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Gene: Pttg1 MGI:1353578

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Gene Summary

Name:
pituitary tumor-transforming gene 1
Synonyms:
PTTG,  securin

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
preweaning lethality, incomplete penetrance Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
small kidney Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
small spleen Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
small testis Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal cholesterol homeostasis Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 4.03×10-05
increased grip strength Pttg1tm1b(EUCOMM)Wtsi HOM   Early adult 3.21×10-07
increased circulating triglyceride level Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 6.72×10-06
abnormal seminal vesicle morphology Pttg1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating creatinine level Pttg1tm1b(EUCOMM)Wtsi HOM   Early adult 4.47×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Pancreas  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Section

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Immunophenotyping

Panel B FCS file(s)

1 Images

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Immunophenotyping

Panel A FCS file(s)

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Pttg1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pttg1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Pancytopenia, Decreased circulating antibody level, ... ORPHA:859
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impai... OMIM:155100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ... OMIM:618987
Immunodeficiency 102
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Partial absence of speci... OMIM:301082
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Transient neutropenia, Decreased circulating... OMIM:619707
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Amelogenesis imperfecta, Hepatomeg... OMIM:612783
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Gonadal dysgenesis, Decreased circulating total IgM, Decreased proportion of CD8-positive T cells... OMIM:611926
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6... OMIM:620430
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper... ORPHA:563609
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol... OMIM:232700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill... ORPHA:331206
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Mody
Abnormality of the kidney, Neonatal hypoglycemia, Hepatocellular adenoma, Large for gestational a... ORPHA:552
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia, Hyperglycemia, Diabetes mellitus OMIM:222100
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss... OMIM:604367
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Azoospermia,... OMIM:615703
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Attention deficit hyperactivity disorder, Decreased ci... OMIM:300310
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Sp... OMIM:620210
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperp... ORPHA:276575
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Leukopenia, Fasting hyperinsulinemia, Postprandial hype... ORPHA:2298
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, T... OMIM:615285
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Decreased testicular size, Obesity, Hypogonadism, Primary ame... OMIM:614962
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Spontaneous, recurrent epistax... ORPHA:182050
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet ... ORPHA:276556
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent urinary ... OMIM:614699
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 9
Amelogenesis imperfecta, Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased ... OMIM:612782
Gray Platelet Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle, Epistaxis,... ORPHA:721
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Complete or near-complete absence of specific antibody re... OMIM:613496
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating ... OMIM:603909
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem... OMIM:277480
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp... ORPHA:3318
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Polyphagia, Obesity,... ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Small for gestational a... OMIM:262190
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary ameno... OMIM:612526
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Leukopen... OMIM:613845
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circu... OMIM:209950
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Decreased circulating complement factor I concentration, Decrease... ORPHA:2134
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Donohue Syndrome
Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Long peni... OMIM:246200
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Nephronophthisis, Anemia, Stage 5 chronic kidney disease OMIM:606996
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, ... ORPHA:280356
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... OMIM:301081
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia, Renal insufficiency, Irregular m... OMIM:615986
Proteus-Like Syndrome
Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic ovaries, Abnorm... ORPHA:2969
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal... OMIM:620478
Leishmaniasis
Anorexia, Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibod... ORPHA:507
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus OMIM:610947
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy,... ORPHA:465508
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Bence Jones Proteinu... ORPHA:100024
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp... ORPHA:75234
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus OMIM:246650
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenom... OMIM:615559
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Abnormality of the lymphatic system, Cryptorchidism, Dysphagia ORPHA:638
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hyper... OMIM:617872
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunodeficiency 22
Anemia, Decreased circulating IgE, Panniculitis, Decreased circulating IgG level, Failure to thri... OMIM:615758
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Decreased circulating a... ORPHA:2585
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Hepatomegaly, Anemia, Hyper... OMIM:239200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome... OMIM:613101
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Decreased... OMIM:615577
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopen... OMIM:275350
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney... OMIM:613824
Sneddon Syndrome
Decreased circulating total IgM, Atrophic scars, Cerebral hemorrhage, Lymphopenia OMIM:182410
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Reduced circulating complement c... ORPHA:79237
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney... OMIM:619468
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Bloom Syndrome
Acute myeloid leukemia, Recurrent tonsillitis, Azoospermia, Decreased circulating antibody level,... ORPHA:125
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, Decreased circulating IgE, B lymphocytopenia, Recurrent urinary tract infect... OMIM:300755
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Abnormal bleeding, Acute myeloid leukemia, Normochromic anemia, ... ORPHA:75564
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Nephrolithiasis, Po... OMIM:606407
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Pancreatitis, Portal... OMIM:603471
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level... OMIM:304790
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Lipoatrophy, Glomerulopathy, Lymphocytosis, Mi... ORPHA:79087
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Hepat... OMIM:151660
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Internal hemorrhage, Abnormality of the men... ORPHA:90308
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Ataxia-Telangiectasia
Delayed puberty, Decreased circulating antibody level, Abnormal testis morphology, Failure to thr... ORPHA:100
Cystinosis, Nephropathic
Delayed puberty, Polydipsia, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Dys... OMIM:219800
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro... OMIM:616176
Acute Promyelocytic Leukemia
Leukopenia, Epistaxis, Metrorrhagia, Diffuse alveolar hemorrhage, Neutropenia, Anorexia, Abnormal... ORPHA:520
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Abnormal platelet function, Abnormal platelet morphology, Epi... ORPHA:906
Immunodeficiency 15B
Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced... OMIM:615592
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 54
Primary amenorrhea, Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Hepatomegaly, Proximal tubulopathy, Failure to thrive, Type I diabetes mellitus OMIM:560000
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Aplasia... ORPHA:33355
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly, Thrombocytopenia ORPHA:1980
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Epistaxis, Lymphopenia, ... OMIM:301000
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Recu... OMIM:618495
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,... OMIM:613501
Primary Myelofibrosis
Anorexia, Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Purpura, Pancytopenia, Petech... ORPHA:824
Hemophilia B
Cephalohematoma, Hematuria, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemor... ORPHA:98879
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Cryptorchidism, Nephrotic syndrome, Hyp... OMIM:617575
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Myotonic Dystrophy 2
Oligozoospermia, Insulin insensitivity, Decreased circulating IgG level, Elevated circulating fol... OMIM:602668
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel... ORPHA:276
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Anemia, Pancreatitis, Failure to thrive, Thrombocytopenia, Splenomegaly, ... ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Increased circulating antibody level, Failure to thrive secondary to recurrent infectio... ORPHA:169160
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Leukocytosis, Hyperglycemia, Weight loss, Hypoglycemia, Thromb... ORPHA:134
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin... OMIM:614076
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg... OMIM:278000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Mogs-Cdg
External genital hypoplasia, Hepatomegaly, Decreased circulating antibody level, Inappropriate an... ORPHA:79330
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Failure to thrive, Neutrophi... OMIM:226990
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia,... OMIM:602450
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Hypospadias, Decreased circulating antibody level, Micronodular cirrhosis... OMIM:301045
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa... OMIM:153670
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Decreased circulating IgG level, Failure to thrive, Small scrotum, Decreased circula... OMIM:607143
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated hemoglobin A1c, Splenomegaly, Umbilical hernia, Hepatic steatosis,... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Decreased ser... OMIM:608594
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Hepa... ORPHA:525731
Schaaf-Yang Syndrome
Polyphagia, Camptodactyly, Arthrogryposis multiplex congenita, Impulsivity, Skin-picking, Obesity... OMIM:615547
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased circulating total IgM, Sclerosing cholangitis, Increased circulating IgG level, Increas... OMIM:243700
Dyskeratosis Congenita, Digenic
Anemia, Decreased testicular size, Decreased circulating IgG level, Failure to thrive, Dysphagia,... OMIM:620040
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, External genital hypoplasia, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Congenital contracture OMIM:619036
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... OMIM:609812
Lambert Syndrome
Jaundice, Hypospadias, Inguinal hernia, Intrahepatic biliary atresia, Decreased circulating antib... ORPHA:1296
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Hypothyroidism, Decreased circulating IgG level, S... OMIM:620005
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Good Syndrome
Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Recurrent urinary tract infec... ORPHA:169105
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm of the liver, Abnormal prostate morphol... ORPHA:2126
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Failure to thrive, Intermittent thrombocytopenia, N... OMIM:616740
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Decreased body weight, Thrombocytopenia OMIM:613606
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Ketonuria OMIM:618857
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia,... OMIM:175700
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentratio... OMIM:615010
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrh... OMIM:616050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu... OMIM:606528
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat... ORPHA:79124
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le... OMIM:620603
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Increased circulating interleukin 6 ... OMIM:620376
Selective Igm Deficiency
Thyroid carcinoma, Decreased circulating total IgM, Decreased proportion of CD8-positive T cells,... ORPHA:331235
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Hepatic... OMIM:613550
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Hepat... OMIM:619013
Bloom Syndrome
Hepatic steatosis, Azoospermia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:210900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Pr... OMIM:215250
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubul... OMIM:256100
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalci... ORPHA:2088
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Failure to thriv... OMIM:619151
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Mirage Syndrome
Anemia, Hypospadias, Petechiae, Recurrent urinary tract infections, Adrenal hypoplasia, Decreased... OMIM:617053
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries... ORPHA:79084
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se... ORPHA:79083
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Cellulitis, Decreased circulating IgA level, Decreased proportio... OMIM:614878
Babesiosis
Anorexia, Jaundice, Hepatomegaly, Hyperhidrosis, Thrombocytopenia, Leukopenia, Splenomegaly, Rena... ORPHA:108
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia... ORPHA:399
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin... ORPHA:79085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Acute Monoblastic/Monocytic Leukemia
Anorexia, Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis... ORPHA:514
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Impulsivity, Hypogonadism, Hypothalamic luteinizing... ORPHA:398069
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocy... ORPHA:275555
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Decreased ... OMIM:615238
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Decreased testicu... OMIM:616222
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Cholestatic liver disease, Purpura, Jaundice, Anemia... ORPHA:540
Wolfram Syndrome 2
Abnormal bleeding, Diabetes insipidus, Neurogenic bladder, Decreased circulating antibody level, ... OMIM:604928
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Loss of facial adipose tissue, Loss of tr... OMIM:608612
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyp... OMIM:613677
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Lower-limb joint contracture, Pancreatic hypoplasia, Abnormality of th... ORPHA:99885
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Petechiae, Increased circulating IgM level, Thr... ORPHA:83313
Whim Syndrome 1
Abnormal female external genitalia morphology, Decreased circulating antibody level, Decreased ci... OMIM:193670
Nephronophthisis 4
Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atroph... OMIM:606966
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Hypospadias, Decreased circulating antibody level, Agammaglobulinemia... OMIM:616910
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Pancreatic And Cerebellar Agenesis
Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure t... OMIM:609069
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Aggressive Systemic Mastocytosis
Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Lymphade... ORPHA:98850
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc... ORPHA:528
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:85450
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis OMIM:177000
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Thrombocytopenia, Renal insufficiency ORPHA:3327
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Elevated circulating... ORPHA:567544
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... ORPHA:98826
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Unilateral renal ... OMIM:614576
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:67048
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, F... OMIM:619644
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia, Failure to thrive, Type I diabetes mellitus ORPHA:251009
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreas... ORPHA:435651
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Decreased circulating a... OMIM:618183
Gaucher Disease Type 1
Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Anorexia, Abnorm... ORPHA:77259
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Decreased libido, Polyphagia, Hyperhidrosis, Rep... ORPHA:33543
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Truncal ob... OMIM:203800
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Hepatomegaly, Hemolytic-uremic syndrome, Failure to thrive, Thrombocytop... OMIM:614727
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Petechiae, Hyperimidodipeptiduria, Pr... OMIM:170100
Rhabdoid Tumor
Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Internal hemorrhage, Thrombocytopenia, Weight... ORPHA:69077
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, Unil... ORPHA:221139
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Cholestatic liver disease, Hypochromic microcytic anemia, Anemi... ORPHA:440713
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance OMIM:617885
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Diabetes insipidus, Failure to thrive, Megacystis OMIM:304800
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ... OMIM:610644
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyperglycemia, Thrombocytopenia, Peritonitis, Small f... ORPHA:391673
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Nephrogenic diabetes insipidus, Failure to thrive, Megacystis OMIM:125800
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Cholestasis, Hypothyroidism, Neonatal death, Thrombocytopenia, Decreased ci... OMIM:608104
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria ORPHA:163690
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Ataxia-Telangiectasia
Delayed puberty, Abnormal spermatogenesis, Decreased circulating IgA level, Hypoplasia of the thy... OMIM:208900
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypothyroidism, Addictive alcohol use, Hyperglycemia, Cerebral hemorrhage, Hypopitu... ORPHA:90065
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Gl... OMIM:247800
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Panniculitis, Failur... OMIM:617591
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Purpura,... ORPHA:809
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:613554
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hypothyroidism, Sidero... OMIM:222300
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Flexion contracture, Hypogonadism OMIM:251240
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Ele... ORPHA:435660
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Hematuria, Petechiae, Gingival bleeding, Thrombocytopenia, ... ORPHA:3002
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepati... ORPHA:247585
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Sclerosing cholangitis, Neut... ORPHA:572
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi... OMIM:242900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Cryptorchidism, Diabetes mellitus, Male hypogonadism, Hepatic... OMIM:615381
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells... ORPHA:1830
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Renal magnesium wasting, Self... OMIM:618314
Roifman Syndrome
Lymphadenopathy, Decreased circulating antibody level, Hip contracture, Hepatosplenomegaly, Eosin... ORPHA:353298
Gitelman Syndrome
Delayed puberty, Polyuria, Polydipsia, Hypocalciuria, Renal potassium wasting, Enuresis, Increase... OMIM:263800
Lassa Fever
Abnormal bleeding, Jaundice, Increased circulating IgM level, Dysphagia, Oliguria, Menometrorrhagia ORPHA:99824
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circula... ORPHA:3392
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Increased circulating antibody level, Melena, Acu... ORPHA:319218
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal conce... OMIM:266900
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
X-Linked Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Failure to thrive, Throm... ORPHA:47
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro... OMIM:598500
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Failure to thrive, He... OMIM:242700
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell aplasia, Hypogo... OMIM:618165
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Annular pancreas, Bruising susceptibility, Knee fle... OMIM:618162
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Helix Syndrome
Polydipsia, Polyuria, Hypocalciuria, Xerostomia, Nephrolithiasis, Hypohidrosis, Anhidrosis, Renal... OMIM:617671
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, ... OMIM:606593
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepato... ORPHA:264580
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Crypto... ORPHA:228402
Smith-Kingsmore Syndrome
Large for gestational age, Thrombocytopenia, Umbilical hernia, Hypoglycemia, Cryptorchidism, Decr... OMIM:616638
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
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hyperprostaglandinuria, Impaired plat... OMIM:241200
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Hypoglycemia, Failure to thrive, Thrombocytope... OMIM:251000
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Failure to thrive in infancy ORPHA:858
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splenomegal... ORPHA:2348
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal bleeding, Anemia, Epidural hemorrhage, Abnormality of the lymphatic sys... ORPHA:464329
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroi... OMIM:617994
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri... OMIM:248250
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Agitation, Hypo... ORPHA:263455
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Leukocy... ORPHA:457077
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Rabson-Mendenhall Syndrome
Polydipsia, Clitoral hypertrophy, Increased circulating androgen concentration, Increased serum t... ORPHA:769
Macs Syndrome
Decreased body weight, Hypergonadotropic hypogonadism, Umbilical hernia, Bruising susceptibility,... OMIM:613075
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Urinary incontinence, Endometriosis, Recurrent urinary tract infe... OMIM:614075
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Hepatomegaly, Incr... ORPHA:508533
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce... ORPHA:381
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Recurrent tonsillitis, Recurrent urinary tract infections, Decreased ... ORPHA:183675
Roch-Leri Mesosomatous Lipomatosis
Purpura, Multiple lipomas, Thrombocytopenia ORPHA:529
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Renal hypoplasia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder... OMIM:620439
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Hypoplasia of peni... ORPHA:2849
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hepatomegaly... OMIM:614376
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Thrombocytopenia, Leukopenia, Lymphopenia, Aut... OMIM:301080
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Transaldolase Deficiency
Abnormality of the kidney, Cirrhosis, Anemia, Abnormal clitoris morphology, Thrombocytopenia, Hep... ORPHA:101028
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... OMIM:154230
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Atelis Syndrome 1
Anemia, Hypothyroidism, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, D... OMIM:620184
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Acholic stools, Pancreatic hypoplasia, Cholestasis, Hyperglyce... OMIM:615710
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja... ORPHA:64743
Propionic Acidemia
Cerebellar hemorrhage, Increased level of hippuric acid in urine, Anemia, Pancreatitis, Hepatomeg... OMIM:606054
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227982
Hereditary Folate Malabsorption
Anorexia, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circu... ORPHA:90045
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Polydipsia, Hypocalciuria, Renal potassium wasting, Enuresis, Incre... OMIM:612780
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstrua... ORPHA:79240
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg... OMIM:605309
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati... ORPHA:449432
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulatin... OMIM:617099
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Primary amenorrhea, Dorsocervical fat pad, Hyperinsulinemic h... OMIM:616033
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Prader-Willi Syndrome
Delayed puberty, Small scrotum, Adrenal insufficiency, Decreased response to growth hormone stimu... OMIM:176270
Lipodystrophy, Familial Partial, Type 7
Polyuria, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Imp... OMIM:606721
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Decreased body weight, Thrombocytopenia, Splenomegaly OMIM:231000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Enlarged kidney, Ovarian neoplasm, Diabetes insipi... ORPHA:744
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia, Renal insufficiency, Renal tub... ORPHA:289916
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hepatic steatosis ORPHA:363400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ... ORPHA:158029
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Polydipsia, Decreased glomerular filtration rate, Hyperchloriduria,... OMIM:602522
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Hypercal... OMIM:227810
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... ORPHA:329918
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Decreased circulating total IgG, Anemia, Anoperineal fistula, Lymphadenopathy, B lympho... OMIM:619381
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Failure to ... OMIM:613090
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Abnormal bleeding, Jaundice, Giant cell hepatitis, Small for gestation... OMIM:208085
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Arima Syndrome
Polydipsia, Polyuria, Cirrhosis, Nephronophthisis, Anemia, Hematuria, Hepatomegaly, Tubulointerst... OMIM:243910
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Attention deficit hyperactivity disorder, Hype... ORPHA:35878
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Ketonuria ORPHA:2089
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ... OMIM:612301
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Intestinal bleeding ORPHA:1059
Renal Hypoplasia, Bilateral
Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re... ORPHA:97362
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Prolonged prothrombin time, Premature ovarian insu... OMIM:212065
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Relapsing Fever
Prolonged prothrombin time, Acute kidney injury, Abnormal bleeding, Jaundice, Anemia, Hematuria, ... ORPHA:91547
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopen... OMIM:243500
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Snakebite Envenomation
Acute kidney injury, Abnormal bleeding, Gingival bleeding, Neuromuscular dysphagia, Thrombocytope... ORPHA:449285
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut... OMIM:616738
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Failure to thrive, Dysphagia, Motor stereotypy, Decreased ... DECIPHER:45
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Increased adipose t... OMIM:248370
Coach Syndrome 2
Elevated circulating creatinine concentration, Portal fibrosis, Hepatic fibrosis, Congenital hepa... OMIM:619111
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Pulmona... OMIM:603585
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Camptodactyly, Portal hypertension, Hypothyroidism, Hashimoto thyroid... OMIM:613385
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Celiac Disease, Susceptibility To, 1
Delayed puberty, Prolonged prothrombin time, Iron deficiency anemia, Macrocytic anemia, Thyroidit... OMIM:212750
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Hepatocellular carcinoma, Portal hypertension, Thrombocytopenia, Splenom... OMIM:619463
Malaria
Acute kidney injury, Thrombocytopenia, Anemia ORPHA:673
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive me... OMIM:249270
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Elevated circulating creatinine concentrati... OMIM:620366
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Anemia, Hepatomegaly, Abnormal vagina morphology, Thrombocytopenia, Ren... ORPHA:2123
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... ORPHA:47612
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Reduced renal corticomed... OMIM:603278
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Chondrocalcinosis, Hyperchloriduria, Hyperprostaglandinuria, Hypera... OMIM:601678
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Sepsis In Premature Infants
Abnormal bleeding, Jaundice, Anemia, Increased circulating interleukin 6 concentration, Hepatomeg... ORPHA:90051
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Fanconi Anemia, Complementation Group C
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:227645
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Glucose intolerance, Azoospermia, Hepatocellular carcinoma, Impotence, T... OMIM:235200
Renal Cysts And Diabetes Syndrome
Biliary tract abnormality, Decreased numbers of nephrons, Atretic vas deferens, Epididymal cyst, ... OMIM:137920
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormality of the hepatic vasculature, Bone marrow hypocellularity, Thrombo... ORPHA:210136
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Hyperacti... OMIM:607364
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,... OMIM:610377
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Abnormality of the kidney, Gastrointestinal hemorrhage, Purpura, Chr... ORPHA:91139
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Increased circulating antibody level, Abnorm... ORPHA:2905
Thyrocerebroretinal Syndrome
Goiter, Nephritis, Thrombocytopenia OMIM:274240
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Decreased circulating antibody level, Hypothyroidism, Hepatosplenomegaly, Microc... OMIM:619750
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease... ORPHA:470
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal re... OMIM:227650
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Small for g... OMIM:227646
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Secondary hyperaldosteronism, Intestinal bleedin... ORPHA:90363
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Panniculitis-Induced Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Abnormal immunoglobulin level, Absence of subcu... ORPHA:90159
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Polyphagia, Episodic hemolyt... ORPHA:251004
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Increased circulating IgG4 level, Cholecystitis, Urinary... ORPHA:449395
H Syndrome
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased t... ORPHA:168569
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD... ORPHA:101096
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Failure to thrive, Splenomegaly, Lipodystrophy, Flexion contractu... OMIM:613327
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia ORPHA:49827
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Focal segmental glomerul... OMIM:617303
Stt3B-Cdg
Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Thrombocytopenia, Leukopenia, Renal insuff... ORPHA:27
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia... OMIM:617052
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Type I diabetes mellitus ORPHA:290
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma... OMIM:150550
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Flexion contracture, Spl... ORPHA:85212
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Jaundice, Hepatomegaly, Hypokalemia, Polycystic ki... OMIM:613095
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Bone marrow hypocellularity, Failure to thrive, T... OMIM:614520
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Pancytopenia, Agitation, Renal arte... OMIM:615688
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy... ORPHA:1414
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Obesit... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Leprechaunism
Clitoral hypertrophy, Hyperinsulinemia, Enlarged kidney, Hepatomegaly, Fasting hypoglycemia, Long... ORPHA:508
Pearson Marrow-Pancreas Syndrome
Anorexia, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Small for gestational age, Pancy... OMIM:557000
Ring Chromosome 21 Syndrome
Diabetes insipidus, Azoospermia, Infertility, Decreased circulating antibody level, Amenorrhea ORPHA:1445
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Alg12-Cdg
Prolonged prothrombin time, Hypospadias, Partial absence of specific antibody response to Haemoph... ORPHA:79324
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Stormorken Syndrome
Abnormal bleeding, Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thromboc... OMIM:185070
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Increased circulating antibody ... ORPHA:400
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia, Ketonuria OMIM:615453
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... OMIM:617388
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Retrograde ... ORPHA:49041
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hyperhidrosis, Epistax... ORPHA:340
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... OMIM:137560
Q Fever
Anorexia, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, H... ORPHA:781
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Brucellosis
Granuloma, Intrarenal abscess, Hyperhidrosis, Leukopenia, Splenomegaly, Anorexia, Increased circu... ORPHA:1304
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Fanconi Anemia, Complementation Group E
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:600901
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, He... ORPHA:369
Riddle Syndrome
Intraventricular hemorrhage, Enuresis nocturna, Decreased circulating IgG level, Weight loss, Dec... ORPHA:420741
Luscan-Lumish Syndrome
Polyphagia, Obesity, Polycystic ovaries, Irregular menstruation, Aggressive behavior OMIM:616831
Atypical Werner Syndrome
Delayed puberty, Lipoatrophy, Hypogonadism, Fasting hyperinsulinemia, Hepatic steatosis, Chondroc... ORPHA:79474
Joubert Syndrome 10
Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums OMIM:300804
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Abnormality of the... ORPHA:29073
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Recurrent urinary tract infections, Cutaneous anergy, Vira... OMIM:209920
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Inappropriate antidiuretic hormone secretion, Hyperhidrosis, ... ORPHA:99827
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Thrombocytopenia, Lymphopenia OMIM:618624
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Transaldolase Deficiency
Clitoral hypertrophy, Cirrhosis, Anemia, Hepatomegaly, Pancytopenia, Failure to thrive, Thrombocy... OMIM:606003
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia, Impotence, Dysphagia OMIM:615750
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Delayed puberty, Tubu... ORPHA:79259
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Decreased circulating IgG le... ORPHA:275
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Compulsive behaviors, Polyphagia, Decreased tes... OMIM:612469
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Anemia, Hematuria, Leukocytosis, Thrombocytope... ORPHA:90060
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormality of the thyroid gland OMIM:182290
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Inguinal hernia, P... OMIM:612541
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level, Infertility OMIM:615872
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Increased circulating interleukin... ORPHA:160
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins... ORPHA:79086
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Common Variable Immunodeficiency
Purpura, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnorm... ORPHA:1572
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Inguinal hernia, B lymphocytopenia, Pancreatic hypoplasia, Biliary ... ORPHA:83617
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Pituitary adenoma, ... OMIM:300942
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Hypospadias, Hyperactivity, Cryptorchidism, Dec... ORPHA:457485
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Pseudo-Torch Syndrome 1
Jaundice, Hepatomegaly, Petechiae, Failure to thrive, Thrombocytopenia, Splenomegaly, Umbilical h... OMIM:251290
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Hemorrhagic ovarian cyst, Gingival bleeding, Inter... ORPHA:335
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pancreatitis, Leukocytosis, Weight loss, Oliguria, Renal insuff... ORPHA:188
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Dysphagia, Pancreatic fibrosis, Hepat... ORPHA:699
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Homocystinuria, Inguinal hernia, Cryptorchidism, Failure to thrive, Thromboc... OMIM:614857
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Long-chain... OMIM:608836
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Recurrent urinary tract infections, Decreased proportion of naive T... ORPHA:83471
Autoimmune Hepatitis
Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosin... ORPHA:2137
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Abnormality of the ureter, Precocious puberty, Hypothyroid... ORPHA:819
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... ORPHA:444490
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Increased circulating antibody level, Reticulocytosis, Leukopenia, Ly... ORPHA:99826
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Impulsivity, Hyperglycemia, Thrombocytopenia, Hypoglycemia OMIM:620423
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Dysphagia, Camptodactyly OMIM:619751
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Secondary Short Bowel Syndrome
Primary hypothyroidism, Cholestasis, Polyphagia, Central hypothyroidism, Failure to thrive, Weigh... ORPHA:95427
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea... OMIM:274150
Pediatric Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Hematuria, Lymphadenopathy, Abnormality of the... ORPHA:93552
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Shigellosis
Anorexia, Acute kidney injury, Urethritis, Purpura, Hemolytic-uremic syndrome, Splenic abscess, C... ORPHA:810
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Glomerulonephritis, Abnormal l... ORPHA:99867
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Sengers Syndrome
3-Methylglutaconic aciduria, Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of toe, Increased circulating antibody level, Impaired glucose tolerance, Fle... OMIM:256040
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Vesicoureteral refl... OMIM:603467
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Hepatomegaly, Recurrent hand flapping, Compulsive behaviors, ... ORPHA:3008
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Hyperlipidemia, Proteinuria, Chronic kid... ORPHA:439232
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-p... ORPHA:328
Storage Pool Platelet Disease
Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Decreased mean platelet volume OMIM:185050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Decreased circulating ... OMIM:226300
Yellow Fever
Hematemesis, Acute kidney injury, Prolonged prothrombin time, Jaundice, Increased circulating int... ORPHA:99829
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Dentinogenesis Imperfecta
Grayish enamel, Generalized hypoplasia of dental enamel, Bruising susceptibility, Odontodysplasia... ORPHA:49042
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Nephrocalcinosis OMIM:620152
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Dicarboxylic aciduria, Nonketotic hypoglycemia... ORPHA:99901
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Portal hypertension, Hepa... OMIM:251880
Sitosterolemia 1
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati... OMIM:210250
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Hyperactivity, Delayed menarche, Recurrent hand ... ORPHA:72
Cog4-Cdg
Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly, Cirrhosis ORPHA:263501
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenom... ORPHA:398124
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Rift Valley Fever
Hematemesis, Anorexia, Abnormal bleeding, Jaundice, Anemia, Hematuria, Melena, Increased circulat... ORPHA:319251
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Inguinal hernia, Polycystic kidney dysplasia, ... ORPHA:84064
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Polyuria, Hypercalciuria, Medullary nephrocalcinosis OMIM:300971
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... ORPHA:35858
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, Subcutaneous lipoma, Hypothyroidism, Varicocel... OMIM:158350
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splen... ORPHA:731
Al Amyloidosis
Abnormality of the kidney, Renal interstitial amyloid deposits, Abnormal salivary gland morpholog... ORPHA:85443
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia, Flexion contracture OMIM:612952
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Increased circulating IgM level, Reduced natural killer cel... OMIM:242860
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Reduced antigen-specific T cell proliferation, Eo... OMIM:616433
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia, Bilateral cryptorchidism ORPHA:1715
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Autosomal Agammaglobulinemia
Failure to thrive, Cellulitis, Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Second... ORPHA:280365
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Prolonged prothrombin time, Enlarged kidney, Cirrhosi... OMIM:276700
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Dysuria, Dyspareunia, Thrombocytopenia, Dyspha... ORPHA:36426
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the... ORPHA:110
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia, ... OMIM:613989
Caroli Syndrome
Hematemesis, Leukopenia, Abnormal intrahepatic bile duct morphology, Abnormality of the kidney, A... ORPHA:480520
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Inguinal hernia, Hydrocele testis, Thro... ORPHA:96181
Glycogen Storage Disease Iii
Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Specific Granule Deficiency 2
Amelogenesis imperfecta, Anemia, Failure to thrive, Thrombocytopenia, Absent neutrophil specific ... OMIM:617475
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Spontaneous, recurrent epistax... OMIM:214500
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Primary adrenal insuffi... ORPHA:261476
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Abnormal bleeding, Proximal tubulopathy, Renal cyst, F... OMIM:602579
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism OMIM:620365
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Leukopenia,... ORPHA:811
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Panhypogamma... OMIM:307200
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, He... ORPHA:294
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hypoglycemia, Methylmalo... OMIM:251110
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Schistocytosis, Lymphopenia, Leukop... OMIM:301110
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Papa Syndrome
Type I diabetes mellitus, Increased circulating antibody level, Lymphadenopathy, Proteinuria ORPHA:69126
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Abnormal bleeding... OMIM:616271
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Biliary cirrhosis, Leukopenia, Lymphop... ORPHA:289390
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Enuresis OMIM:616260
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Jaundice, Anemia, Xanthelasma, Steatorrhe... ORPHA:275761
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleedi... OMIM:203300
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb... OMIM:301050
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Failure to ... OMIM:617941
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Ureteral duplication, Inguinal hernia, Biliary atresia, Pancreat... OMIM:600001
Dermatosparaxis Ehlers-Danlos Syndrome
Scarring, Inguinal hernia, Femoral hernia, Prolonged bleeding time, Hernia, Hiatus hernia, Abnorm... ORPHA:1901
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Increased circulating IgA level, Failure to thrive, Para... OMIM:615934
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Scorpion Envenomation
Acute kidney injury, Purpura, Acute pancreatitis, Glycosuria, Hyperhidrosis, Priapism, Hyperglyce... ORPHA:466677
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d... OMIM:214110
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ... ORPHA:64744
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Hematuria, Anemia, Petechiae, Thrombocytopenia... ORPHA:231111
Isolated Biliary Atresia
Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Severe failure to thrive, Periport... ORPHA:30391
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the... ORPHA:79329
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Anorexia, Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocy... ORPHA:20
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Increased circulating interleukin 6 concentration, Pancreatitis, Decreased u... ORPHA:544482
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Cholestasis, Splenomegaly, Polyclonal elevation of IgM, Type I diabet... ORPHA:171
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Umbi... OMIM:169400
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Dicarboxylic aciduria, Jaundice, Macrovesicular hepatic steatosis, He... OMIM:613070
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Incre... ORPHA:79078
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Arthrogryposis mu... OMIM:301056
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Neuroblastoma
Abnormal bleeding, Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinar... ORPHA:635
Aicardi-Goutieres Syndrome 1
Purpura, Hepatomegaly, Diabetes insipidus, Petechiae, Hypothyroidism, Prolonged neonatal jaundice... OMIM:225750
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Increased ci... OMIM:615816
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thriv... OMIM:124000
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Increased circulating free fatty acid level, Hypercholest... ORPHA:2457
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Thrombocytopenia, Leukop... ORPHA:99828
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cerebral hemorrhage, Conge... OMIM:618886
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos... ORPHA:1606
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly... OMIM:618885
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Decreased circulating antibody level ORPHA:99811
Lujo Hemorrhagic Fever
Purpura, Fulminant hepatitis, Leukocytosis, Microscopic hematuria, Hyperhidrosis, Thrombocytopeni... ORPHA:319213
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Urinary retention, Thyrotoxicosis with diffuse g... ORPHA:79102
Alveolar Echinococcosis
Abnormal adrenal morphology, Liver abscess, Anemia, Increased circulating antibody level, Jaundic... ORPHA:284
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Oroticaciduria, Pancreatitis, Failure to thrive, Thromboc... OMIM:222700
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Delayed puberty, Abnormal circulating interferon-gamma concentration... ORPHA:391487
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinos... OMIM:204690
Coccidioidomycosis
Abnormality of the female genitalia, Abnormality of the kidney, Mediastinal lymphadenopathy, Lymp... ORPHA:228123
Toxic Epidermal Necrolysis
Polydipsia, Gastrointestinal hemorrhage, Anemia, Neutropenia, Pancreatitis, Abnormal vagina morph... ORPHA:537
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Decreased circulating I... ORPHA:505248
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Abnormal bleeding, Purpura, Hematuria, Gastrointestinal hemorrhage, Melena... ORPHA:853
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Hepatitis,... OMIM:615846
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... ORPHA:494444
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Gingival bleeding, Prolonged ... ORPHA:35909
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ... OMIM:613812
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Decreased circulating antibody leve... OMIM:222470
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Apla... OMIM:618280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, ... ORPHA:71212
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Zika Virus Disease
Increased circulating IgM level, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Bone marro... OMIM:613990
Tufted Angioma
Purpura, Anemia, Petechiae, Hyperhidrosis, Thrombocytopenia ORPHA:1063
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Anuria, Leukocytosis, Dysfunctional alternative complement pat... ORPHA:90038
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid... OMIM:256300
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co... OMIM:610717
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Glycosuria, Elevated circulating follicle stimulating h... OMIM:617253
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Hypoglycemia, Thrombocytopenia, Aggressive behavior OMIM:617710
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Epistaxis, Hypersplenism OMIM:230800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive... ORPHA:79319
Deeah Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hepatomegaly, Anter... OMIM:619004
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Complete or near-complete ab... OMIM:233600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Ery... OMIM:617021
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Abnormality of the hepatic vasculat... ORPHA:247691
Gaucher Disease Type 3
Delayed puberty, Hepatomegaly, Anemia, Increased circulating antibody level, Hematuria, Pancytope... ORPHA:77261
Wolcott-Rallison Syndrome
Jaundice, Neutropenia, Iron deficiency anemia, Hepatomegaly, Lymphocytosis, Decreased body weight... ORPHA:1667
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Overlap Myositis
Abnormality of the kidney, Abnormality of connective tissue, Thrombocytopenia, Leukopenia, Dyspha... ORPHA:206572
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Dicarboxylic aciduria, Thrombocytopenia OMIM:611126
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Type II diab... OMIM:615812
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Jaundice, Anemia, Pancytopenia, Hemosiderinuria, Abnormal erythrocyte enzyme... ORPHA:447
Osteogenesis Imperfecta, Type Xvi
Small for gestational age, Bruising susceptibility, Prolonged bleeding time OMIM:616229
Congenital Syphilis
Purpura, Anemia, Lymphadenopathy, Pancreatitis, Petechiae, Nephrotic syndrome, Prolonged neonatal... ORPHA:499009
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure ... OMIM:260400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Polyphagia, Decreased testicular size, Restlessness, Cryptorchidism,... ORPHA:251028
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ... ORPHA:79126
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Persistent bleeding after trauma, Normocytic anemia, Gastrointestinal... ORPHA:99147
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Anhidrosis, Thrombocytopenia, Splenomegal... ORPHA:169090
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hypospadias, Unilateral renal agenesis, Inguinal hernia, Hyperac... ORPHA:96121
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Holocarboxylase Synthetase Deficiency
Organic aciduria, Thrombocytopenia, Weight loss, Anorexia ORPHA:79242
Cole Disease
Hyperglycemia OMIM:615522
Thrombocytopenia 10
Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M... OMIM:620484
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, H... ORPHA:31150
Systemic Lupus Erythematosus
Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, Lupus nephritis OMIM:152700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ... OMIM:618282
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... OMIM:232220
Tempi Syndrome
Abnormality of the kidney, Increased circulating IgG level, Polycythemia, Intracranial hemorrhage... ORPHA:284227
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Anemia, Petechiae, Decreased body weight, Thrombocytopenia, Hepatosplenome... OMIM:608013
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Retrograde ejaculation, Elevated urinary dopamine level, Increased bloo... ORPHA:230
Hardikar Syndrome
Hematemesis, Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenom... OMIM:301068
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell... ORPHA:167
Oligomeganephronia
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Unilateral r... ORPHA:2260
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Hypospadias, Hemolytic-uremic syndrome, Camptodactyly, Hydronephrosis, T... OMIM:611209
Gaucher Disease
Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelith... ORPHA:355
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Neonatal death, Hydron... OMIM:601186
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Flexion contracture, Dysphagia, Oliguria, Renal insufficiency, Xerostomia ORPHA:220393
Icf Syndrome
Anemia, Decreased circulating antibody level, Lymphopenia, Umbilical hernia, Abnormality of neutr... ORPHA:2268
Digeorge Syndrome
Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu... OMIM:188400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Pancytopenia, Cystathioninuria, Homocystinuria, Megaloblastic anemia, Failu... OMIM:277380
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Failure to thrive, Flexion contracture, Absent gallbladder, ... OMIM:617140
Noonan Syndrome 4
Large for gestational age, Abnormal bleeding, Ureteral duplication, Hydronephrosis, Thrombocytope... OMIM:610733
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Mi... OMIM:156200
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Abnormal granulocyte morphology, Micronodular cirrhosis, Abno... ORPHA:98907
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hepatomegaly, Anemia, Pancytopenia, Elevated urine ... OMIM:251100
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:259700
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Immunodeficiency 56
Cirrhosis, Cholangitis, Panhypogammaglobulinemia, Failure to thrive, Chronic hepatitis due to cry... OMIM:615207
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Adnp Syndrome
Abnormal temper tantrums, Urinary incontinence, Inguinal hernia, Oral-pharyngeal dysphagia, Recur... ORPHA:404448
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hype... ORPHA:91
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... ORPHA:542323
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Renal cyst... ORPHA:79303
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Increased urinary glycerol, Adreno... OMIM:307030
Dyskeratosis Congenita
Abnormality of neutrophils, Neoplasm of the pancreas, Anemia, Cirrhosis, Hepatomegaly, Abnormal t... ORPHA:1775
Congenital Enterovirus Infection
Abnormal bleeding, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Leukopenia,... ORPHA:292
Rasmussen Subacute Encephalitis
Hyperactivity, Decreased circulating total IgA, Attention deficit hyperactivity disorder ORPHA:1929
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Elbow flexion con... ORPHA:3132
Hoyeraal-Hreidarsson Syndrome
Anemia, Abnormal leukocyte morphology, Failure to thrive, Bone marrow hypocellularity, Thrombocyt... ORPHA:3322
Immunodeficiency 12
Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to... OMIM:615468
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, Hyperactivity... OMIM:251260
Aarskog-Scott Syndrome
Delayed puberty, Inguinal hernia, Bilateral cryptorchidism, Failure to thrive, Elevated circulati... OMIM:305400
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Alg8-Cdg
Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia, Small for gestational age, Abnormalit... ORPHA:79325
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi... OMIM:277400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Failure to thrive, Thrombocytopen... OMIM:617718
Immunodeficiency 58
Atrophic scars, Decreased circulating antibody level, Dysuria, Decreased specific antibody respon... OMIM:618131
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ... OMIM:618213
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Increased circulating myelocyte count, E... ORPHA:36234
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... OMIM:300367
Hellp Syndrome
Prolonged prothrombin time, Acute kidney injury, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Monosomy 13Q34
Prolonged prothrombin time, Obesity, Fetal pyelectasis, Epistaxis, Hematochezia, Metrorrhagia, In... ORPHA:96168
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Hepatomegaly, Anemia, Inguinal hernia, Bile duct proliferation, Micro... OMIM:619525
Microscopic Polyangiitis
Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Pancreatitis, Epistaxis, Peritonitis, Oli... ORPHA:727
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Wilson Disease
Portal fibrosis, Splenomegaly, Dysphagia, Hepatic steatosis, Chondrocalcinosis, Jaundice, Hepatoc... OMIM:277900
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Lymphocytosis, Thyroiditis, Hepatitis, Nephrotic syndrome, Weight loss, Eosinoph... ORPHA:139402
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Failure to thrive, Decrease... OMIM:242840
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Inguinal hernia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas ORPHA:935
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Lesch-Nyhan Syndrome
Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicul... OMIM:300322
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic ve... ORPHA:2330
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Inguinal hernia, Microvesicular hepatic steatosis, Failure to thrive, Hyperglycemia,... OMIM:220111
Down Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Leukemia, Abnormality of the lymphatic system, Polycyt... ORPHA:870
Idiopathic Hypereosinophilic Syndrome
Anemia, Generalized lymphadenopathy, Portal fibrosis, Cholangitis, Pancreatitis, Myeloproliferati... ORPHA:3260
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Renal agenesis, Thrombocytopenia, Hypogonadism, ... OMIM:300514
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Anemia, Pancytopenia, Renal tubular acidosis, Nephrolithiasis, Bone marrow hypocell... ORPHA:2785
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enlarged kidney, Bruxism, Recurrent urinar... OMIM:615873
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Dysphagia OMIM:230900
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Vesicoureteral reflux, Hypoth... ORPHA:444077
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f... OMIM:232200
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor... OMIM:300291
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Inguinal hernia, Vacuolated lymphocytes, Decreased circulating antibody level, Sple... OMIM:248500
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Tongue thrusting, Hyperactivity, Hypoplastic nipples, Camptodactyly, Failure to thrive in... ORPHA:261323
Weaver Syndrome
Joint contracture of the hand, Inguinal hernia, Polyphagia, Camptodactyly, Umbilical hernia, Cryp... OMIM:277590
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Portal hypertension, Failure to thrive, Hepa... ORPHA:367
Sialuria
Prolonged prothrombin time, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Attention deficit h... ORPHA:3166
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Anemia, Aplasia of the uterus, Decreased circulating ant... OMIM:274000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormality of the kidney, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle ... ORPHA:464321
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopen... ORPHA:508542
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Increased c... ORPHA:449427
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Unilateral renal agenesis, Inguinal hernia, Pancytopenia, Vesicoureteral reflux, Umbilica... OMIM:620654
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Abnormal renal corticomedullary differentiation, Thrombocytopenia, Cereb... OMIM:617397
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... OMIM:188000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:254900
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Oliguria ORPHA:159
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased body weight, Decreased hemoglobin concentration, Thrombocytopenia, Motor ... OMIM:619005
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Renal tubular acidosis, Vesicoureteral reflux, Renal artery sten... OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Anorexia, Hematuria, Lymphadenopathy, Lupus ne... ORPHA:536
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Congenital Disorder Of Glycosylation, Type Iib
Hypoplastic female external genitalia, Decreased circulating antibody level, Decreased circulatin... OMIM:606056
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ... OMIM:256500
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Testicular atrophy, Omphalocele OMIM:601163
Fanconi Anemia
Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Hypogonadism, Umbilical hernia, ... ORPHA:84
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia OMIM:617425
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Splenomegaly, Multiple renal cysts, Umbilical hernia, Hypospadias, I... ORPHA:567
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Diabetes mellitus, Abnormal circulating... ORPHA:98908
Adams-Oliver Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Portal hypertension, Failure to thrive, Thrombocytopenia,... ORPHA:974
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... ORPHA:93126
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Hepatic fibrosis OMIM:224230
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi... ORPHA:189427
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splen... OMIM:618641
Whim Syndrome
Neutropenia, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil ... ORPHA:51636
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Braddock-Carey Syndrome 1
Camptodactyly, Enamel hypoplasia, Thrombocytopenia, Multicystic kidney dysplasia OMIM:619980
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomega... OMIM:263700
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Failure to thrive, Thro... ORPHA:333
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cholestasis, Thrombocytop... OMIM:619573
Netherton Syndrome
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Hydronephr... ORPHA:634
Kikuchi-Fujimoto Disease
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, E... ORPHA:50918
Avian Influenza
Acute kidney injury, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis ORPHA:454836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Myoglo... ORPHA:228308
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
Acute Liver Failure
Prolonged prothrombin time, Acute kidney injury, Gastrointestinal hemorrhage, Jaundice, Abnormal ... ORPHA:90062
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperlipidemia, Precocious puberty, Hypothyroidism, Cryptorchidism, Hepatic steatosis ORPHA:254346
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Megaloblastic anemia, Failure to thrive, Thr... ORPHA:79282
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil... ORPHA:186
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Decreased response to growth ... ORPHA:3464
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Hypoglycemia, Jaundice OMIM:616483
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... OMIM:614946
Liver Disease, Severe Congenital
Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Umbilical hernia, Hepatic steatosis... OMIM:619991
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Cirrhosis, Jaundice, Failure to thrive, Hypoglycemia OMIM:617049
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Diabetes mellitus, Cryptorchidism ORPHA:536532
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, In... ORPHA:562639
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time, 3-Methylglutaconic aciduria, Macrovesicular hepatic steatosis, Bile d... OMIM:618329
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Anorexia, Increased circulating IgG level, Leukocyto... ORPHA:297
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Inguinal hernia, Camptodactyly, Increased mean platelet v... OMIM:616737
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Failure to thri... ORPHA:46059
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Monosomy 18Q
Bilateral cryptorchidism, Hypothyroidism, Secondary growth hormone deficiency, Failure to thrive,... ORPHA:1600
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Absence of subcutaneous fat, Flexion contracture, Hypogonadism, ... OMIM:601675
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, En... ORPHA:797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Abnormal temper tantrums, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Cac... ORPHA:2072
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas, Hypoglycemia, Failure to thrive ORPHA:95428
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Attenti... OMIM:620185
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomega... OMIM:259720
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Hypospadias, Ectopic kidney, Inguinal hernia, Abnormal renal mor... OMIM:122470
Jacobsen Syndrome
Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Failure to thrive, Thrombo... OMIM:147791
Mohr-Tranebjaerg Syndrome
Attention deficit hyperactivity disorder, Agammaglobulinemia, Dysphagia ORPHA:52368
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Decreased circulating antibody level, Camptodactyly of finger, L... ORPHA:2136
Congenital Erythropoietic Porphyria
Scarring, Abnormal bleeding, Increased urinary porphobilinogen, Scarring alopecia of scalp, Purpl... ORPHA:79277
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Decreased circulating antibody level, Recurrent hand flapping, Frequent temper t... OMIM:617062
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Proximal tubulopathy, Organic aciduria, Medullary nephroc... OMIM:619743
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Abnormality of the anterior pit... ORPHA:449563
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Increased he... OMIM:614921
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Hypercholesterolemia, Abnormal intrahepatic bile... ORPHA:363618
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia OMIM:605432
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Increased circulating antibody level, Normochromic anemia, Dec... ORPHA:91500
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Inguinal hernia, Hyperactivity, Decreased circulating IgG level, Ac... OMIM:223370
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Phimosis, Decreased testicu... OMIM:305000
Leukocyte Adhesion Deficiency Type Ii
Scarring, Hepatomegaly, Anemia, Small for gestational age, Recurrent urinary tract infections, Le... ORPHA:99843
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Vici Syndrome
Decreased circulating IgG level, Ureteral atresia, Decreased circulating IgG2 level, Renal tubula... ORPHA:1493
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia, Dysphagia, Aggressive behavior ORPHA:572798
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Umbilical hernia OMIM:620475
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, Dysphagia ORPHA:261250
Acute Radiation Syndrome
Abnormal bleeding, Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Catastrophic Antiphospholipid Syndrome
Abnormal circulating cytokine concentration, Abnormality of the kidney, Thrombocytopenia, Coombs-... ORPHA:464343
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Cholera
Acute kidney injury, Hypoglycemia, Abnormality of renal excretion, Decreased urine output ORPHA:173
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Omphal... ORPHA:436252
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chro... OMIM:232240
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Prolong... OMIM:214950
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Blue Rubber Bleb Nevus
Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding OMIM:112200
Neuroleptic Malignant Syndrome
Acute kidney injury, Agitation, Urinary incontinence, Myoglobinuria, Leukocytosis, Hyperhidrosis,... ORPHA:94093
Dubowitz Syndrome
Abnormal female external genitalia morphology, Anemia, Hypospadias, Hypoparathyroidism, Cryptorch... ORPHA:235
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Portal fibrosis, Cholestasis, Failure to thrive, Hepatic steatosis OMIM:614300
Jacobsen Syndrome
Annular pancreas, Inguinal hernia, Bone marrow hypocellularity, Hydronephrosis, Thrombocytopenia,... ORPHA:2308
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Enamel hypoplasia, Nephrocalcinosis, Decreased re... OMIM:211900
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th... OMIM:617666
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Oliguri... ORPHA:99845
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopat... OMIM:181000
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Decreased circulating antibody level, Mucopolysacchariduria, Failure to thr... ORPHA:175
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,... OMIM:157640
Noonan Syndrome 9
Prolonged prothrombin time, Cryptorchidism, Hydroureter OMIM:616559
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Cervical insufficiency, Atrophic scars, Incisional hernia, Cigarette-paper scars... ORPHA:287
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Neonatal hypoglycemia, Failure to thrive, Small for gestational age, ... OMIM:619055
Japanese Encephalitis
Anorexia, Increased circulating antibody level, Elbow flexion contracture, Inappropriate antidiur... ORPHA:79139
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Thrombocytopenia, Flexion contracture, Splenomegaly, Micronodular cirrhosis, Limb j... OMIM:301072
Leukocyte Adhesion Deficiency
Perianal abscess, Abnormal bleeding, Vaginitis, Hyperinsulinemic hypoglycemia, Acute myeloid leuk... ORPHA:2968
Aicardi-Goutières Syndrome
Lipoatrophy, Panniculitis, Multiple joint contractures, Chronic lymphatic leukemia, Increased cir... ORPHA:51
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, D... OMIM:619534
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Trichothiodystrophy
Gonadal dysgenesis, Anemia, Multiple joint contractures, Panhypogammaglobulinemia, Increased mean... ORPHA:33364
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Inguinal hernia, Accessory spleen, Morgagni diaphragmatic hernia, A... OMIM:613177
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Anemia, Atrophic scars, Decreased circulating antibody level, Enamel hypoplasia, Failur... ORPHA:79396
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Hepatomegaly, Generalized aminoaciduria, Microvesicular hepatic steat... ORPHA:404454
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Omphalocele OMIM:617022
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Abnormal dental ena... ORPHA:861
Eec Syndrome
Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Hypospadias, Ant... ORPHA:1896
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Ectopic kidney, Abnormal external genitalia, Polyphagia, Camptodactyly, Congenital h... OMIM:607872
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidn... ORPHA:3320
Ogden Syndrome
Enlarged kidney, Jaundice, Maternal diabetes, Iron deficiency anemia, Inguinal hernia, Macrovesic... OMIM:300855
Monosomy 22
Hypochromic microcytic anemia, Hyperhidrosis, Hepatosplenomegaly, Aplasia of the thymus, Contract... ORPHA:96123
Holocarboxylase Synthetase Deficiency
Organic aciduria, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, T... OMIM:253270
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hydronephrosis, Thrombocytopenia, Intracranial hemorrhage, Absent gallbladde... ORPHA:163979
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Abnormality of the endocrine system, Inguinal hernia, Abn... ORPHA:487796
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 3rd finger, T... OMIM:612394
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Melena, Petechia... OMIM:306900
Leptospirosis
Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Cellu... ORPHA:509
Ethylene Glycol Poisoning
Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Addictive alcohol use, Rena... ORPHA:31826
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Thrombocytopenia, Motor stereotypy ORPHA:457351
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomerulosc... OMIM:619127
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Attention deficit hyperactivity disorde... OMIM:620330
Thrombocytopenia 3
Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis OMIM:273900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Jaundice, Hepatomegaly, Portal hypertension, Polycythemia, Copper acc... ORPHA:309854
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Intestinal bleeding OMIM:612199
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Prolonged prothrombin time, Hepatocellular carcinoma, Failure to thrive ORPHA:88618
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hypospadias, Increas... ORPHA:3455
Distal Deletion 19P
Keloids, Decreased circulating antibody level, Vaginal hernia, Umbilical hernia ORPHA:96129
Abetalipoproteinemia
Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Anemia, Abnormal bleeding, Reticulocytosis, ... ORPHA:14
Diamond-Blackfan Anemia 21
Thrombocytopenia, Anemia, Erythroid hypoplasia, Obesity OMIM:620072
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of ... OMIM:264090
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Ivic Syndrome
Thrombocytopenia, Leukocytosis, Rectovaginal fistula ORPHA:2307
Colchicine Poisoning
Oliguria, Renal insufficiency, Leukocytosis ORPHA:31824
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Pollakisuria, Thrombocytopenia, Attention ... ORPHA:647
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine... ORPHA:565612
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Ivic Syndrome
Thrombocytopenia, Leukocytosis, Rectovaginal fistula OMIM:147750
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system OMIM:267430
Roberts Syndrome
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Wrist flexion contracture, Thrombo... ORPHA:3103
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis OMIM:619351
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Male infertility, Abnormal bleeding, Hypospadias, Amegakaryocyt... OMIM:163950
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Congenital hypothyroidism, Neutropenia OMIM:271510
Pmm2-Cdg
Multiple renal cysts, Impaired neutrophil chemotaxis, Hyperinsulinemia, Failure to thrive, Lipody... ORPHA:79318
Osteogenesis Imperfecta
Inguinal hernia, Hypercalciuria, Abnormal dental enamel morphology, Nephrolithiasis, Hyperhidrosi... ORPHA:666
Mowat-Wilson Syndrome
Urinary incontinence, Bifid scrotum, Dysphagia, Septate vagina, Bruxism, Abnormality of the kidne... ORPHA:2152
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Abnormal bleeding, Anhidrosis, Thrombocytopenia, Oliguria ORPHA:466650
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Bifid scrotum, Dysphagia, Septate vagina, Bruxism, Hypospadias, Pelvic kidn... ORPHA:261537
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Breast aplasia ORPHA:90153
Fibular Hemimelia
Renal dysplasia, Thrombocytopenia ORPHA:93323
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Hyperlipidemia ORPHA:90154
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy ORPHA:3063
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Bifid scrotum, Hyphema, Dysphagia, Duplication of renal pelvis, Septate vag... ORPHA:261552
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Tooth abscess, Hyperphosphaturia, Enthesitis, Abnormality of renal excre... ORPHA:289176
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Sponastrime Dysplasia
Hypospadias, Decreased circulating antibody level, Hypothyroidism, Precocious puberty, Small for ... ORPHA:93357
Viss Syndrome
Epidural hemorrhage, Inguinal hernia, Increased circulating IgG level, Increased circulating IgE ... OMIM:619472
Fabry Disease
Abnormal circulating lipid concentration, Delayed puberty, Hematuria, Anemia, Diabetes insipidus,... ORPHA:324
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Secretory IgA deficiency, Decreased circulating IgG level, Dysphagia, ... ORPHA:500150
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Failure to thrive, Oroticaciduria OMIM:311250
Nk-Cell Enteropathy
Hematochezia, Increased T cell count ORPHA:263665
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis, Hepatic steatosis... ORPHA:391665

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.

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hypoplasia Pttg1tm1b(EUCOMM)Wtsi HOM Early adult
Femur - MPATH pathological process term hypoplasia Pttg1tm1b(EUCOMM)Wtsi HOM Early adult
Femur - MPATH pathological entity term osteopenia Pttg1tm1b(EUCOMM)Wtsi HOM Early adult
Uterus - MPATH pathological process term hypoplasia Pttg1tm1b(EUCOMM)Wtsi HOM Early adult

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 Pttg1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Pttg1tm1b(EUCOMM)Wtsi PMC8163790

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pttg1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Pttg1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pttg1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pttg1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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