Hydroxyacyl Glutathione Hydrolase Deficiency |
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Glyoxalase deficiency |
OMIM:614033 |
Lactate Dehydrogenase B Deficiency |
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Reduced lactate dehydrogenase B level |
OMIM:614128 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
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Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Alcohol Sensitivity, Acute |
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Reduced acetaldehyde dehydrogenase level |
OMIM:610251 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Keratosis, Focal Palmoplantar And Gingival |
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Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
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Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Acatalasemia |
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Reduced catalase level |
OMIM:614097 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Ichthyosis Hystrix, Lambert Type |
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Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Hyperkeratosis Lenticularis Perstans |
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Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
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Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
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Hyperkeratosis |
OMIM:167900 |
Epidermolysis Bullosa Simplex 1C, Localized |
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Hyperkeratosis |
OMIM:131800 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Reticulate Acropigmentation Of Kitamura |
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Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
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Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613000 |
Palmoplantar Keratoderma-Deafness Syndrome |
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Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Palmoplantar Keratoderma, Punctate Type Iii |
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Hyperkeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
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Hyperkeratosis |
ORPHA:1659 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
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Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency 18 |
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Defective T cell proliferation |
OMIM:615615 |
Cardiomyopathy, Dilated, 1R |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Glycine N-Methyltransferase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
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Hyperkeratosis |
OMIM:615028 |
Ichthyosis, Lamellar, Autosomal Dominant |
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Hyperkeratosis |
OMIM:146750 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Left Ventricular Noncompaction 10 |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Left Ventricular Noncompaction 8 |
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Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Gg |
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Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Left Ventricular Noncompaction 1 |
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Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
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Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Immunodeficiency 11A |
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Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Epidermolytic Hyperkeratosis 2 |
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Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Gilbert Syndrome |
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Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Vohwinkel Syndrome, Variant Form |
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Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Porokeratosis 7, Multiple Types |
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Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
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Parakeratosis |
OMIM:175800 |
Peeling Skin Syndrome 5 |
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Hyperkeratosis |
OMIM:617115 |
Immunodeficiency 66 |
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Defective T cell proliferation |
OMIM:618847 |
Cardiomyopathy, Dilated, 1D |
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Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Bile Acid Conjugation Defect 1 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
Atrial Standstill |
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Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Elevated gamma-glutamyltransferase... |
OMIM:614480 |
Sick Sinus Syndrome 2 |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Immunodeficiency, Common Variable, 2 |
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Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
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Hyperkeratosis |
OMIM:610227 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Familial Benign Chronic Pemphigus |
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Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Cholestasis-Lymphedema Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Elevated circulating alkaline phosphatase ... |
OMIM:214900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... |
OMIM:616278 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
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Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:235555 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Immunodeficiency 96 |
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Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Jaundice, ... |
ORPHA:567983 |
Hereditary Orotic Aciduria |
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Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... |
ORPHA:572 |
Congenital Disorder Of Glycosylation, Type Iil |
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Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... |
OMIM:614576 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Reduced delayed hypersensitivity |
OMIM:242700 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Impaired T cell function, Decreased lymphocyte proliferation in... |
OMIM:613179 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation |
ORPHA:179494 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function |
OMIM:201100 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Schimke Immuno-Osseous Dysplasia |
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Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
Wiskott-Aldrich Syndrome |
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Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function |
OMIM:176690 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
|
Patent ductus arteriosus, Impaired T cell function |
OMIM:188400 |