Gene Summary

Name:
tyrosine kinase 2
Synonyms:
JTK1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... 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
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Increased alpha-globulin, Polyarticul... OMIM:235900
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Recurrent respiratory i... OMIM:613495
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... OMIM:137100
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level,... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:615615
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Chil... ORPHA:71529
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent upper respirator... OMIM:618944
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections, Recurrent infections, Recurrent ... OMIM:617744
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Decreased circulating IgG level, Recurrent bacterial infections OMIM:242870
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Immunodeficiency 50
Decreased circulating antibody level, Recurrent urinary tract infections, Recurrent respiratory i... OMIM:300988
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Reduced isohemagglutinin le... OMIM:614699
Agammaglobulinemia 8, Autosomal Dominant
Recurrent infections, Recurrent otitis media, Agammaglobulinemia OMIM:616941
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased circulating IgA level, Decreased... OMIM:616452
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections OMIM:606445
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia, Recurrent bac... OMIM:613502
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent gastroenteritis, Chronic oral candidiasi... ORPHA:275
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurrent candida infections OMIM:269840
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Disseminated nontuberculous myco... OMIM:300636
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Immunodeficiency 25
Recurrent herpes, Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE... OMIM:610163
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Autoim... OMIM:618495
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Severe Combined Immunodeficiency, X-Linked
Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating IgE, Pneu... OMIM:300400
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Azoospermia, Insulin resistance, Oligospermia, Hypertriglyceridemia, Type I... OMIM:615703
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neu... OMIM:607594
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Decreased specific anti-polysa... OMIM:300853
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Autoimmunity, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis OMIM:216950
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Anti-thyroid peroxidase antibody positivity, Increased circul... ORPHA:277
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Increased circulating IgM level, Anti-thyroglobulin ... OMIM:618534
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abnormal circulating lipid concentration, Abdominal obesity, E... OMIM:615980
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Immunodeficiency 37
Decreased circulating antibody level, Recurrent infections, Encephalitis, Colitis OMIM:616098
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Recurrent ot... OMIM:615577
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Sinusitis, Decreased circulating IgG level, Otitis media OMIM:312863
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Polyarticular arthritis, Recurrent sinusitis, Colitis, Decre... OMIM:619281
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Hypoglycemic seizures, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobul... ORPHA:572
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Decrea... OMIM:616100
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type ... ORPHA:181393
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent infections, Decreased circ... OMIM:614878
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Immunodeficiency 66
Pustule, Defective T cell proliferation, Meningitis, Sepsis, Recurrent skin infections OMIM:618847
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Wiskott-Aldrich Syndrome 2
Eczema, Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sino... OMIM:615513
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Platelet antibody positive, Autoimmune thrombocytopenia, Antineu... OMIM:601859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections, Pneumonia OMIM:614069
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Immunodeficiency 70
Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Colitis, Decreased circulati... OMIM:618969
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Decreased activity of mitochondrial complex IV, Obesity OMIM:619058
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Ulcerative colitis, Recurrent sinopulmonary infections... OMIM:618394
Immunodeficiency 46
Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary infection... OMIM:616740
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Patellar hypoplasia, Flexion contracture, Recurrent infections, Transient hypogammaglobulinemia o... OMIM:251240
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Recurrent respirat... OMIM:618042
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level, Recurrent viral infections, Recurrent bacteri... ORPHA:169079
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoim... OMIM:608184
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity OMIM:618160
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Persistent EBV viremia, Recurrent upper respiratory tract infections... OMIM:615559
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Small for gestational age, I... ORPHA:26793
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, H... ORPHA:528
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Decreased circulating IgG l... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, R... ORPHA:331206
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Folliculitis, Acne, Inflammation of the large intes... OMIM:300635
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Immunodeficiency 52
Persistent EBV viremia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating antibo... OMIM:617514
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Myeloma, Multiple
Paraproteinemia OMIM:254500
Narcolepsy Type 1
Obesity ORPHA:2073
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Hypoalbuminemia, Decreased circulating IgG level, Recurrent resp... OMIM:241600
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... ORPHA:90280
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Obesity OMIM:617885
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Eosinophilia, Obesity OMIM:248100
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increa... OMIM:151660
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Abnormal serum interleukin level, Synovitis, Reduced bone mineral density, Rheuma... ORPHA:85435
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Lichtenstein Syndrome
Osteoporosis, Increased susceptibility to fractures, Recurrent infections, Decreased circulating ... OMIM:246550
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Hyperbilirubinemia, Decreased response to growth hormo... OMIM:609734
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Skin rash, Recurrent infections OMIM:618048
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hypertriglyceridemia... ORPHA:363400
Halothane Hepatitis
Fever, Eosinophilia, Obesity OMIM:234350
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Skin rash, Pustule, Chronic oral candidiasis, Partial IgA def... ORPHA:35078
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Autoimmune thrombocytopenia, Recurrent upper respiratory tract i... ORPHA:169154
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Fever, Failure to thrive in infancy OMIM:619175
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Panhypogam... OMIM:307200
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Complete or near-complete absence of specific antibody response to t... OMIM:613496
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Recurrent bacterial infections OMIM:616873
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmune thrombocytopenia, Autoimmunity, Increased circulating antibody level, Recurrent infect... OMIM:614470
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Increased circulating guanosine concentration, Autoimmune thr... OMIM:613179
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Abnor... OMIM:613101
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Decreased circulating antibody level, Septic arthritis, Recurrent infections, Recur... OMIM:617780
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Reduced natural killer cell acti... OMIM:300291
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Recurrent urinary tract infections, Pyoderma, Pneumonia, Septic arthri... OMIM:300755
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Tall stature, Femoral hernia ORPHA:2849
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Recurrent bacterial infection... OMIM:616005
Lymphoproliferative Syndrome 2
EBV meningitis, Persistent EBV viremia, EBV encephalitis, Decreased circulating antibody level, U... OMIM:615122
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Rafiq Syndrome
Obesity OMIM:614202
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Elevated creatine kinase after exercise, Decreased mi... ORPHA:352470
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Increased circulating IgM level, Platelet antibody positive, Autoimmune thrombocytopen... OMIM:603909
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Meningitis, Conjunctivitis, Hepat... ORPHA:33110
Summitt Syndrome
Obesity OMIM:272350
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Severe Epstein Barr virus infection, Decreased circulating antib... OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneumonia, Auto... OMIM:614700
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Decreased serum complement factor B,... OMIM:610984
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypoga... OMIM:600802
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Abnormal serum interleukin level, Increased serum interferon-gamma level, Au... ORPHA:85410
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:606367
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Bone marrow hypocellularity, Recurrent respiratory infectio... OMIM:618116
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Redu... OMIM:612526
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Immunodeficiency 47
Decreased circulating antibody level, Recurrent bacterial infections OMIM:300972
Sting-Associated Vasculopathy, Infantile-Onset
Antinuclear antibody positivity, Skin rash, Pustule, Antiphospholipid antibody positivity, Increa... OMIM:615934
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity ORPHA:88643
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
Autoimmune Hepatitis
Increased total bilirubin, Inflammation of the large intestine, Acute hepatitis, Antineutrophil a... ORPHA:2137
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Failure to thrive OMIM:618378
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Recurrent fungal infections, Autoimmune thrombocytopenia, Autoim... OMIM:102700
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Increased circulating IgG ... OMIM:617388
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Type II diabetes... ORPHA:254516
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Truncal obesity, Inguinal hernia, Hip contracture, Obesity OMIM:618363
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Persistent EBV viremia, Autoimmune thrombocytopenia... OMIM:613011
Alopecia Antibody Deficiency
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:1006
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Obesity ORPHA:141333
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Recurre... OMIM:618131
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Interstitial pneumonitis, Recurrent upper respiratory tract infectio... OMIM:615952
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Malignant hyperthermia, Congenital hypothyroidism, Obesity ORPHA:352530
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity ORPHA:3191
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Immunodeficiency 23
Joint hypermobility, Increased circulating IgM level, Increased circulating IgE level, Allergic r... OMIM:615816
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... OMIM:203800
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Dorsocervi... OMIM:615830
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Increased circulating IgG level, Chronic sinusitis, Reduced an... ORPHA:443811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:602450
Cystic Fibrosis
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:586
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Decreased circulating IgA level OMIM:215250
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, F... OMIM:613327
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections OMIM:605309
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Autoimmunity, Chronic otitis media, Sinusitis, Meningitis, Conjunctiviti... ORPHA:47
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Autoimmunity, Decreased circulating antibody level, Recurrent skin... ORPHA:90363
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number ORPHA:457050
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Colitis, Recurrent infections, Eczema, De... OMIM:608809
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, U... OMIM:608594
Trisomy 5P
Obesity ORPHA:1742
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... OMIM:602668
Felty Syndrome
Osteolysis, Pericarditis, Autoimmunity, Chronic otitis media, Recurrent urinary tract infections,... ORPHA:47612
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:602579
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Retinitis Pigmentosa 71
Obesity OMIM:616394
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abnormal circulating ... ORPHA:1501
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, U... OMIM:269700
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
48,Xxyy Syndrome
Abnormal dental enamel morphology, Azoospermia, Hypergonadotropic hypogonadism, Tall stature, Ing... ORPHA:10
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypoglycemia OMIM:300438
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Nephronophthisis 15
Obesity OMIM:614845
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Decreased specific antibody response to va... ORPHA:221139
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Diabetes mellitus, Macronodular adrenal hyperplasia, Failure to thrive ORPHA:189427
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Short Stature-Obesity Syndrome
Obesity OMIM:269870
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Pyoderma, Recurrent bronchopulmonary infections, Recurrent... OMIM:242700
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98855
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypothyroidism, Hypertriglyceridemia, Decreased HDL cholestero... ORPHA:412
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:612462
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Clark-Baraitser Syndrome
Obesity OMIM:617752
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Flexion contracture, Panniculitis, Hypertriglyce... OMIM:617591
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Bronchiectasis, Pneumonia, Decreased circulating IgA level, Sinu... OMIM:242860
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Abnormal mitochondrial morphology OMIM:618528
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98853
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Wiskott-Aldrich Syndrome
Recurrent herpes, Recurrent pneumonia, Inflammation of the large intestine, Increased circulating... OMIM:301000
Prader-Willi Syndrome
Temperature instability, Hyperinsulinemia, Decreased response to growth hormone stimuation test, ... OMIM:176270
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number OMIM:619063
Barth Syndrome
Abnormal mitochondrial morphology, Failure to thrive OMIM:302060
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Autoimmune thrombocytopenia, Erythroderma, Severe infection, Glo... OMIM:304790
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Failure to thrive in infa... OMIM:615547
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:103580
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Chung-Jansen Syndrome
Obesity OMIM:617991
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Glucose intolerance, Obesity OMIM:615630
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Autoimmune Lymphoproliferative Syndrome
Abnormal serum interleukin level, Decreased specific anti-polysaccharide antibody level, Thyroidi... ORPHA:3261
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556037
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Severe varicella zoster infectio... OMIM:618213
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Weight loss, Failure to thrive, Abnormality of mitochondrial me... ORPHA:33355
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Angiostrongyliasis
Increased circulating IgM level, Unusual CNS infection, Increased circulating specific IgE antibo... ORPHA:74
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Decreased body weight, Truncal obesi... OMIM:270450
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Colitis OMIM:615190
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Baralle-Macken Syndrome
Obesity OMIM:619255
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Decreased circulating total IgA, Antinuclear antibody positivity,... ORPHA:1929
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Riddle Syndrome
Chronic sinusitis, Recurrent sinusitis, Elevated alpha-fetoprotein, Recurrent viral infections, P... ORPHA:420741
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Obesity ORPHA:166024
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Elevated circulating C-reactive protein concent... ORPHA:79099
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Bloom Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Malar rash, Decreased circulating I... OMIM:210900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Wagr Syndrome
Obesity ORPHA:893
Ataxia-Telangiectasia
Defective B cell differentiation, Recurrent bronchitis, Bronchiectasis, Decreased circulating IgG... OMIM:208900
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Increased proportion of CD25+ mast cells, Nephritis... ORPHA:2442
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract infections, Sinusit... ORPHA:169105
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Flexion contracture of toe, Obesity ORPHA:3409
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Recurrent fever, Adrenal hyperplasia, Adrenogenital syndrome, Fever OMIM:201910
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Cushing Disease
Lipodystrophy, Truncal obesity, Hypokalemia, Failure to thrive, Adrenal hyperplasia, Diabetes mel... ORPHA:96253
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Hip contracture, Elbow flexion contracture, F... OMIM:618493
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Absence of secondary sex characteristics, Hypothalamic gonadotropi... ORPHA:2235
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Camptodactyly of finger, Abnormality of temperature regulation ORPHA:2926
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Focal Myositis
Elevated circulating creatine kinase concentration, Fever, Weight loss ORPHA:48918
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227990
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased circulating IgG2 level, Recurrent viral ... OMIM:242840
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Tall stature, Type II diabetes mellitus, Eunu... ORPHA:91
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid ... OMIM:180300
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Obesity ORPHA:412035
Atkin-Flaitz Syndrome
Tall stature, Obesity OMIM:300431
Mental Retardation, Autosomal Recessive 13
Truncal obesity OMIM:613192
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity ORPHA:209902
48,Xxxy Syndrome
Abnormal dental enamel morphology, Azoospermia, Tall stature, Inguinal hernia, Type II diabetes m... ORPHA:96263
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Decreased circulating IgA level, Recurrent pneumonia, Decreased circulating total ... OMIM:612301
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimuation test, Hernia, Small for gestational age, Failure ... ORPHA:94065
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Abnormality of the endocrine system, Obesity ORPHA:464288
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit ORPHA:3041
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm... ORPHA:449395
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Perrault Syndrome 4
Increased circulating gonadotropin level, Disproportionate tall stature, Decreased serum estradio... OMIM:615300
Bloom Syndrome
Recurrent herpes, Skin rash, Recurrent tonsillitis, Severe toxoplasmosis, Recurrent gastroenterit... ORPHA:125
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the thyroid gland, Hypertriglyceridemia, Increased body weight OMIM:182290
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227982
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Type II diabetes mellitus ORPHA:401923
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoglycemia, Weight loss, Hypoinsulinemia, Reduced C-peptide level, Re... ORPHA:2126
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypothyroidism, Hyperlipidemia, Precocious puberty, Obesity ORPHA:254346
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98754
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Failure to thrive in infancy, Hypertriglyceridemia, Delayed... ORPHA:819
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Elevated alpha-fetoprotein, Joint contracture of the hand OMIM:208910
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestational age OMIM:616026
Idiopathic Neonatal Atrial Flutter