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Gene: Tyk2 MGI:1929470

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Gene Summary

Name:
tyrosine kinase 2
Synonyms:
JTK1

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
abnormal seminal vesicle morphology Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 0.00
abnormal ovary morphology Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 0.00
decreased plasmacytoid dendritic cell number Tyk2tm2b(EUCOMM)Hmgu HOM   Late adult 2.53×10-05
thrombocytopenia Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 5.64×10-05
enlarged thymus Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 0.00
long tibia Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 5.58×10-06
abnormal pancreas morphology Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 0.00
enlarged spleen Tyk2tm2b(EUCOMM)Hmgu HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Tyk2 mutations

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

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

The table below shows human diseases associated to Tyk2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... OMIM:611521

The table below shows human diseases predicted to be associated to Tyk2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Recurren... OMIM:235900
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Recurrent infection of the gastrointestinal tract... OMIM:137100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent viral infections, Rec... OMIM:308220
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG, Recurrent bacterial inf... OMIM:613495
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections OMIM:146830
Immunodeficiency 18
Recurrent otitis media, Defective T cell proliferation, Recurrent gastroenteritis, Recurrent resp... OMIM:615615
Immunodeficiency 24
Recurrent viral infections, Decreased circulating IgG2 level, Partial absence of specific antibod... OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Truncal obesity, Nonketotic hy... ORPHA:293964
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:608106
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Reduced isohemagglutinin level... OMIM:613493
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Chil... ORPHA:71529
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... OMIM:300310
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Atopic dermatitis, Increased circulating interleukin 6 concentra... OMIM:618944
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Recurrent bacteria... OMIM:613500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Recurrent bacterial infections, Decreased circulating IgA... OMIM:606843
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Clinod... ORPHA:71289
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... OMIM:614699
Immunodeficiency 62
Decreased circulating total IgM, Reduced isohemagglutinin level, Autoimmune thrombocytopenia, Rec... OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent bacterial infections, Decreased cir... OMIM:613502
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Eczema, Decreased circulati... OMIM:300988
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, Post-vaccination polio, Recurrent infections OMIM:616941
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... OMIM:611521
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Persistent CMV viremia, Autoimmune thromboc... OMIM:619220
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... OMIM:619707
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent bacterial infections, Decreased cir... OMIM:612692
Immunodeficiency 86
BCGitis, Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia, Obesity OMIM:608320
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... OMIM:607271
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... ORPHA:171706
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:300636
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Recurrent viral infections, Hashimoto thyroiditis, Recurrent aphthous stomatitis, S... ORPHA:275
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Cryptorchidism, Short thumb, Joint contracture of the 5th fing... OMIM:194350
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Skin rash, Recurrent bacterial meningitis, Decreased circulating... OMIM:300400
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age, Hyperinsulinemic hypo... OMIM:601820
Immunodeficiency, Common Variable, 2
Autoimmunity, Meningitis, Recurrent bacterial infections, Decreased circulating IgA level, Impair... OMIM:240500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Complete or near-comple... ORPHA:70593
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia... ORPHA:2457
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 11
Recurrent respiratory infections, Reduced antigen-specific T cell proliferation, Agammaglobulinem... OMIM:615206
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Small for gestational age, Excess... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum,... OMIM:615214
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Molluscum contagiosum, Increased circulating IgE level, Herpes simplex encephalitis, Increased ci... OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Chronic act... OMIM:300853
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia,... ORPHA:280356
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Neonatal hypoglycemia, Truncal obesity, Hypoinsulinemia, Large for gestatio... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Rheumatoid factor positive, Increased circulating IgE level, Red... OMIM:619632
Complement Component C1R/C1S Deficiency
Autoimmunity, Arthritis, Discoid lupus rash, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Anemia, Abnormal pelvic girdle bone morphology, Diaphyseal thicke... ORPHA:1802
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Recurrent ... OMIM:607594
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... ORPHA:79299
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Recurrent lower respiratory tract infections, Re... OMIM:615139
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Decreased circulating total IgM, Atopic dermatitis, Severe cy... OMIM:617638
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity, Insulin resistance ORPHA:140941
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia, Obesity ORPHA:329249
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Short middle phalanx of the 4th finger, Overlapping fingers, Anemia, Congenital thrombocytopenia,... OMIM:616738
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Anti-t... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Immunodeficiency 15B
Agammaglobulinemia, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to m... OMIM:615592
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Autoimmunity, Abnormality of humoral immunity, Increased ci... ORPHA:277
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Thrombocytopenia... OMIM:615285
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased se... OMIM:617885
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Pa... OMIM:601457
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bacterial infections, Recurrent lower respiratory tract ... OMIM:613501
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Large for gestational age, Excessive insulin response to glucagon test, Inc... ORPHA:276575
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Colitis, Recurrent infections OMIM:616098
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hyp... OMIM:604367
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Large for gestational age, Excessive insulin response to... ORPHA:276580
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Panhypogammaglobulinemia, Pneumonia, Rec... OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Recurrent abscess formation, Failure to thrive secondary to... ORPHA:169160
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Frequent Giardia lamblia infestation, Recurrent oral herpes, Dec... OMIM:615577
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Polyarticular arthritis, Co... OMIM:619281
Immunodeficiency 96
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Decreased circulat... OMIM:619774
Obesity Due To Sim1 Deficiency
Glucose intolerance, Increased resting energy expenditure, Hyperinsulinemia, Obesity ORPHA:369873
Growth Hormone Insensitivity Syndrome
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Truncal obesity, Failure to thrive, Type II ... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Mildly elevated creatine kinase, Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acet... ORPHA:71212
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Sepsis, Autoimmune hemolytic anemia... OMIM:616100
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmunity, Decreased circulating beta-2-microglobulin level, Recurrent herpes, Recurrent funga... ORPHA:572
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Immunodeficiency 66
Meningitis, Sepsis, Recurrent skin infections, Defective T cell proliferation, Pustule OMIM:618847
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Aut... OMIM:618495
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Increased circulating antibody level OMIM:247800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level OMIM:233650
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Chronic si... OMIM:301082
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased circulating IgG2 ... OMIM:615513
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the ovary, Abnormal lymph node morphology, Abnormality o... ORPHA:543
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Increased body weight, Pancreatic islet-cell hyperplasia, Reactive hypoglyc... ORPHA:276608
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased serum cr... OMIM:617744
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgA, Decreased circulating ... OMIM:618969
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Disseminated molluscum contagiosum, Atopic dermatitis, Recurr... OMIM:243700
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Bronchiectasis, Recurrent upper ... OMIM:193670
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections OMIM:614493
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Dk Phocomelia Syndrome
Thrombocytopenia, Phocomelia OMIM:223340
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Recurrent urinary tract infections, Recurrent viral infections, Cutaneous anergy, Co... OMIM:209920
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Selective Igm Deficiency
Chronic sinusitis, Autoimmunity, Recurrent shingles, Decreased specific antibody response to vacc... ORPHA:331235
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Immunodeficiency 46
Recurrent sinopulmonary infections, Meningitis, Sepsis, Chronic oral candidiasis, Decreased circu... OMIM:616740
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... OMIM:620211
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Decreased activity of mitochondrial complex IV, Obesity OMIM:619058
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Autoimmunity, Recurrent shingles, Recurrent lower respiratory tract infections... ORPHA:183675
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Decreased ... OMIM:601859
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent infections, Autoimmune hemolytic anemia, Atrophic g... OMIM:616576
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Adducted thumb, Megaloblastic anemia OMIM:601815
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Obesity, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyce... ORPHA:66628
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Erlenmeyer flask deformity of the femurs, Hypersplenism, Thrombocytopenia, ... OMIM:610539
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, Atopic dermatitis, Recurrent infections, Increased circulating ... OMIM:618282
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance, Obesity OMIM:614662
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Incre... ORPHA:276556
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Obesity, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyce... ORPHA:179494
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Elevated circulating growth hormone concentration, Multiple pancreatic bet... ORPHA:79644
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... OMIM:147630
Mody
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Overweight, Glycosuria, Abnorm... ORPHA:552
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Recurrent lower respiratory tract infections, Chronic oral candidiasis, Increa... OMIM:308230
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Perinuclear antineutrophil antibody positivity, Decreased cir... OMIM:618394
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Recurrent viral infections, Anti-beta-2-Glycoprotein I IgG antib... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... OMIM:608184
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Thrombocytopenia, Abnormal thumb morphology, Neutropenia OMIM:614082
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hyperammonemia, Overweight, Elevated circulating crea... ORPHA:26793
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Obesity ORPHA:791
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased circulating total IgM, Ulcerative colitis, Decrease... OMIM:614878
Immunodeficiency 52
Persistent CMV viremia, Autoimmune thrombocytopenia, Persistent EBV viremia, Recurrent pneumonia,... OMIM:617514
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Niemann-Pick Disease, Type B
Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced bone mineral densit... OMIM:620210
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Flexion contracture, Patellar hypoplasia, Transient hypogammaglobulinemia of infancy, Recurrent i... OMIM:251240
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lipodystrophy, Diabetes mellitus, Elevated circulating ... OMIM:615980
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Blood group antigen abnormality, Ambiguous geni... ORPHA:199310
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Absent isohemagglutinin level, Autoimmunity, Recurrent infect... OMIM:615559
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Congenital Generalized Lipodystrophy
Lipodystrophy, Proportionate tall stature, Adipose tissue loss, Diabetes mellitus, Precocious pub... ORPHA:528
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Inflammation of the large intestine, Colitis, Acne, Hepatitis, ... OMIM:300635
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Inflammation of the large intestine, Increased circulating IgE ... OMIM:615767
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Skin rash, Recurrent bacterial skin infections, Sepsis, Recurrent ... ORPHA:276
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Keloids, Obesity ORPHA:3085
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Decreased circulating total IgM, Oligoarthritis, Decreased circ... OMIM:619510
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Cryptorchidism, Hypochromic anemia, Anemia of inadequate pro... ORPHA:67044
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Autoimmunity, Recurrent viral infections, Skin rash, Recurrent e... ORPHA:331206
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hyperinsulinemi... OMIM:151660
Amed Syndrome, Digenic
Leukopenia, Anemia, Long thumb, Bone marrow hypocellularity, Hypoplasia of the uterus, Thrombocyt... OMIM:619151
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Narcolepsy Type 1
Obesity ORPHA:2073
Fanconi Anemia, Complementation Group T
Short thumb, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Duplication of ... OMIM:616435
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hy... OMIM:616033
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Myeloma, Multiple
Paraproteinemia OMIM:254500
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hypothyroidism, Umbilical hernia, Failure to thrive... ORPHA:99886
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Decreased testicular size, Male hypogonadism, Ambiguous genitalia ORPHA:393
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... OMIM:619326
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Decreased ci... OMIM:619752
Immunodeficiency 56
Cholangitis, Recurrent respiratory infections, Recurrent infections, Recurrent infection of the g... OMIM:615207
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Autoimmune thrombocytopenia, Decreased circulating antibody level, Absent specific antibody respo... OMIM:619846
Gonadoblastoma
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... ORPHA:206484
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Hyperalaninemia, Decreased activity of mitochondr... OMIM:618378
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Syndactyly, Anemia of inadequate production, Hep... OMIM:615631
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Agammaglobulinemia, X-Linked
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:300755
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... ORPHA:35878
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Autoimmunity, Severe infection, Chronic oral candidi... ORPHA:83471
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Immunodeficiency 43
Recurrent respiratory infections, Hypoproteinemia, Decreased circulating beta-2-microglobulin lev... OMIM:241600
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Autoimmunity, Recurrent bacterial infections, Recurrent lower respiratory... OMIM:616005
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Cirrhosis, Thrombocytopenia, Abnormality of the clitoris ORPHA:101028
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hypertriglyce... ORPHA:363400
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Polyarticular arthritis, Joint swelling, Abnormal circulating inter... ORPHA:85435
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Insulinoma
Pituitary prolactin cell adenoma, Increased body weight, Recurrent hypoglycemia, Fasting hyperins... ORPHA:97279
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Temple Syndrome
Small for gestational age, Overweight, Obesity, Truncal obesity, Hypertriglyceridemia, Maturity-o... OMIM:616222
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Thrombocytopenia, Abnormal vagina morphology, Ascites ORPHA:2123
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 92
Cholangitis, Persistent CMV viremia, BCGosis, Recurrent oral herpes, Partial absence of specific ... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Neonatal sepsis, Recurrent viral infections, Increased circulati... ORPHA:169154
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Immunodeficiency 105
Decreased circulating total IgM, Skin rash, Decreased circulating IgA level, Decreased circulatin... OMIM:619924
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Beta-Thalassemia
Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Hypogo... ORPHA:848
Neonatal Severe Primary Hyperparathyroidism
Abnormal metaphysis morphology, Hepatomegaly, Splenomegaly ORPHA:417
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Recurrent bacterial infections OMIM:616873
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Galactokinase Deficiency
Small for gestational age, Hypergalactosemia, Increased level of galactitol in plasma, Hyperinsul... ORPHA:79237
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... ORPHA:2298
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the humerus, Abnormal metaphysis morphology, Genu varum, ... ORPHA:3130
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Small for gestational age, Postprandial hyperglycemia, Hyperinsulinemia, Hy... OMIM:262190
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Fever OMIM:619175
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Reticulocytosis, Splenomegaly OMIM:179700
Immunodeficiency 22
Decreased circulating total IgM, Autoimmunity, Recurrent lower respiratory tract infections, Decr... OMIM:615758
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Recurrent respiratory infections, Decreased circulating total IgM, Recurrent ... ORPHA:35078
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Increas... OMIM:613179
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Optic neuritis, Complete or near-complete absence of specific an... OMIM:301081
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia, Metaphyseal dysplasia, Diaphyseal dysplasia, Epiphyseal dysplasia OMIM:614727
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia, Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Diaphyseal dysplasia OMIM:231095
Babesiosis
Jaundice, Clinodactyly of the 5th toe, Leukopenia, Hemolytic anemia, Hepatomegaly, Thrombocytopen... ORPHA:108
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... OMIM:150550
Perlman Syndrome
Femoral hernia, Inguinal hernia, Tall stature, Hyperinsulinemia ORPHA:2849
Stt3B-Cdg
Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis ORPHA:370924
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
D-Glyceric Aciduria
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinemia ORPHA:941
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... OMIM:618108
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:610333
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Prostate cancer, Acute ly... ORPHA:158057
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Broad femoral metaphyse... ORPHA:2502
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Elevated creatine kinase after exercise, Decreased mi... ORPHA:352470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Hip dislocation, Aplastic anemia, Congenital thrombocytopenia, A... OMIM:605432
Non Rare In Europe: Central Precocious Puberty
Obesity, Isosexual precocious puberty, Overgrowth, Increased circulating gonadotropin level, Incr... ORPHA:759
Papa Syndrome
Increased inflammatory response, Increased circulating antibody level, Pustule, Arthritis, Acne, ... ORPHA:69126
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Meningitis, Fulminant hepatitis, Reduced natural killer cell ac... OMIM:308240
Stuve-Wiedemann Syndrome 2
Camptodactyly, Thrombocytopenia, Short long bone, Bowing of the long bones OMIM:619751
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent enteroviral infe... OMIM:307200
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis OMIM:615597
Immunodeficiency 76
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent bacterial infection... OMIM:601495
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Aplasia of the uterus, Coxa valga, Finger... ORPHA:3320
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Generalized lipodystrophy, Loss of truncal subcutan... OMIM:608612
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Failure to thrive OMIM:610768
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Meningitis, Skin rash, Sepsis, Arthritis,... ORPHA:33110
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Abnormality of the ovary, Deformed humerus, D... ORPHA:2975
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Decreased ... OMIM:603909
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Mesenteric cyst, A... ORPHA:314473
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia OMIM:613987
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent streptococcus pneumoniae infections, Glomerulonephr... OMIM:610984
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Immunodeficiency 27A
Rheumatoid factor positive, Increased circulating IgM level, Increased circulating IgG level, Pne... OMIM:209950
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Severe cytomegalovirus infection, Molluscum contagiosum, Recurre... OMIM:300291
Mehmo Syndrome
Delayed puberty, Small for gestational age, Decreased response to growth hormone stimulation test... OMIM:300148
Summitt Syndrome
Obesity OMIM:272350
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Lymphoproliferative Syndrome 2
Sepsis, Uveitis, Severe varicella zoster infection, Recurrent pneumonia, Persistent EBV viremia, ... OMIM:615122
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231000
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Hemochromatosis, Type 2B
Hypogonadism, Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Oligoarthritis, Autoim... ORPHA:85410
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, Erythema nodosum, Recurrent infecti... OMIM:614700
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis, Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Abnormality of B cell physiology, Meningitis, Cutaneous anergy, Recurrent lower respiratory tract... OMIM:600802
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Bowing of the long bones OMIM:211890
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating follic... OMIM:619755
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Thrombocytopenia, Radial deviation of finger OMIM:188025
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... OMIM:616689
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, An... ORPHA:3344
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites ORPHA:858
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Ivic Syndrome
Leukocytosis, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Thrombocytopenia, Radio... ORPHA:2307
Preeclampsia
Abnormality of the hepatic vasculature, Polycystic ovaries, Thrombocytopenia ORPHA:275555
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity, Hyperglycemia, Hyper... OMIM:615812
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia, Proximal pl... OMIM:618624
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Igg4-Related Aortitis
Cytoplasmic antineutrophil antibody positivity, Autoimmunity, Increased circulating IgG4 level, I... ORPHA:449400
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hyperuricemia, Diabetes mellitus, Abnormality of the endocrine ... ORPHA:77296
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Decreased circulating antibody level, Septic arthritis, Recurrent pneumonia, Hyperh... OMIM:617780
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Hypospadias, Sandal gap, Splenomegaly, Ascites ORPHA:1046
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Estrogen Resistance Syndrome
Overgrowth, Hyperinsulinemia, Tall stature, Glucose intolerance, Abnormality of the adrenal gland... ORPHA:785
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent viral infections, Decreased specific anti-polysacchar... OMIM:606367
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Hypogonadism, Failure to thrive ORPHA:261483
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Impaired glucose tolerance, Camptodactyly, Calcinosis, Hyperinsulinemia, Elbow fle... OMIM:248370
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... OMIM:615954
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Ivic Syndrome
Short 1st metacarpal, Leukocytosis, Absent thumb, Short thumb, Preaxial polydactyly, Short clavic... OMIM:147750
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Bone marrow hypoc... OMIM:618116
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Anemia, Lymphopenia, Long fibula, Abnormality of the pancreas ORPHA:935
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Azoospermia, ... OMIM:615234
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... OMIM:235700
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Hypogonadism, Obesity OMIM:614962
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Bronchiectasis, Crohn's disease... OMIM:619705
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Small for gestational age, Diabetes mellitus, Compensated hypothyroidism, Impaired sensit... OMIM:274300
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Abnormality of the hepatic vasculature, Bone marrow hypocellularity, Portal h... ORPHA:210136
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Recurrent respiratory infections, Cytoplasmic antineutrophil ant... OMIM:615934
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Intraalveolar phospholipi... OMIM:618042
Autoimmune Hepatitis
Acute hepatitis, Glomerulonephritis, Inflammation of the large intestine, Increased circulating a... ORPHA:2137
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:616860
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Pyoderma Gangrenosum
Inflammation of the large intestine, Increased circulating antibody level, Pustule, Rheumatoid ar... ORPHA:48104
Malaria
Thrombocytopenia, Anemia ORPHA:673
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Short 4th metacar... OMIM:169400
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Bardet-Biedl Syndrome 22
Large for gestational age, Hypogonadism, Obesity OMIM:617119
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Polyarticular arthritis, Uveitis, Keratoconjunctivitis sicca, Au... OMIM:617388
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Clinodactyly of the 5th toe, Anemia, Abnormality of neutro... ORPHA:229717
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Obesity, Truncal obesity, Maturity-onset diabetes of the young, Hyperc... ORPHA:96184
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... OMIM:300835
Temple Syndrome
Small for gestational age, Obesity, Recurrent hypoglycemia, Decreased response to growth hormone ... ORPHA:254516
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Slender long bone, Thrombocytopenia, Hydrocele testis, Congenital adrenal h... ORPHA:96181
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Congenital Rubella Syndrome
Jaundice, Abnormal metaphysis morphology, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:603233
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Normocytic anemia, Genu varum, Metaphyseal widening, Hepatomeg... OMIM:617941
Splenoportal Vascular Anomalies