Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepat... |
OMIM:612526 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertension, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes me... |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Loss of glute... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... |
OMIM:232700 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser... |
OMIM:615238 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ... |
OMIM:604367 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Diabetes mellitus, Hepatom... |
ORPHA:79084 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased ... |
ORPHA:79085 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... |
ORPHA:435651 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Hypertension, Elevated circulating ... |
OMIM:615980 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Decreased circulating IgA level, Increased ... |
OMIM:608106 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hypertriglyceridemia, Hyperinsulinemia, Increased adipose tissue... |
ORPHA:71529 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Congestive heart failure, Hypertension, Obesity, H... |
OMIM:615703 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Polyarticular arthritis |
OMIM:235900 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:610717 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
OMIM:614480 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... |
OMIM:619220 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Alopecia, Hyperinsulinemia, Contractures of the large joints, Increased cir... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hirsutism, Increased intraabdominal fat, ... |
OMIM:151660 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Angina pectoris, Congesti... |
ORPHA:90970 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Failure to thrive, Lipodystrophy,... |
OMIM:619858 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Insulin re... |
ORPHA:528 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
Immunodeficiency 64 With Lymphoproliferation |
|
Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in response to mi... |
OMIM:618534 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Cellulitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Lipodystrophy... |
ORPHA:2348 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... |
OMIM:613424 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased circulating IgG2 level, Bronchiectasis, Increased circulating IgM level, Decreased spec... |
OMIM:615513 |
Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Cirrhosis, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Maternal diab... |
ORPHA:79083 |
Autoimmune Lymphoproliferative Syndrome |
|
Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune... |
OMIM:601859 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Hypertension |
ORPHA:1879 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Hepatic stea... |
OMIM:608709 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Diabetes mellitus, Hypercholesterolemia, Obesity |
OMIM:608320 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hypert... |
ORPHA:79086 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino... |
ORPHA:369 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Minimal subcutaneous fat, Ventricular arrhythmia, Supraventricular arrhythmia, Reduced subcutaneo... |
ORPHA:280365 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Short stature, Type II diabetes mellitus, Insulin resistance, Failure to th... |
ORPHA:181393 |
Analbuminemia |
|
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... |
OMIM:616000 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... |
OMIM:300310 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... |
ORPHA:99886 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Lipodystrophy, Primary hypot... |
ORPHA:300536 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Flexion contracture, Weight loss, Reduced subcutaneous ... |
ORPHA:1979 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... |
ORPHA:75234 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Syncope, Maternal diabetes... |
ORPHA:276580 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol... |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat |
ORPHA:90160 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Small for gestational age, Failure to thrive, Generalized lipodystrophy, Slender build |
ORPHA:50811 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Familial Isolated Dilated Cardiomyopathy |
|
Lipoatrophy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Primary... |
OMIM:616033 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin... |
OMIM:232400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... |
OMIM:617241 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy, Cardiac shunt |
OMIM:305800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Alopecia, Increased facial adipose tissue, Flexion contracture, Hyperinsuli... |
OMIM:248370 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Progressive loss of facial a... |
OMIM:613913 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Sinusitis, Otitis media, Decreased circulating IgG level |
OMIM:312863 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia |
ORPHA:329249 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Vasculitis in the skin, Absence of subcutaneous... |
ORPHA:90159 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating IgA level, Agammaglob... |
OMIM:619707 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Eczema, Complete or near-complete a... |
OMIM:607271 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance |
OMIM:145750 |
Drug-Induced Localized Lipodystrophy |
|
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat |
ORPHA:90157 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... |
OMIM:612158 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical carcinoma, Enlarged kidney, Neonatal hypoglycemia, Hepatob... |
OMIM:130650 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypothermia, Hypert... |
OMIM:245400 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Hyperinsulinemia, Flexion contracture, Hyperglycemia, Brittle hair, Decreased adipose t... |
OMIM:608612 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Elevate... |
OMIM:613327 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Increased circulating ferritin concentration, Fever, Hepatomegaly, Hypertriglyceridemia... |
OMIM:603552 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Increased circulating IgM level, Arthritis |
ORPHA:37748 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Adipose tissue loss, Postprandial hypergl... |
OMIM:246200 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:616636 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Elevated circulating creatine kinase concentration, Increased LDL chol... |
OMIM:616516 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin |
ORPHA:141184 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Flexion contracture, Elevated hepatic transaminase, Failure to thrive, Lipodystrophy, Hepatomegal... |
OMIM:617591 |
Riboflavin Deficiency |
|
Hypothermia, Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:603909 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recur... |
OMIM:612692 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... |
OMIM:613500 |
Immunodeficiency 27A |
|
Rheumatoid factor positive, Increased inflammatory response, Increased circulating IgM level, Sal... |
OMIM:209950 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Niemann-Pick Disease, Type B |
|
Short stature, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, ... |
OMIM:607616 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissu... |
OMIM:608594 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... |
OMIM:300400 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Ankle clonus, Decreased T cell activation, Chronic oral candidiasis, He... |
OMIM:308230 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... |
ORPHA:86816 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroid peroxidase antibody positivity, Skin rash, Increased circulating IgG level, Anti-bet... |
OMIM:618048 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Aredyld Syndrome |
|
Short stature, Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Hepatomegaly, Intra... |
ORPHA:1133 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Fever, Hepatomegaly, Hypertriglyceridemi... |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Hepatic steatosis, Failure to thrive, Hypoglycemia, Increased blood urea nitroge... |
OMIM:617872 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Elevated hepatic tran... |
OMIM:269700 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Premature ovarian i... |
ORPHA:79237 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphocytic interstitial pneum... |
OMIM:618495 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Chilblain Lupus |
|
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... |
ORPHA:90280 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:617228 |
Stiff Skin Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Lipoatrophy, Short stature |
ORPHA:2833 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Secondary amenorrhea, Inappr... |
OMIM:301033 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Elevated systolic blood pressure, Elevated ... |
ORPHA:275555 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:605814 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... |
ORPHA:1414 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Fe... |
ORPHA:2849 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Growth delay |
OMIM:618010 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Short stature, Glycosuria, Elevated hepatic transaminase, Failure to thrive... |
ORPHA:2089 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Stiff Skin Syndrome |
|
Knee flexion contracture, Lipodystrophy, Elbow flexion contracture, Camptodactyly |
OMIM:184900 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Hepatic failure, Decreased circulating ceruloplasmin concentrati... |
OMIM:616828 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Temple Syndrome |
|
Flexion contracture, Short stature, Small for gestational age, Obesity, Maturity-onset diabetes o... |
OMIM:616222 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... |
ORPHA:26792 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Pneumo... |
OMIM:617638 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Increased circulating IgE level, Decreased ... |
OMIM:615767 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... |
OMIM:308240 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... |
OMIM:618969 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Increased circulating ferritin concentration, Fever, Hypertriglyceridemia, Sp... |
OMIM:613101 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level |
OMIM:300988 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnor... |
ORPHA:2298 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:98855 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Decreased testicular size, Type II diabetes mellitus, Secondary amenor... |
ORPHA:3085 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Hypo... |
ORPHA:159 |
African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Infertility, Elevated transferrin sat... |
ORPHA:465508 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... |
ORPHA:209902 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... |
OMIM:240500 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Hypergonadotropic hypogonadism, Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Umbilical hernia |
ORPHA:95717 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Fever, Weight loss |
ORPHA:30925 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
C3 Glomerulopathy |
|
Lipodystrophy, Elevated circulating creatinine concentration, Hypertension |
ORPHA:329918 |
Zika Virus Disease |
|
Wrist swelling, Conjunctivitis, Myelitis, Skin rash, Arthritis, Ankle swelling, Increased circula... |
ORPHA:448237 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... |
OMIM:619281 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Ecze... |
OMIM:243700 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... |
OMIM:300291 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Small for gestational age, Failure to thrive, Generalized lipodystrophy, Intrauter... |
OMIM:608154 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Neutropenia in presence of anti-... |
OMIM:607594 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Fever, Panniculitis, Hypertriglyceridemia, Splenome... |
OMIM:618398 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Atypical s... |
ORPHA:791 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:859 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
Short Syndrome |
|
Birth length less than 3rd percentile, Small for gestational age, Insulin resistance, Inguinal he... |
OMIM:269880 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, Hypothermia, Left ventricula... |
OMIM:614654 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:98853 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula... |
ORPHA:370 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level, Antineutrophil antibody positivity |
ORPHA:2688 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Bronchiectasis, Decreased circulating IgG level |
OMIM:193670 |
Igg4-Related Aortitis |
|
Antinuclear antibody positivity, Increased circulating IgG4 level, Increased circulating antibody... |
ORPHA:449400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Short stature, Hyperlipidemia |
ORPHA:364 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Autoimmune Hepatitis |
|
Fulminant hepatitis, Increased circulating antibody level, Anti-liver cytosolic antigen type 1 an... |
ORPHA:2137 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic glycogen, Short stature... |
ORPHA:264580 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... |
OMIM:262190 |
H Syndrome |
|
Hernia, Short stature, Enlarged kidney, Camptodactyly, Hepatosplenomegaly, Lipodystrophy, Diabete... |
ORPHA:168569 |
Ruijs-Aalfs Syndrome |
|
Decreased body weight, Hypogonadism, Elbow flexion contracture, Hepatocellular carcinoma, Lipodys... |
OMIM:616200 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Fever, Hyponatremia, Polydipsia |
ORPHA:178029 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Obesity, Glucose intolerance, Postural hypotension with compensato... |
ORPHA:369873 |
Glycerol Kinase Deficiency |
|
Short stature, Small for gestational age, Hypoglycemia, Growth delay, Hypertriglyceridemia |
OMIM:307030 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Limitation of joint mobility, M... |
ORPHA:69126 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Alg3-Cdg |
|
Lipodystrophy, Decreased liver function, Abnormality of the endocrine system, Arthrogryposis mult... |
ORPHA:79321 |
Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Cerebral ischemia, Transient ischemic attack, Hypertension, Dia... |
ORPHA:36382 |
Idiopathic Localized Lipodystrophy |
|
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat |
ORPHA:90158 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypothermia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bil... |
OMIM:618329 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Lack of T cell function, Inflammatory abnormality of... |
ORPHA:277 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... |
ORPHA:48377 |
Immunodeficiency 36 With Lymphoproliferation |
|
Bronchiectasis, Autoimmunity, Decreased circulating IgA level, Increased circulating IgM level, D... |
OMIM:616005 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Keratoconjunctivitis sicca, Punctate keratitis, Thyroiditis, Uve... |
OMIM:617388 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... |
OMIM:619386 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... |
OMIM:252011 |
Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Camptodactyly of toe, Inguinal hernia, Hirsutism, Cryptorchidism, ... |
OMIM:175700 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Short stature, Elevated ... |
ORPHA:79240 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep... |
OMIM:261750 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neo... |
ORPHA:95716 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Small for gestational age, Insulin resistance, Severe intrauterine growth retardat... |
ORPHA:73272 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Paragangliomas 6 |
|
Hypertension |
OMIM:618464 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Elevated circulating C-reactive protein concentration, Panniculitis, Failure to th... |
OMIM:617099 |
Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Hypertension, Con... |
ORPHA:902 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Gastrointesti... |
ORPHA:79319 |
Short Syndrome |
|
Weight loss, Insulin resistance, Inguinal hernia, Diabetes mellitus, Lipodystrophy, Severe short ... |
ORPHA:3163 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ... |
OMIM:614727 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... |
OMIM:609069 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short stature, Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperl... |
ORPHA:90154 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kin... |
ORPHA:42 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis, Complement deficiency |
OMIM:216950 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Joint contracture of the hand, Arthropathy, Craniosynostosis, Hip dislocation, Ec... |
OMIM:618523 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Maturity-onset diabete... |
OMIM:609812 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, F... |
ORPHA:444490 |
Insulin-Like Growth Factor I, Resistance To |
|
Decreased body weight, Short stature, Reduced subcutaneous adipose tissue, Lipodystrophy, Diabete... |
OMIM:270450 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... |
OMIM:619924 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Decreased c... |
OMIM:618394 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D... |
OMIM:615710 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... |
OMIM:618620 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension |
OMIM:189800 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Premature graying of hair, Reduced... |
ORPHA:769 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, P... |
OMIM:615830 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronchiectasi... |
OMIM:301082 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased liver function, In... |
OMIM:617093 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circulating IgM level, Pneu... |
OMIM:242860 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing ch... |
ORPHA:562639 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increase... |
ORPHA:412 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the nervous system, Prostate cancer, Genital neoplasm, Weight loss, Neoplasm of the l... |
ORPHA:2126 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Arthritis, Otitis media, Pneumonia |
OMIM:601457 |
Permanent Congenital Hypothyroidism |
|
Hypothermia, Jaundice, Short stature, Umbilical hernia |
ORPHA:226292 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Recurrent pancreatitis, Impaired glucose tolerance, Small for ge... |
OMIM:606721 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Hepatitis, Steatorrhea, Inguinal hernia, Postprandial hyperglycemia, Cholest... |
ORPHA:440713 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Congenital Short Bowel Syndrome |
|
Lipoatrophy |
ORPHA:2301 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... |
ORPHA:189439 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Transient ischemic attack, Lacunar stroke, Hypertension |
OMIM:616779 |
Cog7-Cdg |
|
Small for gestational age, Jaundice, Recurrent fever, Elevated hepatic transaminase, Hepatospleno... |
ORPHA:79333 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic oral candidia... |
ORPHA:276 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Atrophic scars, Lipodystrophy, Aortic valve stenosis, Atypical scarring of s... |
ORPHA:75496 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... |
OMIM:301081 |
Graft Versus Host Disease |
|
Jaundice, Fasciitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatosplenomegaly, Failu... |
ORPHA:39812 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Arthritis, Monoclonal elevation of IgG, Membranoprolifer... |
ORPHA:91139 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... |
OMIM:619824 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... |
ORPHA:71 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limited hip movement, Increased circulating IgG level, Limitation of movement at ankles, Limited ... |
ORPHA:206594 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Elevated hepatic transam... |
OMIM:256040 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Osteolysis, Osteoporosis |
ORPHA:100024 |
Immunodeficiency 11 |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... |
ORPHA:158057 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets, Failure to thrive, Fever, Polyd... |
ORPHA:213 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Increased circulating IgG ... |
OMIM:615934 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... |
OMIM:615947 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Flexion contracture, Generalized lipodystrophy, Hepatomegaly, Panniculitis, Splenomegaly, Recurre... |
OMIM:619183 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum |
OMIM:615214 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... |
ORPHA:158061 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to m... |
OMIM:615592 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228305 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Multiple jo... |
ORPHA:157954 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Lipoatrophy |
ORPHA:261304 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru... |
OMIM:620010 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Reduced natural... |
OMIM:615559 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Anti-thyroid peroxidase antibody positivity, Recurrent sinusitis... |
OMIM:615577 |
Immunodeficiency, Common Variable, 6 |
|
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... |
OMIM:613496 |
Acrogeria |
|
Lipoatrophy, Telangiectasia of the skin |
ORPHA:2500 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:610006 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Hypothermia, Jaundice, Nonketotic hypoglycemia, Elevated hepatic tran... |
ORPHA:20 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Hypothermia, Elevated circulating creatine kinase concentration, Chole... |
OMIM:618775 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczema |
OMIM:618985 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Jaundice, Hy... |
ORPHA:99829 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension |
OMIM:602079 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... |
OMIM:619774 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow |
ORPHA:89843 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Increased susceptibility to fractures, Decreased circulating total IgM, Bronchiectasis, Cutaneous... |
OMIM:619752 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:500009 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Abnormal circulat... |
OMIM:241600 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Multiple lipomas, Increased adipose tissue, Hypertension, Congestive heart failure, Dilated cardi... |
ORPHA:1349 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Scleros... |
OMIM:619662 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:611926 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Hypertension, Congestive hea... |
ORPHA:225 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Craniosynostosis, Skin rash, Cutaneous abscess, Chronic mucocutaneous candid... |
OMIM:147060 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Abnormal subcutaneous fat tissue distribution, Abnormal circulating apolipoprotein... |
ORPHA:357074 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgA ... |
OMIM:614069 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating specific IgE antibody, Increased circulating IgA level, Increas... |
ORPHA:74 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... |
OMIM:603553 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... |
OMIM:619510 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia, Recurrent fever |
OMIM:619468 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,... |
OMIM:267700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:615158 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Decreased circulating antibody level |
OMIM:616098 |
Immunodeficiency 23 |
|
Bronchiectasis, Allergic rhinitis, Eczema, Membranoproliferative glomerulonephritis, Increased ci... |
OMIM:615816 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... |
OMIM:261680 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Autoimmunity, Decreased lymphocyte apoptosis, Autoimmune th... |
OMIM:614470 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Fucosidosis |
|
Hypothyroidism, Abnormality of the gallbladder, Failure to thrive, Hepatomegaly, Lipoatrophy |
ORPHA:349 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lack of facial subcutaneous fat, Absence of sub... |
ORPHA:90156 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Osteopenia |
OMIM:610539 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... |
ORPHA:169160 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
Menkes Disease |
|
Hypothermia, Decreased circulating ceruloplasmin concentration, Intrauterine growth retardation, ... |
OMIM:309400 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Failure to thrive, Hypocholesterolemia, Oral-pharyngeal... |
OMIM:610883 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjugated hyperbili... |
ORPHA:3111 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Prolonged neonatal jaundice, Large for gestational age, Umbilical hernia |
ORPHA:226313 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal... |
OMIM:615812 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Shagreen patch |
ORPHA:2617 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Short stature, Elevated hepatic transaminase,... |
ORPHA:98907 |
Pyoderma Gangrenosum |
|
Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammation of the large i... |
ORPHA:48104 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia, Abnormal circulating thyroglobulin level, Failure to thrive, Neonatal hyperbilirubin... |
ORPHA:90674 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... |
ORPHA:101330 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Gastritis, Bone marrow hypocellularity, Panniculitis, Colitis, Antinuclear an... |
ORPHA:3261 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a... |
ORPHA:98908 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He... |
ORPHA:91 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, W... |
ORPHA:2905 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Congenital Enterovirus Infection |
|
Hepatic failure, Hepatitis, Hypothermia, Fetal ascites, Hyperammonemia, Fever, Cholestasis, Hypoa... |
ORPHA:292 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Fever, Growth delay, Hypercholesterolemia, Peritonitis,... |
ORPHA:567548 |
Atypical Werner Syndrome |
|
Abnormal testis morphology, Premature graying of hair, Hepatic steatosis, White forelock, Neoplas... |
ORPHA:79474 |
Griscelli Syndrome Type 2 |
|
Jaundice, Fever, Hyperlipidemia, Hepatomegaly, Splenomegaly |
ORPHA:79477 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Neonatal death, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Breast aplasia, Polycyst... |
OMIM:615363 |
Progeroid Syndrome, Petty Type |
|
Short stature, Reduced subcutaneous adipose tissue, Failure to thrive, Shagreen patch, Lipoatroph... |
ORPHA:2963 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Decreased plasma carnitine... |
OMIM:201475 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Weight loss,... |
ORPHA:1501 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Hypothermia, Prolonged neonatal jaundice, Umbilical he... |
ORPHA:226316 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to... |
OMIM:618234 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... |
OMIM:616834 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Agammaglobulinemia, Decreased c... |
OMIM:619705 |
Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Increased serum iron, Impotence, Glucose intolerance, Hepatocellular carcino... |
OMIM:235200 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Precocious puberty, Maturity-onset diabetes of the young |
ORPHA:254531 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Increased circulating IgE level, Pustule |
OMIM:616069 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure... |
OMIM:602579 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Insulin resistance, Polycystic ovaries, Hirsutism, ... |
ORPHA:90301 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Diabetes mellitus, Abnorm... |
OMIM:540000 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Hypertension, Intracranial hemorrha... |
ORPHA:363618 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Rheumatoid factor positive, Pro... |
ORPHA:85435 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circu... |
OMIM:212138 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, Short stature, Elevated hepatic transaminase, Left ventricular hypertrophy, ... |
OMIM:619127 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carc... |
OMIM:232200 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged ovaries, Reduced subcutane... |
ORPHA:508 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
Coproporphyria, Hereditary |
|
Splenomegaly, Jaundice, Hypertension, Hepatomegaly, Tachycardia |
OMIM:121300 |
Lassa Fever |
|
Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypothermia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, E... |
ORPHA:230 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hyperuricemia, Diabetes mellitus, Hirsutism, Abnormality of the thyroid gland, Hy... |
ORPHA:77296 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... |
ORPHA:785 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Methylmalonic acidemia, Hypothermia, Elevated hepatic transaminase, Increase... |
ORPHA:17 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
Galactosemia Iii |
|
Hypergalactosemia, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis, Pneumonia, Increased... |
ORPHA:217390 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
Atrial Standstill |
|
Flexion contracture, Muscular dystrophy, Left ventricular noncompaction, Skeletal muscle atrophy,... |
ORPHA:1344 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hypocholesterol... |
OMIM:266510 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, No... |
ORPHA:99901 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism, Lipody... |
OMIM:618922 |
Laron Syndrome |
|
Delayed puberty, Hypoglycemia, Abnormality of the endocrine system, Hypercholesterolemia |
ORPHA:633 |
Cog4-Cdg |
|
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolemia, Fatal liver f... |
ORPHA:263501 |
Werner Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ... |
OMIM:277700 |
Pgm3-Cdg |
|
Osteomyelitis, Bronchiectasis, Allergic rhinitis, Neutropenia in presence of anti-neutropil antib... |
ORPHA:443811 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Failure to thrive, Lipodystrophy |
OMIM:219200 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... |
ORPHA:85410 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Increased serum iron, Hypogonadism, Secondary amenorrhea, Elevated t... |
OMIM:613313 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Unexplained fevers, Polydipsia |
OMIM:125800 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity, Hypogonadism |
OMIM:615996 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Malignant ... |
OMIM:614921 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Left ventricular hypertrophy, Hypopituitarism, Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Unexplained fevers, Polydipsia |
OMIM:304800 |
Methanol Poisoning |
|
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia |
ORPHA:31825 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly... |
OMIM:616860 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Fever, Hep... |
ORPHA:540 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Myelofibrosis, Lymphadenopathy, Bone marrow hypocell... |
OMIM:301078 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Prolonged ne... |
ORPHA:90673 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Heart murmur, Congestive heart failure, Tricuspid s... |
ORPHA:95459 |
Microtriplication 11Q24.1 |
|
Short stature, Obesity, Hyperlipidemia |
ORPHA:289522 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circulating Ig... |
OMIM:615758 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Hypothermia, Joint contracture |
OMIM:614498 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elbow flexion contracture, Elevated hepatic transaminase, Elevated circulating creatine kinase co... |
OMIM:608836 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228308 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Hypertriglycer... |
OMIM:617575 |
Familial Cold Urticaria |
|
Fever, Polydipsia |
ORPHA:47045 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:157 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Elevated circulating creatine kinase concentration, Delayed puberty, Growth delay, Hepatomegaly, ... |
OMIM:615704 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increa... |
ORPHA:890 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hypogonadism, Hepatomegaly, Joint contracture, Splenomegaly |
OMIM:608540 |
Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:614582 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia, Decreased circulating... |
OMIM:619652 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypoproteinemia, Growth delay, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Elevated circulat... |
OMIM:619111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia, Acute hepatic failure |
OMIM:615453 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypothyroidism, Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Joint contracture of ... |
ORPHA:456312 |
Galactose Mutarotase Deficiency |
|
Hypergalactosemia, Failure to thrive, Cholestasis, Hepatomegaly, Decreased liver function |
ORPHA:570422 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Flexion contracture, Hy... |
OMIM:616733 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Anterior hypopituitarism, Hypertension |
ORPHA:181 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Decreased circulating total IgM |
OMIM:182410 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Abnormality of the liver, Decreased plasma carnitine, Mildly elevated creatine kinase, Hepatomega... |
ORPHA:254864 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Hypercalcemia, Growth delay, Obesity |
ORPHA:96168 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Flexion contracture, Abnormal eyebrow morphology, Absent eyelashes, Insulin resistance,... |
ORPHA:90153 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Meningococcal Meningitis |
|
Hypothermia, Fever, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Elbow flexion contracture, Ele... |
OMIM:618156 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... |
ORPHA:331206 |
Extracranial Carotid Artery Aneurysm |
|
Abnormality of connective tissue, Cerebral ischemia, Vasculitis, Hypertension, Diabetes mellitus,... |
ORPHA:494424 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Splenomegaly, Hepatomegaly, Abnormal calcium-phosphate regulati... |
ORPHA:417 |
Placental Insufficiency |
|
Small for gestational age, Proportionate short stature, Insulin resistance, Intrauterine growth r... |
ORPHA:439167 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Peritonitis, Hyponatremia, Hyperglycemia, Ascites |
ORPHA:391673 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Increased circulating IgE level, Erythroderma |
OMIM:614328 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:615119 |
Primary Biliary Cholangitis |
|
Hepatitis, Autoimmunity, Increased circulating IgA level, Increased circulating IgM level, Gastro... |
ORPHA:186 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
Immunodeficiency 32B |
|
Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Impaired oxidative burst, Pneumonia |
OMIM:226990 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
Whipple Disease |
|
Cachexia, Insulin resistance, Fever, Hepatomegaly, Hyponatremia, Splenomegaly |
ORPHA:3452 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Short stature, Enlarged kidney, Pancreatitis, Elevated hepatic transaminase, Hepat... |
OMIM:232220 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... |
ORPHA:99885 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypothermia, Jaundice, Hyperhomocystinemia, Elevated circulating palmitol... |
ORPHA:79282 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Fever, Growth delay, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Smith-Magenis Syndrome |
|
Increased body weight, Hypertriglyceridemia, Short stature, Hypercholesterolemia |
OMIM:182290 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Overlap Myositis |
|
Pulmonary arterial hypertension, Abnormal circulating lipid concentration, Abnormality of connect... |
ORPHA:206572 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li... |
OMIM:246900 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Prostatitis, Increased circulating antibody level, Autoimmunity... |
ORPHA:449432 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Infertility, Azoospermia, Increased circulating ferritin concent... |
OMIM:602390 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly |
OMIM:105200 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... |
ORPHA:59303 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Rhabdoid Tumor |
|
Weight loss, Neoplasm of the liver, Hypertension, Internal hemorrhage, Hypercalcemia |
ORPHA:69077 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture |
ORPHA:171442 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Abnormality of temperature regulation, Hip contracture, Short stature, Hypothermia, Elbow flexion... |
OMIM:618493 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Hypertension, Pit... |
OMIM:102200 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... |
ORPHA:555905 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Short stature, Insulin resistance, Inguinal hernia, Dia... |
OMIM:616541 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Decreased serum estradiol, Small for gestational age, Neoplasm of th... |
ORPHA:2959 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m... |
OMIM:610475 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Abnormal dental enamel morphology |
ORPHA:757 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Becker Nevus Syndrome |
|
Lipoatrophy |
ORPHA:64755 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Short stature, Hepatocellular adenoma, Enlarged kidney, Hepa... |
ORPHA:79259 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Conjunctivitis, Atrophic gastritis, Decreased circulating total IgM, Bronchiectasis, Erythema nod... |
OMIM:614700 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young |
ORPHA:96184 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Dilated cardiomyopathy, Hepatic steatosis, Hypertroph... |
OMIM:231530 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Abnormality of the liver, Decreased body weight, Sh... |
ORPHA:1667 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Hyper... |
OMIM:617156 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Antinuclear a... |
ORPHA:331235 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Hypertriglyceridemia, Fever, Increased circulating ferritin concentration |
OMIM:619313 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Rickets, Failure to thrive, Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension, Cryptorchidism |
ORPHA:1192 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Decreased circulating antibody level, Autoi... |
ORPHA:2442 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Increased bone mineral density, Hyperostosis cranialis interna, Myel... |
OMIM:231095 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Brucellosis |
|
Sacroiliac arthritis, Septic arthritis, Endocarditis, Myocarditis, Osteomyelitis, Hip osteoarthri... |
ORPHA:1304 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hepatic steatosis, Hypertrophic cardiomyopathy, Failure to thrive, Decr... |
ORPHA:70472 |
Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis |
ORPHA:3156 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Type I diabetes me... |
OMIM:618549 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... |
OMIM:618213 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Acetabular dysplasia, Nephritis, Recurrent pneumonia, Bone marrow hypocellul... |
OMIM:617303 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Mulibrey Nanism |
|
Short stature, Cachexia, Intrauterine growth retardation, Hepatomegaly |
ORPHA:2576 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia, Abnormal circulating thyroglobulin level, Hypoglycemia, Pituitary dwarfism, Overweig... |
ORPHA:226307 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyroiditis, Scler... |
ORPHA:64744 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... |
ORPHA:64743 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Jaundice, Increased circulating T4 concentration, Elevated hepatic transaminas... |
ORPHA:525731 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperlipidemia, Intrauterine growth retardation, Obesity, Arthrogryposis multi... |
ORPHA:254346 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Right bundle branch block, Flexion contracture, Sinus tachycardi... |
OMIM:614008 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Intermittent hypothermia, Hypomagnesemia, Neonatal hypoglycemia |
OMIM:223360 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
Polycystic Kidney Disease 5 |
|
Hypertension, Hepatosplenomegaly |
OMIM:617610 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Elevated hepatic transaminase, Camptodactyly, Hepatos... |
ORPHA:79322 |
Congenital Hypothyroidism |
|
Hypothermia, Prolonged neonatal jaundice, Short stature, Umbilical hernia |
ORPHA:442 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Short stature, Achilles tendon contracture, Steatorrhea, Hepatic steatosis, Fai... |
OMIM:616263 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokalemia, Failur... |
ORPHA:320 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Thick hair, Highly arched eyebrow, Hypercholesterolemia |
ORPHA:401923 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Small for gestational age, Decreased circulating renin l... |
OMIM:218030 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:905 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala... |
OMIM:256810 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Hypertension, Arrhythmia |
OMIM:617021 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertension, Generalized lipodystrophy, Lipoatrophy, Absenc... |
OMIM:616914 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Growth delay, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:79078 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Reduced ... |
OMIM:260370 |
Somatostatinoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97283 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas, Graves disease, Palpitations, Chondrocalcinosis, G... |
ORPHA:358 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating antibody level, Autoimmunity, Stomatitis, Autoimmune thrombocytopenia, Auto... |
OMIM:613011 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Growth delay |
ORPHA:168593 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hyperlipidem... |
ORPHA:565612 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
De Barsy Syndrome |
|
Short stature, Inguinal hernia, Failure to thrive, Lipodystrophy, Intrauterine growth retardation... |
ORPHA:2962 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly |
OMIM:266150 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia, Fever, Polydipsia |
ORPHA:223 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic in... |
OMIM:615935 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating ferritin concentration, Fever, Hypertriglyceridemia, Sp... |
OMIM:619802 |
Rift Valley Fever |
|
Hepatitis, Skin rash, Uveitis, Increased circulating IgM level, Infectious encephalitis, Increase... |
ORPHA:319251 |
Vipoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... |
ORPHA:97282 |
Tularemia |
|
Conjunctivitis, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflammatory a... |
ORPHA:3392 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Sick Sinus Syndrome 2 |
|
Mitral valve prolapse, Left ventricular hypertrophy, Left ventricular noncompaction |
OMIM:163800 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Cholec... |
ORPHA:90041 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypona... |
ORPHA:275761 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone stimul... |
ORPHA:3464 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Short stature, Hepatocellular carcinoma, Intrahepatic cholestas... |
OMIM:601847 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Myelofibrosis, Bone marrow hypocellularity... |
ORPHA:86843 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia |
ORPHA:403 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent... |
OMIM:231680 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... |
ORPHA:556037 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Glycosuria, Jaundice, Elevated hepatic transaminase, Failure to thrive, Giant cell hepatitis, Hep... |
OMIM:613404 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Classic Hodgkin Lymphoma |
|
Lymphoma, Weight loss, Osteolysis, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepato... |
ORPHA:391 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... |
ORPHA:348 |
Hyperaldosteronism, Familial, Type I |
|
Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level, Hypertension, Adre... |
OMIM:103900 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Sinusitis, Recurr... |
ORPHA:33110 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Fever, Hepatomegaly,... |
ORPHA:158048 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Fever, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
East Syndrome |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Salt craving, Hypomagnesemia,... |
ORPHA:199343 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o... |
OMIM:614098 |
Lessel-Kubisch Syndrome |
|
Hypertension |
OMIM:618681 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Corneal scarring, Cachexia, Elevated hepatic transaminase, Hypertension, Failu... |
OMIM:610965 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypothermia, Elevated hepatic transaminase, Hyperkalemia, Eleva... |
ORPHA:94093 |
Liddle Syndrome |
|
Hypertension, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Multiple Myeloma |
|
Decreased circulating antibody level, Osteopenia, Increased circulating IgA level, Pathologic fra... |
ORPHA:29073 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Hype... |
ORPHA:404 |
Tenorio Syndrome |
|
Joint laxity, Hypoglycemia, Hypoinsulinemia, Osteopenia |
OMIM:616260 |
Netherton Syndrome |
|
Erythroderma, Increased circulating IgE level, Allergic rhinitis, Decreased circulating IgG level |
OMIM:256500 |
Silver-Russell Syndrome |
|
Short stature, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thrive i... |
ORPHA:813 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Hyperalaninemia, Hypothermia, Failure to thrive, Fever, Hepatomegaly, Low plasma... |
ORPHA:255210 |
Thymoma |
|
Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor antibody ... |
ORPHA:99867 |
Menkes Disease |
|
Chondrocalcinosis, Hernia, Hypothermia, Inguinal hernia, Hypoglycemia, Atypical scarring of skin,... |
ORPHA:565 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty, Hypertension |
ORPHA:52022 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:237800 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Hypertension |
OMIM:166300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Eczema, Autoimmune th... |
OMIM:304790 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible pr... |
ORPHA:251274 |
Smith-Magenis Syndrome |
|
Short stature, Obesity, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemia, Failure to t... |
ORPHA:819 |
Coccidioidomycosis |
|
Osteomyelitis, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbilliform rash, Pericardi... |
ORPHA:228123 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Hypothermia, Elevated hepatic transaminase, Hyperkalemia, Delayed puberty, Fever, ... |
ORPHA:293987 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Type I diabetes mellitus, Elevate... |
ORPHA:96180 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Hepatic steatosis, Myocardial infarction, Failure to thr... |
OMIM:236200 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Short stature, Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational... |
OMIM:616026 |
Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cachexia, Hypertension, Hypogonadism |
ORPHA:97229 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Keppen-Lubinsky Syndrome |
|
Flexion contracture, Lipodystrophy, Failure to thrive, Loss of facial adipose tissue, Congenital ... |
ORPHA:435628 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase ... |
OMIM:300972 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Hypertension, Hepat... |
OMIM:619487 |
Wolman Disease |
|
Hepatic failure, Cachexia, Steatorrhea, Fever, Growth delay, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Cerebral ischemia, Weight loss, Hypertension, Hypertrophic cardi... |
ORPHA:3287 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Small for gestational age, Hypertension |
OMIM:613355 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Failure to thrive, Cholestasis, Hepatomegaly, Decreased liver function, Elevated c... |
OMIM:608104 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Inguinal hernia, Congenit... |
OMIM:600001 |
Gitelman Syndrome |
|
Recurrent fever, Hypokalemia, Increased circulating renin level, Failure to thrive, Salt craving,... |
OMIM:263800 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Cirrhosis, Flexion contracture, Abnormal muscle glycogen content, Elevated hepat... |
ORPHA:367 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Fever, Hepatomegaly, Conjugated hy... |
ORPHA:234 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hyperammonemia, Hepatomegaly |
ORPHA:28 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hypertension, Diffuse alve... |
OMIM:614034 |
Alg9-Cdg |
|
Periportal fibrosis, Lipodystrophy, Hypoplasia of the ovary, Hepatomegaly, Hepatic cysts, Omphalo... |
ORPHA:79328 |
Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Hypertension, Goiter |
OMIM:231690 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Cardiomyopathy, Diffuse hepatic steatosis, Congestive heart failure, Ch... |
ORPHA:746 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension |
OMIM:613870 |
Primary Membranoproliferative Glomerulonephritis |
|
Myocardial infarction, Hypertension |
ORPHA:54370 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent sinusitis, Recurrent oti... |
OMIM:618986 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Increased circulating IgA... |
ORPHA:343 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Widened atrophic scar, Alopecia, Ventral hernia, Cellulitis, Inguinal hernia, Diabetes mellitus, ... |
ORPHA:536532 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... |
OMIM:235555 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Decreased liver function, Brittle hair, El... |
OMIM:124000 |
Galactosemia |
|
Decreased fertility, Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol... |
ORPHA:352 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Hyperaldosteronism, Polydipsia |
OMIM:613677 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Classic Galactosemia |
|
Decreased fertility in females, Hepatic failure, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:79239 |
Essential Thrombocythemia |
|
Acute leukemia, Splenomegaly, Myelofibrosis, Myelodysplasia |
ORPHA:3318 |
Polyarteritis Nodosa |
|
Weight loss, Raynaud phenomenon, Hypertension, Pericarditis, Elevated circulating C-reactive prot... |
ORPHA:767 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Bo... |
OMIM:166600 |
Galactosemia I |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased level of galact... |
OMIM:230400 |
Tick-Borne Encephalitis |
|
Myelitis, Stiff neck, Abnormality of serum cytokine level, Increased circulating IgM level, Incre... |
ORPHA:297 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Abnormality of the liver, Scarring, Elevated hepati... |
ORPHA:79473 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia, Maternal diabetes |
ORPHA:3157 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Insulin resistance, Hypertension, Biliary tract abnormality, Diab... |
OMIM:209900 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... |
ORPHA:136 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Short stature, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic... |
OMIM:211600 |
Dpagt1-Cdg |
|
Flexion contracture, Elevated hepatic transaminase, Intracranial hemorrhage, Camptodactyly, Failu... |
ORPHA:86309 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Abnormal circulating lipid concentration, Hypersplenism, Neoplasm of ... |
ORPHA:77293 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Short stature, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... |
ORPHA:470 |
Nephroblastoma |
|
Neoplasm of the liver, Hypertension, Weight loss |
ORPHA:654 |
Nephronophthisis 18 |
|
Cholestasis, Hypertension, Portal fibrosis |
OMIM:615862 |
Hurler-Scheie Syndrome |
|
Generalized hirsutism, Hernia, Splenomegaly, Hepatomegaly |
ORPHA:93476 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Japanese Encephalitis |
|
Stiff neck, Increased circulating antibody level, Elbow flexion contracture, Increased circulatin... |
ORPHA:79139 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hypertension, Raynaud phenomenon, Ischemic stroke |
OMIM:615750 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Antinuclear ... |
ORPHA:449395 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Short stature, Impaired glucose tolerance, Glucose intolerance... |
OMIM:615630 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:617713 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Inflammatory abnormality of the skin, Skin rash, Decreased circu... |
OMIM:102700 |
Infantile Nephropathic Cystinosis |
|
Glycosuria, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Rickets, Failure to ... |
ORPHA:411629 |
Polycythemia Vera |
|
Pulmonary embolism, Weight loss, Intermittent claudication, Angina pectoris, Hypertension, Epista... |
ORPHA:729 |
Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
Congenital Isolated Acth Deficiency |
|
Hypotension, Hypoglycemic seizures, Neonatal hypoglycemia |
ORPHA:199296 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage |
ORPHA:820 |
Bloom Syndrome |
|
Small for gestational age, Insulin resistance, Adipose tissue loss, Diabetes mellitus, Abdominal ... |
ORPHA:125 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... |
OMIM:212065 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Hyperbilirubinemia, Growth delay, Increased circulating thyroglobulin level, Umbilic... |
OMIM:218700 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity |
ORPHA:90003 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Decreased plasma carnitine, Hypoglycemia, Hyperammonemia, Fever, Hepatomegaly |
OMIM:246450 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Hyp... |
OMIM:215600 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Multiple joint contractures, Short stature, Elevated hepatic transaminase, Hepatosp... |
ORPHA:51 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... |
OMIM:131100 |
Marburg Hemorrhagic Fever |
|
Hypothermia, Jaundice, Hypokalemia, Elevated hepatic transaminase, Elevated circulating creatine ... |
ORPHA:99826 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone level, Precocious puberty,... |
ORPHA:90795 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... |
OMIM:614473 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia |
ORPHA:369929 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotrop... |
ORPHA:298 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Elevated hepatic transaminase, Hyperprolinemia, Hepatomegaly, Cardiomegaly, Fail... |
OMIM:619064 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... |
OMIM:600802 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear... |
OMIM:611126 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Growth delay, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Erdheim-Chester Disease |
|
Weight loss, Increased bone mineral density, Osteolysis, Fever, Xanthelasma, Polydipsia |
ORPHA:35687 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension |
OMIM:611489 |
Myelofibrosis |
|
Splenomegaly, Myelofibrosis, Myeloproliferative disorder |
OMIM:254450 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, Dela... |
OMIM:232240 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Splenomegaly, Hypertension, Cerebral hemorrhage |
OMIM:133100 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Conjunctivitis, Flexion contracture, Bone marrow hypocellularity, Increased circulating IgM level... |
ORPHA:505248 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... |
ORPHA:231625 |
Alg12-Cdg |
|
Abnormal bone ossification, Camptodactyly, Failure to thrive, Recurrent hypoglycemia, Hyponatremi... |
ORPHA:79324 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Short stature, Failure to thrive, Elevated circulating C-reactive protein concentration, Hepatome... |
OMIM:619423 |
Leishmaniasis |
|
Weight loss, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent fever, Hypoalbu... |
ORPHA:507 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Ischemic stroke, Cerebral hemorrhage, Decr... |
ORPHA:280679 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Infantile Refsum Disease |
|
Very long chain fatty acid accumulation, Elevated circulating phytanic acid concentration, Short ... |
ORPHA:772 |
Glucagonoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97280 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level, Eczema, Joint hemorrhage |
OMIM:313900 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Polydipsia |
OMIM:615994 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Slender build, Short stature, Small for gestational age, Unconjugated hyperbilirubinem... |
OMIM:613658 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Increased circulating ACTH level, Hypokalemia, Pituitary adenoma, Hyp... |
OMIM:219090 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Small for gestational age, Failure to thrive, Growth delay, Hyperlipidemia, Intrau... |
ORPHA:1830 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Arrhythmia |
ORPHA:3222 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:167800 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Shock, Hypotension, Vasculitis |
ORPHA:70578 |
Interstitial Lung And Liver Disease |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... |
OMIM:615486 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Small for gestational age, Hypokalemia, Inc... |
OMIM:241200 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Nephritis, Sinusitis, Parotitis, C... |
ORPHA:449427 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Hypertension |
OMIM:600666 |
Felty Syndrome |
|
Lymphoma, Weight loss, Cellulitis, Arthritis, Synovitis, Limitation of joint mobility, Osteolysis... |
ORPHA:47612 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Hypogonadism, Hypertension, Hypoplasia of the ovary, Obesity |
ORPHA:110 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... |
OMIM:133780 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Small for gestational age, Decreased serum iron, Failure to thrive, Hepatomegaly, Chro... |
OMIM:614602 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Pneumocystosis |
|
Increased circulating antibody level, Interstitial pneumonitis, Chronic oral candidiasis, Acute i... |
ORPHA:723 |
Mccune-Albright Syndrome |
|
Precocious puberty, Cutaneous myxoma, Bone marrow hypocellularity, Hepatocellular adenoma, Fibrou... |
ORPHA:562 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Immunodeficiency 91 And Hyperinflammation |
|
Persistent fever, Elevated hepatic transaminase, Hepatosplenomegaly, Failure to thrive, Elevated ... |
OMIM:619644 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:145260 |
Prolidase Deficiency |
|
Crusting erythematous dermatitis, Increased circulating antibody level, Eczema, Recurrent pneumon... |
OMIM:170100 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Failure to thrive, Hypercalcemia, Polydipsia |
OMIM:239200 |
Premature Aging Syndrome, Penttinen Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Keloids, Failure to thrive, Flexi... |
OMIM:601812 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Growth delay |
OMIM:608800 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Hypothyroidism, Cirrhosis, Abnormality of the liver, Abnormality of iron homeosta... |
ORPHA:231222 |
Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Hypertension, Pheochromocytoma, Elevat... |
OMIM:171400 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Thyroiditis, Eczema, Autoimmune hemolytic anemia, Decreased lymphocyte ... |
OMIM:606367 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia |
OMIM:202110 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... |
OMIM:243300 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Myeloid leukemia, Myelodysplasia, Osteopenia, Mediastinal lymphadenopathy, Bone marrow... |
OMIM:614742 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Wrinkly Skin Syndrome |
|
Short stature, Inguinal hernia, Failure to thrive, Lipodystrophy, High nonceruloplasmin-bound ser... |
ORPHA:2834 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Growth delay, Hepa... |
OMIM:615234 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Impaired collagen-induced platelet aggregation, S... |
OMIM:139090 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Abnormal circulating lipid concentration |
ORPHA:488632 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Lipodystrophy, Multiple lipomas |
ORPHA:2396 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Enlarged kidney, Elevated hepatic transaminase, H... |
OMIM:276700 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level |
OMIM:605115 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Failure to thrive, Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... |
ORPHA:652 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Congenital diap... |
ORPHA:2470 |
Paroxysmal Hemicrania |
|
Diabetes mellitus, Hypertension |
ORPHA:157835 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Fever, Panniculitis, Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Increased circulating IgE level, Atopic dermatitis |
ORPHA:2902 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
Grfoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97261 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... |
ORPHA:556030 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Jaundice, Hypokalemia, Hypertension, Elevated circulating alpha-fetoprotein concentration, Hepato... |
OMIM:613095 |
Alexander Disease |
|
Failure to thrive, Hypothermia, Diabetes mellitus |
ORPHA:58 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Mitral regurgitation, Hypertension |
OMIM:173900 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Hypogonadism, Hypertension, Congestive heart failure, Hepatosplenomegaly, Decreased ... |
ORPHA:85450 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hyperhomocystinemia, Hypertension, Hypomethioninemia, Failure to thrive |
ORPHA:2169 |
Q Fever |
|
Endocarditis, Myocarditis, Maculopapular exanthema, Osteomyelitis, Increased circulating antibody... |
ORPHA:781 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:275350 |
Netherton Syndrome |
|
Decreased circulating antibody level, Skin rash, Eczema, Erythroderma, Increased circulating IgE ... |
ORPHA:634 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... |
OMIM:619991 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Raynaud phenomenon, Elevated hepatic transaminase, Hypertension, Dilated cardiomyopathy, Hepatosp... |
OMIM:615688 |
Parathyroid Carcinoma |
|
Weight loss, Hypophosphatemia, Lipoma, Hypercalcemia, Dysphagia, Chondrocalcinosis, Osteoporosis,... |
ORPHA:143 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:168000 |
Vici Syndrome |
|
Joint stiffness, Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Enamel hypoplasia, Alopecia, Sparse eyebrow, Hepatic fibrosis, Hepa... |
OMIM:607626 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration, Hypertension |
ORPHA:567544 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, ... |
OMIM:229600 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171420 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemi... |
OMIM:219800 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Acute myeloid leukemia, Hyperactivity, Hernia, Retinal dystrophy, Joint hyperm... |
OMIM:617052 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemia, Hyp... |
OMIM:618183 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Type I diabetes mellitus, Hypertension, Polycystic ovaries, Atrioventricular bloc... |
ORPHA:371428 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Splenomegaly, Myelofibrosis |
OMIM:617441 |
Buschke-Ollendorff Syndrome |
|
Atypical scarring of skin, Flexion contracture, Connective tissue nevi, Hypertension |
ORPHA:1306 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:605373 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Cirrhosis, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:614576 |
Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Short stature, Hepatitis, Jaundice, Fever, Hepatomegaly... |
ORPHA:381 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he... |
OMIM:307200 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:99413 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniosynostosis, Skin rash, Eczema, Osteopenia, Joint hyperf... |
ORPHA:2314 |
Mosaic Monosomy X |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:99228 |
Monosomy X |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:99226 |
Turner Syndrome |
|
Biliary cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Increased circulating gonado... |
ORPHA:881 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Short stature, Type II diabetes mellitus, Reduced subcutaneous adipose t... |
ORPHA:3455 |
Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... |
ORPHA:79106 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Hepatom... |
OMIM:251000 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Salt craving, Hypomagnesemia,... |
OMIM:612780 |
Propionic Acidemia |
|
Hyperglycinemia, Short stature, Failure to thrive, Hypoglycemia, Hyperammonemia, Hepatomegaly, Pa... |
OMIM:606054 |
Pituitary Apoplexy |
|
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... |
ORPHA:95613 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Prolonge... |
OMIM:618892 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Optic atrophy, Optic disc pallor, Increased bone mineral density, Hepatomega... |
OMIM:611490 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly, Postnatal growth re... |
ORPHA:699 |
Prader-Willi Syndrome |
|
Primary amenorrhea, Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone st... |
OMIM:176270 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, Primary hyper... |
ORPHA:1332 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
Bloom Syndrome |
|
Small for gestational age, Type II diabetes mellitus, Hepatic steatosis, Elevated hemoglobin A1c,... |
OMIM:210900 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Fever, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, ... |
ORPHA:411634 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Steinert Myotonic Dystrophy |
|
Decreased fertility, Hypercholesterolemia, Hyperinsulinemia, Alopecia, Decreased response to grow... |
ORPHA:273 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Decreased circulating antibody level, Iridocycl... |
ORPHA:227990 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbiliru... |
ORPHA:14 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Pancreatic hypoplasia, Decreased response to growth hormone stimulation ... |
OMIM:602782 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone structure, Abnormal ... |
ORPHA:83451 |
Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... |
ORPHA:449285 |
Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Foot joint contracture, Scarring, Elevated hepatic transaminase, Hypertension,... |
ORPHA:90321 |
Neonatal Marfan Syndrome |
|
Flexion contracture, Heart murmur, Small for gestational age, Mitral regurgitation, Lipoatrophy, ... |
ORPHA:284979 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:221139 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Beta-Thalassemia |
|
Abnormality of temperature regulation, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, ... |
ORPHA:848 |
Immunodeficiency 54 |
|
Splenomegaly, Short stature, Failure to thrive, Hepatomegaly, Intrauterine growth retardation, Po... |
OMIM:609981 |
Helix Syndrome |
|
Heat intolerance, Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
Occipital Horn Syndrome |
|
Keloids, Hepatitis, Hypothermia, Jaundice, Scarring, Inguinal hernia, Cholestasis, Hiatus hernia,... |
ORPHA:198 |
Camurati-Engelmann Disease |
|
Optic nerve compression, Increased bone mineral density, Reduced subcutaneous adipose tissue, Cor... |
OMIM:131300 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Hyperuricemia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancr... |
ORPHA:93111 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated ... |
ORPHA:66634 |
Livedoid Vasculopathy |
|
Abnormal circulating lipid concentration, Ischemic stroke, Atrophic scars, Hyperhomocystinemia, H... |
ORPHA:542643 |
Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets, Hypertension |
OMIM:618913 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Left ventricular hypertrophy, Inguinal hernia, Hypoglycemia, Hy... |
OMIM:220111 |
Chédiak-Higashi Syndrome |
|
Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating ferritin conce... |
ORPHA:167 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Elevated circulating creatinine conce... |
ORPHA:2260 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Small for gestational age, Hypertension, Hypertrophic cardiomyopathy, Failure to... |
OMIM:614052 |
Scorpion Envenomation |
|
Priapism, Glycosuria, Hypokalemia, Elevated circulating aspartate aminotransferase concentration,... |
ORPHA:466677 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Telangiectasia, Punctate vasculitis skin lesions, Rayn... |
ORPHA:247691 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Fever, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Intrahepatic bile duct dilatation, Elevated hepatic transaminase, Hy... |
OMIM:216360 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Lipoatrophy, Telangiectasia of the skin |
ORPHA:276280 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Insulin resistance, Failure to thrive, Severe intrauterine growth reta... |
ORPHA:96182 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Elevated hepatic transaminase, Fever, Elevat... |
ORPHA:829 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Tachycardia |
OMIM:145600 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Hypertension, Gastrointestinal ... |
ORPHA:251992 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Elevate... |
ORPHA:30391 |
Thrombocytopenia 6 |
|
Osteoporosis, Myelofibrosis |
OMIM:616937 |
Pmm2-Cdg |
|
Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Impaired glucose tole... |
ORPHA:96253 |
Visceral Steatosis, Congenital |
|
Jaundice, Hepatic steatosis, Hypoglycemia, Hypocalcemia, Neonatal death |
OMIM:228100 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... |
ORPHA:231632 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Hypokalemia, Portal fibrosis, Fa... |
OMIM:619377 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Decreased circulating antibody level, Iridocycl... |
ORPHA:227982 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Hypertension |
OMIM:618061 |
Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Multiple lipomas, Restrictive cardiomyopathy, Hypothyro... |
ORPHA:758 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Increased blood urea nitrogen, Delayed puberty, Hypercalcemia, Obesity, Abnormal de... |
ORPHA:251004 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Splenomegaly, Unconjugated hyperbilirubinemia, Jaundice, Cholecystitis... |
OMIM:266200 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
Ethylene Glycol Poisoning |
|
Hypothermia, Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Primary Sclerosing Cholangitis |
|
Hepatitis, Thyroiditis, Autoimmunity, Ulcerative colitis, Uveitis, Osteoporosis, Polyclonal eleva... |
ORPHA:171 |
Polymyositis |
|
Weight loss, Elevated circulating creatine kinase concentration, Fever, Hepatomegaly, Chondrocalc... |
ORPHA:732 |
Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Raynaud phenomenon, Mitral regurgitation |
OMIM:301080 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
ORPHA:90362 |
Hepatocellular Carcinoma |
|
Abnormality of the liver, Weight loss, Liver abscess, Hepatic necrosis, Jaundice, Type II diabete... |
ORPHA:88673 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Rhizomelia, Neonatal hypoglycemia, Hepatic steatosis, Growth delay, Intraute... |
OMIM:616271 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Sarcoidosis |
|
Hepatic failure, Weight loss, Hypothermia, Scarring, Fever, Hypercalcemia, Hepatomegaly, Decrease... |
ORPHA:797 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hyperactivity, Obesity, Advanced ossification of carpal bones |
OMIM:614613 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... |
ORPHA:37042 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:616433 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelodysplasia, Arthritis, Pancreatitis, Elevated hepatic transaminase, Generalized lymphadenopat... |
ORPHA:3260 |
Porphyria |
|
Abnormal circulating porphyrin concentration, Dupuytren contracture, Hypertension |
ORPHA:738 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Diffuse hepatic steatosis, Hypertrophic cardiomyopathy, Failure to thrive, Hepatomega... |
ORPHA:436271 |
Alagille Syndrome |
|
Hypertension, Reduced number of intrahepatic bile ducts, Failure to thrive, Delayed puberty, Chol... |
ORPHA:52 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Prostatitis, Thyroiditis, Pancreatitis, Cholangitis, Sinusitis,... |
ORPHA:449563 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgA level, Osteopetro... |
OMIM:612301 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Malar rash, Abnormality of the knee, Oligoarthritis, Generalized morning st... |
ORPHA:85436 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Increased circulating very... |
OMIM:614887 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Increased bone mineral density, Osteolysis, Osteopenia, Pat... |
ORPHA:77259 |
Castleman Disease |
|
Weight loss, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Lymphadenopathy, Follicular hy... |
ORPHA:160 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Intermittent claudication, Angin... |
OMIM:264800 |
D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent... |
OMIM:261515 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Stiff neck, Autoimmunity |
ORPHA:83600 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620040 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Hypersplenism, Hypertension, Epistaxis, Mitral regurgitation, He... |
OMIM:230800 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Cardiomy... |
ORPHA:445038 |
Riddle Syndrome |
|
Decreased circulating total IgM, Arthritis, Recurrent sinusitis, Chronic sinusitis, Recurrent pne... |
ORPHA:420741 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia |
OMIM:610644 |
Renal Hypoplasia |
|
Small for gestational age, Polydipsia |
ORPHA:93101 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Chronic oral candidiasis, Skin rash, Arthritis, Increased circulating IgD level, S... |
OMIM:260920 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Left ventricular hypertrophy, Hepatosplenomegaly |
ORPHA:31150 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia, Hypertension, Decreased circulating aldosterone l... |
OMIM:618114 |
Fabry Disease |
|
Transient ischemic attack, Congestive heart failure, Angina pectoris, Hypertension, Myocardial in... |
OMIM:301500 |
Aspergillosis |
|
Osteomyelitis, Bronchiectasis, Hepatitis, Sinusitis, Keratitis, Infectious encephalitis, Pneumoni... |
ORPHA:1163 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, Chronic oral candidiasis, Eczema, Recurrent otitis media, Auto... |
OMIM:615607 |
Nelson Syndrome |
|
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... |
ORPHA:199244 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Inguinal hernia, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly, Umbilical hernia |
OMIM:252900 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Flexion contracture, Temperature instability |
ORPHA:99027 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Periportal fibrosis, Hypertension, Hepatomegal... |
OMIM:263200 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Steatorrhea, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Spleno... |
OMIM:612714 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Glycosuria, Hyperkalemia, Hypertension, Failure to thrive, Hyponatremia |
ORPHA:97362 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Glycosuria, Hypokalemia, Failure to thrive, Bicarbonaturia, Polydipsia... |
ORPHA:47159 |
Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Fever, Hepatomega... |
ORPHA:131 |
Alström Syndrome |
|
Elevated hepatic transaminase, Dorsocervical fat pad, Hepatic steatosis, Hepatosplenomegaly, Olig... |
ORPHA:64 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Jaundice, Hepatocell... |
ORPHA:231214 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Hypokalemia, Rickets, Failure to thrive, Polydipsia, Reduced bone mineral density |
ORPHA:18 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Hutchinson-Gilford Progeria Syndrome |
|
Left ventricular diastolic dysfunction, Pubertal developmental failure in females, Angina pectori... |
ORPHA:740 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia |
OMIM:605479 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Increased circulating IgE level |
OMIM:602450 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:615895 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Enlarged pituitary gland, Ventricular arrhythmia, Supraventricular arrhythmia, Euthy... |
ORPHA:91347 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Small for gestational age, Hypertension |
OMIM:613320 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hepatic failure, Hypertension, Umbilical hernia |
OMIM:619758 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Lipoma, Hypercalcemia, Dysphagia, Chondrocalcinosis, Osteoporosis, Polydipsia |
ORPHA:99880 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Pancreatic apla... |
ORPHA:556955 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Cholestasis, Cholestatic liver disease |
OMIM:610205 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, Decreased circulating total IgM, Allergic rhinitis, Ulnar deviation of ... |
OMIM:618162 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperactivity, Large for gestational age, Myelofibrosis, Hemangioma, Joint laxity, Inguinal herni... |
OMIM:607721 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia,... |
OMIM:619471 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia... |
OMIM:602522 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... |
OMIM:608779 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Hyperuricemia, Impaired glucose tolerance, Glycosuria, Reduced sperm motil... |
OMIM:137920 |
Frasier Syndrome |
|
Decreased serum estradiol, Hypertension, Increased circulating gonadotropin level, Hypergonadotro... |
ORPHA:347 |
Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism, Low anterior hairline, Hypercholesterolemia |
OMIM:249310 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... |
ORPHA:48435 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614495 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage, Hypertension |
ORPHA:231160 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperkalemia, Hyperte... |
OMIM:614492 |
Barber-Say Syndrome |
|
Lipodystrophy |
OMIM:209885 |
Lead Poisoning |
|
Small for gestational age, Decreased circulating osteocalcin level, Hypertension, Delayed puberty... |
ORPHA:330015 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertension associated with pheochromocytoma, Parathyroid adenoma, Reduced subcutaneous adipose ... |
ORPHA:653 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Capillary fragility, Atypical pulmonary carcinoid tumor, Ad... |
ORPHA:99889 |
Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Stiff neck, Erythema nodosum, Morbilliform rash, Epididymitis, Acute pancreatitis... |
ORPHA:99827 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxi... |
ORPHA:79102 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism, Squamous cell carcinoma of the tongue, Osteopenia, Bone marrow hypocellularity |
OMIM:618849 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Hypertension |
OMIM:184850 |
Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Hyponatremia |
ORPHA:95513 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension, Hypoglycemia |
ORPHA:95619 |
Mucopolysaccharidosis, Type Iiic |
|
Hernia, Synophrys, Hypertrichosis, Hirsutism, Hepatomegaly, Coarse hair, Splenomegaly |
OMIM:252930 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Sparse bone trabeculae, Secondary hyper... |
OMIM:264700 |
Alagille Syndrome 1 |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb... |
OMIM:118450 |
Say-Barber-Miller Syndrome |
|
Knee flexion contracture, Ankle clonus, Decreased circulating IgG level, Patellar hypoplasia, Dec... |
ORPHA:3132 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... |
OMIM:261740 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Sparse bone trabeculae, Secondary hyper... |
OMIM:277440 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Hypertension, Decreased circulating aldosterone l... |
OMIM:177200 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage |
OMIM:263400 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,... |
OMIM:615356 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia, Polydipsia |
OMIM:248250 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Primary hyperald... |
OMIM:615474 |
Secondary Non-Traumatic Avascular Necrosis |
|
Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility, Rheumatoid arthritis |
ORPHA:399180 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Glutaric Acidemia I |
|
Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration, Hepatomegaly |
OMIM:231670 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension |
OMIM:614496 |
Neuroendocrine Tumor Of The Colon |
|
Hypotension, Facial telangiectasia, Tricuspid regurgitation, Right ventricular failure, Palpitati... |
ORPHA:100080 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Failure to thrive, Hypoph... |
OMIM:241530 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Failure to thrive, Attention deficit hyperactivity disord... |
OMIM:619151 |
Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension |
ORPHA:279947 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... |
OMIM:187900 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
OMIM:617600 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral regurgitati... |
ORPHA:99147 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300967 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Short stature, Small for gestational age, Reduced subcutaneous adipose tissu... |
OMIM:264090 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Malformati... |
ORPHA:84081 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Increased intramyocellular lipid droplets, Hypertrophic cardiomyopathy, Failure to th... |
OMIM:220110 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Hypertension, Umbilical hernia, Cryptorchidism |
ORPHA:1555 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Thyroid lymphangiectasia, Hypertrichosis, Pancreatic lymphangiectasis, Inguinal ... |
OMIM:235255 |
Oculoskeletodental Syndrome |
|
Short stature, Small for gestational age, Elbow flexion contracture, Hypercalcemia, Hepatomegaly,... |
OMIM:618440 |
Dengue Fever |
|
Ascites, Hypoproteinemia, Fever, Hepatomegaly |
ORPHA:99828 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
Cutaneous Mastocytoma |
|
Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Short sta... |
OMIM:611881 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss, Hepatitis, Hypertension, Hepatic steatosis, Hypertrophic cardiomyopa... |
OMIM:615846 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Failure to thrive, Unexplained fevers, Abnormal eating behavior, Abnormal drinking... |
ORPHA:209905 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Arterial Tortuosity Syndrome |
|
Flexion contracture, Ischemic stroke, Hypertension, Aortic regurgitation, Telangiectases of the c... |
OMIM:208050 |
Waldenström Macroglobulinemia |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:33226 |
Thalidomide Embryopathy |
|
Insulin resistance, Short stature |
ORPHA:3312 |
Monosomy 18P |
|
Hypothyroidism, Hypertension |
ORPHA:1598 |
Juvenile Paget Disease |
|
Hyperuricemia, Hypertension |
ORPHA:2801 |
Classic Homocystinuria |
|
Pulmonary embolism, Hernia, Cerebral ischemia, Elevated hepatic transaminase, Intracranial hemorr... |
ORPHA:394 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Heart murmur, Hypertension, Elevated circulating creatine kinase concentration, Abnormal left ven... |
ORPHA:437572 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight, Osteopenia |
OMIM:608747 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Weight loss, Neoplasm of the liver, Elevated hepatic transaminase, Elevate... |
ORPHA:100085 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Enamel hypoplasia, Increased susceptibility to fractures, Osteomalacia, Sparse ... |
ORPHA:289157 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Hernia, Apl... |
ORPHA:2255 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Increased pulmonary vascular resis... |
OMIM:178600 |
Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Decreased response to growth hormone s... |
ORPHA:79443 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... |
OMIM:241080 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Ascites, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Birk-Landau-Perez Syndrome |
|
Increased circulating creatine kinase MB isoform, Failure to thrive in infancy, Hypertension, Hyp... |
OMIM:617595 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... |
ORPHA:542323 |
Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hematochezia... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Facial telangiectasia, Melena, Right ventricular failure, Palpitations, Hematochezia... |
ORPHA:100082 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Inguinal hernia, Hyperactivity |
OMIM:223370 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Eczema, Recurrent sinusiti... |
OMIM:301000 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
Mogs-Cdg |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating tota... |
ORPHA:79330 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Myeloproliferative disor... |
ORPHA:3226 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Hypocalcemia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Inguinal hernia, ... |
ORPHA:1655 |
Hurler Syndrome |
|
Camptodactyly of finger, Hernia, Hypertension, Angina pectoris, Hepatomegaly, Splenomegaly, Cardi... |
ORPHA:93473 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Diabetes insipidus, Hyperaldosteronism, Sparse scalp hair, Abnormal calcium... |
ORPHA:534 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Hypothyroidism, Transient hyperphenylalaninemia, Hypertension |
ORPHA:98808 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Decreased lympho... |
OMIM:619381 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Pulmonary insufficiency, Hypertension, Hyperkalemia |
OMIM:602088 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Hypertension |
OMIM:617763 |
Cirrhotic Cardiomyopathy |
|
Cirrhosis, Abnormal circulating A-type atrial natriuretic peptide concentration, Jaundice, Left v... |
ORPHA:57777 |
Caroli Syndrome |
|
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Hyperbil... |
ORPHA:480520 |
Hydroxykynureninuria |
|
Hypotension, Tachycardia |
ORPHA:79155 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Weight loss, Jaundice, Splenic cyst, Elevated he... |
ORPHA:400 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Curly hair, Decreased response to growth hormone stimulation test, Synophrys, Lon... |
ORPHA:444077 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis, Hypertension |
OMIM:613159 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Transient ischemic attack, Congestive heart failure, Hypertension, Hypertrophic card... |
ORPHA:183 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to human chorionic gonadotrophin stimulation test, Flexion contracture, Decreas... |
ORPHA:95699 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Rheumatoid factor positive, Anti-citrullinated protein antibody positivity,... |
OMIM:180300 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Small for gestational age, Hyperbilirubinemia, Mild postnatal growth retardation, Hepatomegaly, P... |
OMIM:224120 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Fever, Hepatomegaly |
ORPHA:99978 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Obesity |
ORPHA:369837 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Abnormal liver lobulation, Enlarged kidney |
OMIM:608022 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Isolated Complex I Deficiency |
|
Failure to thrive, Hypoglycemia, Diabetes mellitus, Increased serum pyruvate, Hepatomegaly, Intra... |
ORPHA:2609 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Flexion contracture, Congestive heart failure, Hypertensive cris... |
ORPHA:220393 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Conjugated hyperbilirubinemi... |
OMIM:619534 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Elevated circulating thyroid-stimulating hormone concentration, ... |
OMIM:242900 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability |
OMIM:608643 |
17Q12 Microdeletion Syndrome |
|
Diabetes mellitus, Pancreatic aplasia, Elevated hepatic transaminase, Cryptorchidism |
ORPHA:261265 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
Caudal Regression Syndrome |
|
Maternal diabetes, Hypertension, Cryptorchidism |
ORPHA:3027 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hypothyroidism, Hyperthyroidism, Hypertension |
ORPHA:449291 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Decreased LDL choles... |
ORPHA:404454 |
Argininemia |
|
Portal fibrosis, Hyperammonemia, Micronodular cirrhosis, Hyperargininemia, Cholestasis, Hepatomeg... |
OMIM:207800 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Increased circulating NT-proBNP concentration... |
OMIM:232300 |
Hereditary Fructose Intolerance |
|
Hyperuricemia, Jaundice, Hypophosphatemia, Chronic hepatic failure, Hypermagnesemia, Reactive hyp... |
ORPHA:469 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypert... |
ORPHA:91387 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
Galloway-Mowat Syndrome 3 |
|
Camptodactyly, Hypertension, Failure to thrive, Hiatus hernia, Hypoalbuminemia |
OMIM:617729 |
Wolfram Syndrome |
|
Diabetes mellitus, Polydipsia |
ORPHA:3463 |
Cockayne Syndrome A |
|
Thymic hormone decreased, Enamel hypoplasia, Hip contracture, Hypogonadism, Reduced subcutaneous ... |
OMIM:216400 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Citrullinemia, Classic |
|
Cirrhosis, Episodic ammonia intoxication, Failure to thrive, Hyperammonemia, Hypoargininemia, Hep... |
OMIM:215700 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Hypertension, Polycystic liver disease, Pituitary growth hormone cell adenoma, ... |
ORPHA:730 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Myocardial infarc... |
ORPHA:3342 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Myocarditis, Pericarditis, Arrhythmia |
ORPHA:188 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Hyperphosphatemia, Decreased body weight, Elevated hepatic transaminase, Intracrania... |
ORPHA:340 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Diabetes mellitus, Shock |
ORPHA:36238 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Fever, Hepatomegaly |
OMIM:229700 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1 |
OMIM:300953 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Panuveitis, Scleritis, Increased circulating antibody level, Skin r... |
ORPHA:91500 |
Transketolase Deficiency |
|
Proportionate short stature, Elevated circulating ribitol concentration, Type I diabetes mellitus... |
ORPHA:488618 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Small for gestational age, Hypokalemia, Hypertension, Increased circulating r... |
ORPHA:89938 |
Hereditary Spherocytosis |
|
Jaundice, Hyperbilirubinemia, Fever, Growth delay, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... |
OMIM:600309 |
Cockayne Syndrome B |
|
Small for gestational age, Reduced subcutaneous adipose tissue, Hypertension, Failure to thrive, ... |
OMIM:133540 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171300 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... |
OMIM:619525 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:266900 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Hypertension, Weight loss |
OMIM:256700 |
Bronchial Neuroendocrine Tumor |
|
Hypotension, Facial telangiectasia, Cardiogenic shock, Right ventricular failure, Palpitations, T... |
ORPHA:97287 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Elevated circulating cate... |
ORPHA:892 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Myeloid leukemia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Hepatitis, Raynaud phenome... |
ORPHA:1855 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, Corneal scarring, Hypertension, Bradycardia, Tachycardia |
OMIM:614653 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Enamel hypoplasia, Hypercholesterolemia, Elevated maternal serum alpha-f... |
OMIM:309000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Short stature, Azotemia, Hepatic steatosis, Abdominal obesity, Intrauterine ... |
OMIM:619321 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Hepatitis, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Ch... |
OMIM:194380 |
Rett Syndrome |
|
Failure to thrive, Cholecystitis, Increased serum leptin, Agitation |
ORPHA:778 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
Ataxia-Telangiectasia |
|
Bronchiectasis, Decreased circulating IgG2 level, Defective B cell differentiation, Decreased cir... |
OMIM:208900 |
Mercury Poisoning |
|
Hypotension, Tachycardia, Hypertension |
ORPHA:330021 |
Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension |
ORPHA:178478 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Large vessel vasculitis, Hypertension, Increased blood urea nitrogen, Hashimoto thyr... |
ORPHA:49041 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Fasciitis, Hypothermia, Growth delay, Unexplained fevers, Atypical scarring of ... |
ORPHA:642 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Hypertension, Pheochromocytoma, Hepatic hemangioma |
OMIM:193300 |
Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Rod-cone dystrophy, Bone marrow hypocellularity, Joint hypermobility |
OMIM:614378 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Short stature, Left ventricular hypertrophy, Delayed pu... |
ORPHA:324 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
Mgat2-Cdg |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
ORPHA:79329 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Inguinal hernia, Shortened PR interval, Obesity |
OMIM:614947 |
Serotonin Syndrome |
|
Hypotension, Tachycardia, Hepatic failure, Hypertension |
ORPHA:43116 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:98827 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Hypogonadism, Myelodysplasia, Abnormal trabecular bone morphology, Small for gest... |
ORPHA:221008 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Failure to thrive, Bone marrow hypocellularity, T-cell acute lymphoblasti... |
OMIM:605724 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
Sickle Cell Disease |
|
Splenic infarction, Jaundice, Hypertension, Hepatomegaly, Cholelithiasis, Splenomegaly |
OMIM:603903 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Bon... |
ORPHA:210136 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Ascites, Ompha... |
OMIM:200995 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Weight loss, Short stature, Unconjugated hyperbilirubinemia, Hyperbili... |
OMIM:613673 |
Carney Complex |
|
Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol... |
ORPHA:1359 |
Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Flexion contracture, Keratoconjunctivitis sicca, Decreased circulating IgG level |
OMIM:601675 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia, Decreased serum iron, Short stature, Uterine prolapse |
ORPHA:438213 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Heart murmur, Angina pectoris, Hypertension, Hepatic steatosis, Supravalvul... |
ORPHA:391665 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Epiphyseal stippling, Failure to thrive, Hypocholesterolemia, Elevated 7-dehydroch... |
OMIM:270400 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Cerebral ischemia, Weight loss, Angina pectoris, Hypertension, Pericarditis, ... |
ORPHA:900 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Decreased circulating complement C3 concentration, Decreased circul... |
ORPHA:289390 |
Porphyria, Acute Intermittent |
|
Tachycardia, Hepatocellular carcinoma, Hypertension |
OMIM:176000 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Abnormality of the pancreas, Ab... |
OMIM:222470 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Small for gestational age, Hyperbilirubinemia, Elevated hepatic transaminase, Ty... |
OMIM:557000 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Lymphoma, Acute myeloid leukemia, Bone marrow hypocellularity, Myelodysplasia |
OMIM:616871 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Increased total iron binding capacity, Hyperglycinemia, Jaundice, Abnor... |
ORPHA:309854 |
Cockayne Syndrome |
|
Retinal hemorrhage, Enamel hypoplasia, Contractures of the large joints, Hyperuricemia, Reduced s... |
ORPHA:191 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:185000 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Pancreatic cysts, Hepatic fibrosis, Hypertension, Cholangitis, Hepatosplenomegaly, Failure to thr... |
OMIM:266920 |
Neuroendocrine Tumor Of Stomach |
|
Hypotension, Facial telangiectasia, Cardiogenic shock, Melena, Right ventricular failure, Palpita... |
ORPHA:100075 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Familial Hypoaldosteronism |
|
Hypotension, Orthostatic hypotension, Hypovolemia |
ORPHA:427 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hepatocellular necrosis, Unconjugated hyperbilirubinemia, Hepat... |
OMIM:618278 |
Syndromic Diarrhea |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, ... |
ORPHA:84064 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Joint hypermobility, Decreased circulating IgA level, Decre... |
OMIM:617062 |
Cranioectodermal Dysplasia 2 |
|
Biliary cirrhosis, Polysplenia, Hyperbilirubinemia, Elevated hepatic transaminase, Hypertension, ... |
OMIM:613610 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Splenomegaly, Hepatomegaly |
OMIM:603554 |
Immunodeficiency 31C |
|
Weight loss, Short stature, Diabetes mellitus, Delayed puberty, Fever, Growth delay, Hepatomegaly... |
OMIM:614162 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Osteopenia,... |
OMIM:271510 |
Relapsing Fever |
|
Hypotension, Epistaxis, Tachycardia |
ORPHA:91547 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpit... |
ORPHA:100077 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Hypertension, Ovarian gonadoblastoma, Posterolateral diaphragmat... |
OMIM:194080 |
Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Sparse bone trabeculae, Rickets,... |
OMIM:300009 |
Dyskeratosis Congenita |
|
Lymphoma, Splenomegaly, Cirrhosis, Hepatic failure, Recurrent fractures, Neoplasm of the pancreas... |
ORPHA:1775 |
Scrub Typhus |
|
Hypotension, Myocarditis |
ORPHA:83317 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hypoamylasemia, Hyp... |
ORPHA:811 |
Joubert Syndrome 14 |
|
Hypertension, Intracranial hemorrhage |
OMIM:614424 |
Argininosuccinic Aciduria |
|
Hepatic fibrosis, Episodic ammonia intoxication, Elevated circulating aspartate aminotransferase ... |
OMIM:207900 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... |
ORPHA:2299 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:616689 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Diabetes insipidus, Elevated circulating alanine aminotransferase concentrati... |
OMIM:618500 |
Rothmund-Thomson Syndrome |
|
Increased susceptibility to fractures, Myelodysplasia, Abnormal trabecular bone morphology, Small... |
ORPHA:2909 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis |
ORPHA:31824 |
Familial Dysautonomia |
|
Hypertension, Abnormality of the peritoneum, Hyponatremia, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Recurrent fractures, Ectopic ossification, Epiphys... |
OMIM:215140 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Hepatic fibrosis, Osteoporosis, Bone marrow hypocellularity |
OMIM:613989 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Hepatomegaly, Refractory ane... |
ORPHA:75564 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Hepatomegaly, Cryptorchidism, C... |
ORPHA:96191 |
Acute Erythroid Leukemia |
|
Refractory anemia with ringed sideroblasts, Bone marrow hypocellularity |
ORPHA:318 |
Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Myelodysplasia |
OMIM:614675 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Hypertension |
OMIM:219250 |
Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis, Stiff neck, Iridocyclitis |
ORPHA:1560 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, Jo... |
OMIM:201750 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy |
OMIM:208000 |
Hunter-Macdonald Syndrome |
|
Joint contracture of the hand, Camptodactyly, Hypertension, Aortic regurgitation, Inguinal hernia... |
OMIM:611962 |
Rothmund-Thomson Syndrome Type 2 |
|
Lymphoma, Myelodysplasia, Abnormal trabecular bone morphology, Small for gestational age, Squamou... |
ORPHA:221016 |
Mevalonic Aciduria |
|
Skin rash, Morbilliform rash, Increased circulating IgD level |
OMIM:610377 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct... |
OMIM:601346 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Short stature, Minimal subcutaneous fat, Enlarged kidney, Jaund... |
OMIM:300855 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Cirrhosis, Microvesicular hepatic steatosis, Flexion contracture, Hip c... |
OMIM:300868 |
Legionnaires Disease |
|
Hypotension, Myocarditis, Pericarditis, Arrhythmia |
ORPHA:549 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension |
OMIM:612926 |
Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Pancreatic endocrine tumor, Parathyroid hyperplasia, Pituitary adenoma, Hype... |
ORPHA:805 |
Arima Syndrome |
|
Hepatic fibrosis, Cirrhosis, Hypertension, Hepatic steatosis, Hepatomegaly |
OMIM:243910 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:86841 |
Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Congestive heart failure, Diabetes mellitus, Elevated hepatic iron c... |
ORPHA:48818 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Portal hypertension, Gastrointestinal hemorrhage |
ORPHA:98850 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hypertension, Hypertensive crisis, Diabetes mellitus, Hyponatremia, Hypocalcemia, M... |
ORPHA:544482 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension |
OMIM:612924 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ... |
ORPHA:100026 |
Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Enlarged kidne... |
ORPHA:116 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Myelodysplasia |
OMIM:619041 |
Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage |
ORPHA:79456 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Micro... |
OMIM:203700 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Squamous cell carcinoma of the skin, Myelodysplasia, Hepatic necrosis, Bone marrow hyp... |
OMIM:127550 |
Carney Triad |
|
Hypertension, Pheochromocytoma, Arrhythmia, Gastrointestinal hemorrhage, Paraganglioma, Adrenal o... |
ORPHA:139411 |
Refractory Anemia |
|
Single lineage myelodysplasia, Bone marrow hypocellularity, Myelodysplasia |
ORPHA:98826 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Increased bone mineral density, Osteolysis, Increased susce... |
ORPHA:77261 |
Myasthenia Gravis |
|
Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hepatitis, Anti-acetylcholin... |
ORPHA:589 |
Cholera |
|
Hypotension, Hypoglycemia, Hypovolemic shock, Tachycardia |
ORPHA:173 |
Myhre Syndrome |
|
Precocious puberty, Hypogonadism, Hypertension, Inguinal hernia, Femoral hernia |
ORPHA:2588 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypertension |
OMIM:612925 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creati... |
OMIM:223900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Optic atrophy, Exudative retinopathy, Retinal telangiectas... |
OMIM:612199 |
Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimulation test, Fus... |
OMIM:609053 |
Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Iridocyclitis, Increased circulating antibody level, Arthritis, Abnormality of T ... |
OMIM:181000 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Hypertrophic cardiomyopathy, Hypoglycemic seizures, Ketotic hypoglycemia |
ORPHA:361 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Orthostatic hypotension, Hypoglycemia, Type I diabetes mellitus |
ORPHA:199299 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Abnormal liver lobulation, Cryptorchidism |
ORPHA:99776 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Hypertension, Myocardial infarction, Hyponatremia, ... |
ORPHA:90038 |
Acute Intermittent Porphyria |
|
Tachycardia, Hepatocellular carcinoma, Hypertension, Hyponatremia |
ORPHA:79276 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Decreased body weight, Hypertension, Premature ventricular contr... |
OMIM:602535 |
Wagro Syndrome |
|
Obesity, Hypertension |
OMIM:612469 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
Mastocytosis |
|
Hypotension, Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:98292 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Vici Syndrome |
|
Decreased T cell activation, Decreased circulating IgG2 level, Chronic mucocutaneous candidiasis,... |
OMIM:242840 |
Viss Syndrome |
|
Genu valgum, Generalized joint laxity, Hip dislocation, Eczema, Joint laxity, Increased circulati... |
OMIM:619472 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Porphyria, Congenital Erythropoietic |
|
Alopecia, Joint contracture of the hand, Corneal scarring, Jaundice, Hypertrichosis, Absent eyebr... |
OMIM:263700 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Osteoporosis, Bone marrow hypocellularity |
OMIM:224230 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Bone marrow hypocellularity |
OMIM:616435 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Enamel hypoplasia, Hepatic fibrosis, Hypertension, Hepatic cysts, Ovarian cyst |
OMIM:311200 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Delayed cranial suture closure, Decreased circulating total IgM, Decreased circulating IgA level,... |
OMIM:620005 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Intraalveolar phospholipid accumulation, Short stature, Failure to thrive, Increase... |
OMIM:222700 |
Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Arrhythmia, Right ventricular failure, Palpitations, Tricuspid st... |
ORPHA:100076 |
Poliomyelitis |
|
Hypotension, Hypovolemic shock, Hypertension |
ORPHA:2912 |
Scalp-Ear-Nipple Syndrome |
|
Multiple lipomas, Supraventricular tachycardia, Hypertension, Breast aplasia, Congestive heart fa... |
OMIM:181270 |
Mucopolysaccharidosis Type 2 |
|
Flexion contracture of digit, Contractures of the large joints, Hypertension, Inguinal hernia, He... |
ORPHA:580 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimmunity, Recurrent sinusitis, Recurrent... |
OMIM:607944 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
Alveolar Echinococcosis |
|
Increased circulating antibody level, Cutaneous abscess, Cholangitis |
ORPHA:284 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Delayed puberty, Hypertension |
OMIM:208060 |
Gaucher Disease |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Increased circulating antibody level, Incr... |
ORPHA:355 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Abnormal abdo... |
OMIM:619475 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
ORPHA:1435 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Abnormality of the pancreas, Hypertension, Exocrine pancreatic insufficiency, A... |
ORPHA:2750 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Heart murmur, Hypertension, Hepatosplenomegaly, Ing... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Heart murmur, Hypertension, Hepatosplenomegaly, Ing... |
ORPHA:217093 |
Al Amyloidosis |
|
Increased circulating antibody level |
ORPHA:85443 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Exudative retinopathy, Osteoporosis, Bone marrow hypocellularity |
OMIM:613990 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Trichinellosis |
|
Conjunctivitis, Skin rash, Increased circulating IgE level |
ORPHA:863 |
Paragangliomas 4 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Chemodectoma, Paraganglioma ... |
OMIM:115310 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Inguinal hernia, Parat... |
OMIM:188400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Hepatomegaly, Cellulitis |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Hepatomegaly, Cellulitis |
OMIM:233710 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Cryptorchidism |
OMIM:613834 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Bone marrow hypocellularity, Umbilical hernia |
OMIM:614520 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypotension, Elevated circulating creatinine concentration, Hyperuricemia, Hypertension |
OMIM:174000 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Breast aplasia, Hypertension |
ORPHA:2036 |
Apert Syndrome |
|
Hypertension, Ovarian neoplasm |
ORPHA:87 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia, Small for gestational age, Hypertension |
OMIM:234100 |
Somatomammotropinoma |
|
Increased circulating prolactin concentration, Anterior hypopituitarism, Pituitary adenoma, Hyper... |
ORPHA:314769 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hypertension, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
Williams-Beuren Syndrome |
|
Hypothyroidism, Flexion contracture, Early onset of sexual maturation, Glucose intolerance, Hyper... |
OMIM:194050 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Pulmonary embolism, Glycosuria, Unconjugated hyperbilirubinemia, Jaund... |
ORPHA:447 |
Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Hypertension, Flexion contracture of toe |
OMIM:186580 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Hepatomegaly, Cellulitis |
OMIM:233690 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal retinal morphology, Recurrent fractures, Optic atrophy, Retinal atrophy, Secondary hyper... |
ORPHA:2785 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Acute Adrenal Insufficiency |
|
Hypotension, Hypovolemia, Myocardial infarction, Hypoglycemia, Orthostatic hypotension |
ORPHA:95409 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Retinal hemorrhage, Single lineage myelodysplasia, Bone marrow hypocellul... |
ORPHA:86839 |
Aplastic Anemia |
|
Bone marrow hypocellularity |
OMIM:609135 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Shock, Capillary leak, Myocarditis, Tachycardia |
ORPHA:36234 |
Williams Syndrome |
|
Sudden cardiac death, Hypothyroidism, Abnormal circulating lipid concentration, Precocious pubert... |
ORPHA:904 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:120330 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Keratoconjunctivitis sicca, Autoimmunity, Eczema... |
ORPHA:79128 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis, Bone marrow hypocellularity |
OMIM:613987 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 |
|
Bone marrow hypocellularity |
OMIM:618674 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Telangiectasia, Abnormality of the liver, Hypogonadism, ... |
ORPHA:1606 |
Neurofibromatosis Type 1 |
|
Multiple lipomas, Precocious puberty, Hypertension, Pheochromocytoma, Delayed puberty, Abnormalit... |
ORPHA:636 |
Hennekam-Beemer Syndrome |
|
Hypotension, Telangiectasia of the skin, Arrhythmia |
ORPHA:2135 |
22Q11.2 Deletion Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Corneal neovascularization, Hypertensi... |
ORPHA:567 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypothyroidism, Hypertension |
ORPHA:93256 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Neonatal hypoglycemia |
ORPHA:90791 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Acromegaly |
|
Anterior hypopituitarism, Hypertension, Hypertrophic cardiomyopathy, Diabetes mellitus, Mitral re... |
ORPHA:963 |
Lujo Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Myocarditis, Bradycardia |
ORPHA:319213 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Hip contracture, Ischemic strok... |
OMIM:619503 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steat... |
OMIM:613471 |
Myhre Syndrome |
|
Small for gestational age, Camptodactyly, Hypertension, Aortic valve stenosis, Obesity |
OMIM:139210 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Coarse hair, Inguinal hernia, Contracture of the dist... |
ORPHA:83617 |
Au-Kline Syndrome |
|
Failure to thrive, Hypertension |
OMIM:616580 |
Sepsis In Premature Infants |
|
Hypotension, Bradycardia, Tachycardia |
ORPHA:90051 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypertension, Congestive heart failure |
ORPHA:1457 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia, Hypertension |
OMIM:104200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Elbow flexion contracture, Hyperb... |
OMIM:210710 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Syncope, Tachycardia |
ORPHA:98849 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Cirrhosis, Optic atrophy, Oropharyngeal squamous cell carcinoma, Myelodys... |
OMIM:305000 |
Hereditary Xanthinuria |
|
Gout, Arthropathy, Rheumatoid arthritis |
ORPHA:3467 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Congestive heart failure, Arrhythmia |
ORPHA:428 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Myelodysplasia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Cystic Fibrosis |
|
Cirrhosis, Biliary cirrhosis, Steatorrhea, Hepatosplenomegaly, Male infertility, Hepatomegaly, Ex... |
OMIM:219700 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Small for gestational age, Hypergonadotropic hypogonadism, Bone marrow hypoc... |
OMIM:227645 |
Blau Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Abnormality of the liver, Large vessel ... |
ORPHA:90340 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic valve stenosis, Hypertension, Heart murmur |
ORPHA:402075 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia, Hypertension |
ORPHA:2769 |
Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Internal hemorrhage |
ORPHA:244242 |
Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
Addison Disease |
|
Hypotension, Orthostatic hypotension, Hypoglycemia, Type I diabetes mellitus |
ORPHA:85138 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Pancreatic calcification, Transient ischemic... |
ORPHA:51608 |
Alport Syndrome |
|
Hypertension |
ORPHA:63 |
Hoyeraal-Hreidarsson Syndrome |
|
Failure to thrive, Neoplasm, Bone marrow hypocellularity |
ORPHA:3322 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Recurrent hypoglycemia |
ORPHA:293978 |
Alkaptonuria |
|
Myocardial infarction, Hypertension |
ORPHA:56 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Decreased circulating copper conc... |
ORPHA:139417 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Squamous cell carcinoma of the tongue |
OMIM:613988 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Bone marrow hypocellularity, Panniculitis, Myelodysplasia |
ORPHA:508542 |
Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Palpitations, Heart murmur, Tricuspid stenosis |
ORPHA:100079 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Vaginitis, Nail dystrophy, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, ST segment depression, ... |
ORPHA:466650 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Failure to thrive, Bone marrow hypocellularity |
OMIM:616353 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Hypovolemia, Neonatal hypoglycemia |
ORPHA:168558 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Neurofibromatosis, Type I |
|
Hypertension, Parathyroid adenoma, Pheochromocytoma |
OMIM:162200 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Hypovolemia, Neonatal hypoglycemia |
ORPHA:289548 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Supernumerary nipple, Hypertension, Aortic valve stenosis, Pulmo... |
OMIM:100300 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Attention deficit hyperactivity disorder, Hypergonadotropic hypogonadi... |
OMIM:227646 |
17Q11 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Glomus jugular tumor, Precocious puberty, Hypertension, Pheochro... |
ORPHA:97685 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Bone marrow hypocellularity |
ORPHA:88 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Neonatal hyperbilirubinemia, Hypertension |
OMIM:300896 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Severe failure to thrive, Renovascular hypertensio... |
ORPHA:3472 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Congenital hip dislocation, Vertebral fusion, Increased circulating IgE ... |
ORPHA:373 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Corneal neovascularization, Inguinal hernia, Cryptorchidism, Omphalocele, Umbilical... |
OMIM:308205 |
Pierson Syndrome |
|
Retinal hemorrhage, Hypoproteinemia, Hypertension |
OMIM:609049 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Joint hypermobility, Hyperextensible hand joints, Secretory IgA defici... |
ORPHA:500150 |
Acute Liver Failure |
|
Hypotension, Intracranial hemorrhage, Shock, Hypoglycemia, Gastrointestinal hemorrhage |
ORPHA:90062 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Subconjunctival ... |
ORPHA:509 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Vascular Ehlers-Danlos Syndrome |
|
Transient ischemic attack, Hypertension, Internal hemorrhage, Inguinal hernia, Cigarette-paper sc... |
ORPHA:286 |
Non-Acquired Panhypopituitarism |
|
Hypotension, Hypoglycemia |
ORPHA:90695 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Shock, Neonatal hypoglycemia, Hypovolemia |
ORPHA:90794 |
Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
Keutel Syndrome |
|
Pulmonic stenosis, Hypertension |
OMIM:245150 |
Plague |
|
Hypotension, Tachycardia, Hematemesis, Arrhythmia |
ORPHA:707 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Hypoglycemia |
ORPHA:95494 |
Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |