulating antibody level, Decreased specific antib... OMIM:618131
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Sepsis, Accessory sp... OMIM:619418
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Recurrent Asper... ORPHA:391487
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Iron deficiency anemia, Thro... OMIM:301074
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Recurrent infections, Neutropenia OMIM:258360
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Recurrent infections, Hypoplasia of the thymus... ORPHA:84064
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Neuroblastoma
Anemia, Lymphadenopathy, Neoplasm of the nervous system, Abdominal mass, Neuroblastoma, Thrombocy... ORPHA:635
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ... OMIM:602782
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Igg4-Related Ophthalmic Disease
Pancreatitis, Cholangitis, Lymphadenopathy, Increased circulating IgE level, Neoplasm of the lung... ORPHA:449563
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil... ORPHA:186
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Recurrent respiratory infections, Lymphopenia, Agammaglobulinemia, Abnormality of the pan... ORPHA:935
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Cryptorchidism OMIM:620365
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Relapsing Fever
Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Mcleod Syndrome
Acanthocytosis, Hepatomegaly, Splenomegaly OMIM:300842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Hepatocellular necrosi... OMIM:251880
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Sepsis, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pa... ORPHA:811
H Syndrome
Enlarged kidney, Recurrent pharyngitis, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Micro... ORPHA:168569
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Gaucher Disease Type 3
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splen... ORPHA:77261
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome... ORPHA:333
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, Glabellar hemangioma, T lymphocytopenia OMIM:618223
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis OMIM:249100
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplas... ORPHA:100085
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Recurrent pharyngitis, Leukocytosis, Splenomegaly, Peritonitis ORPHA:32960
Congenital Syphilis
Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy... ORPHA:499009
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Vici Syndrome
Chronic mucocutaneous candidiasis, T lymphocytopenia, Recurrent viral infections, Decreased propo... OMIM:242840
Fusariosis
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno... ORPHA:228119
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level OMIM:606056
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:608885
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf... OMIM:615846
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Recurrent infections, C... ORPHA:264580
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Splenomegaly, Peritonitis, Meningitis ORPHA:342
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Hepatomegaly, Recurrent otitis media, Lymphade... OMIM:256040
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic f... OMIM:232220
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Anemia, Splenomegaly, Primary hyperparathyroidism OMIM:239200
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Lymphoma, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Recurrent infections, Hepatocellular car... ORPHA:79240
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Aty... ORPHA:100075
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati... ORPHA:3260
Reynolds Syndrome
Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia OMIM:613471
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Mucopolysaccharidosis Type 7
Ascites, Hepatitis, Splenomegaly ORPHA:584
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Whipple Disease
Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Splenomegaly, Infectious encephalitis ORPHA:3452
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Interlobular bile duct destruction,... ORPHA:562639
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Sp... OMIM:181000
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Increased circulating antibody level, Neutrophilia in pr... ORPHA:99826
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Lymphoma, Bone marrow hypocellularity,... ORPHA:1775
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Lymphoma, Neuroblastoma, Decreased circulating IgG level, ... OMIM:223370
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Acute pan... ORPHA:99827
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Lassa Fever
Increased circulating IgM level ORPHA:99824
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neuroendocrin... ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level, Increased circ... ORPHA:79078
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Primary Ciliary Dyskinesia
Recurrent otitis media, Asplenia, Recurrent mycobacterial infections, Recurrent sinopulmonary inf... ORPHA:244
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Decreased circulating IgG level, Hepatic fibrosis, Thrombocytosis, Hepatic steatosi... OMIM:212065
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Patent Urachus
Recurrent urinary tract infections, Recurrent gram-negative bacterial infections ORPHA:431341
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Decreased circulating IgA level, Intestinal polyp ORPHA:457485
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Sepsis, Acute myeloid leukemia, Recurrent tonsillitis... ORPHA:2968
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Lymphadenopathy, Thrombocytopenia, Leukopenia,... ORPHA:536
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Zollinger-Ellison syndrome, E... ORPHA:100078
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:610717
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:222700
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr... OMIM:612132
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:565612
Lymphangioleiomyomatosis
Retinal hamartoma, Renal neoplasm, Lymphadenopathy, Recurrent respiratory infections, Abnormality... ORPHA:538
Cherubism
Submandibular lymph node enlargement OMIM:118400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Portal hypertension, Polycythemia, Copper accumulation in liver, Splenome... ORPHA:309854
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Recurrent urinary tract infections, ... ORPHA:731
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Liver Disease, Severe Congenital
Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomegaly, Hepatic stea... OMIM:619991
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea... ORPHA:79329
Chromomycosis
Recurrent bacterial infections ORPHA:182
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo... OMIM:263700
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Recurrent respiratory infections ORPHA:667
Postinfectious Vasculitis
Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i... ORPHA:48435
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Congenital Erythropoietic Porphyria
Squamous cell carcinoma, Neoplasm of the skin, Recurrent bacterial skin infections, Reticulocytos... ORPHA:79277
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Sarcoidosis
Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop... ORPHA:797
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Recurrent pharyngitis, Meningitis, Leukocytosis, Thrombocytos... ORPHA:2331
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Tay-Sachs Disease
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response ORPHA:845
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Hepatocellular carcinoma, Ascites, Splenomegaly... OMIM:276700
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... ORPHA:3243
Cystic Fibrosis
Nontuberculous mycobacterial pulmonary infection, Recurrent Staphylococcus aureus infections, Rec... ORPHA:586
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level, Anemia, Thrombocytopenia ORPHA:319251
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM l... ORPHA:505248
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Decreased circulating Ig... OMIM:618278
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adenocarcinoma of the colo... ORPHA:100079
Malakoplakia
Orchitis, Follicular hyperplasia ORPHA:556
Blau Syndrome
Anemia, Lymphadenopathy, Clear cell renal cell carcinoma, Splenomegaly, Abnormality of the liver ORPHA:90340
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Behçet Disease
Pancreatitis, Lymphadenopathy, Splenomegaly, Meningitis, Infectious encephalitis ORPHA:117
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenome... ORPHA:77293
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Multiple mucosal neuromas, Pheochromocytoma, Neoplasm of the lung, Neoplasm of... ORPHA:653
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Meningitis, Thrombocytopenia, Hepatitis ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Chronic mucocutaneous candi... OMIM:147060
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Monosomy 18Q
Astrocytoma, Decreased circulating IgA level ORPHA:1600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Recurrent bacterial i... ORPHA:470
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level, Splenomegaly OMIM:222470
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Anemia ORPHA:79396
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Anemia, Neutropenia ORPHA:175
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Testicular neoplasm, Neoplasm of the thymus, Enlarged polycyst... ORPHA:744
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Panhypogammaglobulinemia, Neutropenia ORPHA:33364
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen... ORPHA:2298
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Plague
Sepsis, Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Meningitis ORPHA:707
Thrombocytopenia-Absent Radius Syndrome
Anemia, Decreased circulating antibody level, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia,... OMIM:274000
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Hepatosplenomegaly, Anemia ORPHA:247598
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
African Trypanosomiasis
Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomegaly, Splenomegaly ORPHA:3385
Gaucher Disease
Anemia, Increased circulating antibody level, Pancytopenia, Splenic infarction, Splenic rupture, ... ORPHA:355
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Yellow Fever
Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,... ORPHA:99829
Viss Syndrome
Exostosis of the external auditory canal, Increased circulating IgG level, Increased circulating ... OMIM:619472
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Hereditary Sensory And Autonomic Neuropathy Type 4
Tooth abscess, Anemia, Abscess, Recurrent Staphylococcus aureus infections ORPHA:642
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Asplenia ORPHA:261552

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 Irf4

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 Irf4.

No publications found that use IMPC mice or data for Irf4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Irf4tm38920(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Irf4tm301408(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Irf4em1(IMPC)Mbp Exon Deletion Mice, Tissue

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