| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... |
OMIM:612526 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, 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, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertension, Lipodys... |
OMIM:613877 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... |
OMIM:608600 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... |
ORPHA:79084 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, H... |
ORPHA:79085 |
| Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... |
ORPHA:435651 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... |
ORPHA:435660 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... |
ORPHA:71529 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Obesity, I... |
OMIM:615703 |
| 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 |
| Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Increased circulating antibody level |
OMIM:235900 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:619220 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... |
OMIM:151660 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... |
OMIM:615381 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failure to thrive, Recurre... |
OMIM:619858 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... |
ORPHA:528 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level |
OMIM:619773 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... |
ORPHA:363400 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyce... |
ORPHA:436182 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... |
OMIM:618534 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... |
OMIM:613494 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg... |
ORPHA:79083 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Bronchiectasis, Decreased specific pneumococcal antibody level, Increased circulating IgM level, ... |
OMIM:615513 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Cellulitis, Splenomegaly, Hepatic steatosis, Lipodystrophy, Pancreatitis, Los... |
ORPHA:2348 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Hypertension |
ORPHA:1879 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... |
OMIM:601859 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... |
ORPHA:324575 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... |
OMIM:610947 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus |
OMIM:608320 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
| Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... |
ORPHA:280365 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Increased c... |
OMIM:618982 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete... |
ORPHA:99886 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Eczematoid derm... |
ORPHA:98813 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276575 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Abnormal circulating lipid concentration, Reduced subcutaneous adipose ... |
ORPHA:1979 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture |
OMIM:618856 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
| Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... |
ORPHA:397596 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... |
OMIM:617241 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... |
ORPHA:276580 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Pressure-Induced Localized Lipoatrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy |
ORPHA:90160 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Decreased activity of mitochondrial compl... |
OMIM:613642 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... |
OMIM:616033 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... |
OMIM:613027 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Generalized lipodystrophy, Small for gestational age, Failure to thrive |
ORPHA:50811 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... |
OMIM:232400 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Lipodystrophy |
OMIM:305800 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of facial adipose tissue, Loss of ... |
OMIM:613913 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy, Vasculitis in the ... |
ORPHA:90159 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia |
OMIM:606664 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... |
OMIM:613493 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... |
OMIM:248370 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Cardiomegaly, Adrenocortical c... |
OMIM:130650 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:245400 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... |
OMIM:613327 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Drug-Induced Localized Lipodystrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy |
ORPHA:90157 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... |
OMIM:619707 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... |
ORPHA:276556 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... |
OMIM:608612 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypers... |
OMIM:603909 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Recurrent fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyce... |
OMIM:603552 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Increased circulating IgM level, Skin rash, Arthritis |
ORPHA:37748 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Lipoatrophy, Congestive heart failure |
ORPHA:141184 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Hypertrichosis, Cholestasis, Hy... |
OMIM:246200 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... |
ORPHA:154 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia |
OMIM:615026 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Sple... |
OMIM:617591 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:618459 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:619048 |
| Immunodeficiency 27A |
|
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Rheumatoid factor positive,... |
OMIM:209950 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Multiple lipomas, Lipodystrophy, Elevated circulating creatine kinase concentration |
OMIM:151800 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Fever, Elevated circulating creatinine concentr... |
OMIM:617872 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Fever, Hypertriglyceridemia |
OMIM:608898 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... |
OMIM:308230 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Defective T cell pro... |
OMIM:615615 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... |
OMIM:608594 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
OMIM:300400 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... |
OMIM:607616 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Recurrent fever, Increased circulating ferritin concentration, Fever, Splenomegaly, Hy... |
OMIM:300635 |
| Stiff Skin Syndrome |
|
Short stature, Abnormal circulating lipid concentration, Type II diabetes mellitus, Lipoatrophy |
ORPHA:2833 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Abnormal dental enamel morphology, Intrauterine growth retardation, Typ... |
ORPHA:1133 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic interstitial pneum... |
OMIM:618495 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor... |
OMIM:618048 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... |
ORPHA:90280 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... |
OMIM:608776 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneous adipose tiss... |
OMIM:269700 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
| Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypothermia, Umbilical hernia |
ORPHA:95717 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... |
OMIM:606069 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchidism, Hepatomegaly, Fe... |
ORPHA:2849 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... |
ORPHA:26792 |
| Stiff Skin Syndrome |
|
Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Eczematoid dermatitis |
OMIM:300988 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... |
OMIM:618400 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Obesity, Intrauterine growth retardation, Hypercholesterole... |
OMIM:616222 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Hypercholesterolemia, Second... |
OMIM:301033 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Growth delay, Glycosuria, Failure to thrive, Elevate... |
ORPHA:2088 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Fever, Hyponatremia, Weight loss, Anorexia |
ORPHA:178029 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:159 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98855 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Lipodystrophy, Hypertension |
ORPHA:329918 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Recurrent fever, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenom... |
OMIM:613101 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia |
ORPHA:318 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Recurrent sinusitis, Furuncle, Decreased circulating total IgM, ... |
OMIM:618969 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:3085 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hyperuricemia, Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Decreased activity of mitochondrial complex I, Decreased activity... |
OMIM:615917 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
| Immunodeficiency 114, Folate-Responsive |
|
Recurrent fever, Increased circulating ferritin concentration, Postnatal growth retardation, Sple... |
OMIM:620603 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hyperglycemia, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, H... |
ORPHA:465508 |
| Zika Virus Disease |
|
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal... |
ORPHA:448237 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Intrauterine growth retardation, Hypothermia, Decreased level of coenzyme Q10 in skeletal muscle,... |
OMIM:614654 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Fever |
ORPHA:30925 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Generalized lipodystrophy, Slender build, Intrauterine growth retardation, Con... |
OMIM:608154 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Inflammation of the large intestine, Anti-liver cytosolic ant... |
ORPHA:2137 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retar... |
OMIM:269880 |
| Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... |
ORPHA:263455 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Fulminant hepatitis, Infec... |
OMIM:308240 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar... |
OMIM:619281 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis |
OMIM:314000 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... |
OMIM:615767 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia... |
ORPHA:98853 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Pannicul... |
OMIM:618398 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis |
OMIM:193670 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| H Syndrome |
|
Recurrent fever, Hepatosplenomegaly, Hernia, Lipodystrophy, Short stature, Delayed puberty, Hyper... |
ORPHA:168569 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... |
ORPHA:95459 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Otitis media, Sinusitis |
OMIM:312863 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... |
OMIM:619013 |
| Idiopathic Localized Lipodystrophy |
|
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy |
ORPHA:90158 |
| Papa Syndrome |
|
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... |
ORPHA:69126 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... |
OMIM:607594 |
| Ruijs-Aalfs Syndrome |
|
Hypogonadism, Elbow flexion contracture, Decreased body weight, Lipodystrophy, Hepatocellular car... |
OMIM:616200 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Increased circulating IgM level |
ORPHA:2688 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... |
OMIM:618329 |
| Alg3-Cdg |
|
Decreased liver function, Cardiomyopathy, Lipodystrophy, Abnormality of the endocrine system, Art... |
ORPHA:79321 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Lipodystrophy, Telangiectasia of th... |
OMIM:212112 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ... |
ORPHA:277 |
| Glycogen Storage Disease Ixb |
|
Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Shor... |
OMIM:261750 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hep... |
OMIM:619386 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Polyarticular arthritis, Autoimmune hemolytic anemia, Antinuclear antibody positivity, Punctate k... |
OMIM:617388 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... |
ORPHA:42 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... |
ORPHA:444490 |
| Seckel Syndrome 10 |
|
Insulin resistance, Severe short stature, Glycosuria, Elevated circulating aspartate aminotransfe... |
OMIM:617253 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... |
ORPHA:85435 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Skin rash, Maculopapular exanthema |
ORPHA:83313 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate... |
OMIM:212140 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Increased circula... |
OMIM:616005 |
| Werner Syndrome |
|
Insulin resistance, Chondrocalcinosis, Congestive heart failure, Hypogonadism, Slender build, Thy... |
ORPHA:902 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Abnormal circulating thyroglobulin co... |
ORPHA:95716 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Postnatal growt... |
ORPHA:73272 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Unexplained fevers, Growth delay, Failure to thrive, Elevated circulating aspartate aminotransfer... |
OMIM:614727 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,... |
OMIM:615710 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... |
OMIM:616100 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Failure to thrive, Decreased live... |
ORPHA:79319 |
| Short Syndrome |
|
Insulin resistance, Severe short stature, Abnormal dental enamel morphology, Inguinal hernia, Lip... |
ORPHA:3163 |
| Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly |
OMIM:619273 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... |
OMIM:301082 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... |
OMIM:609812 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Recurrent fever, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive pro... |
OMIM:617099 |
| Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Growth delay, Intrauterine growth retardation, Reduced subcutaneous adipose... |
OMIM:270450 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion ... |
OMIM:609069 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... |
OMIM:600649 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Transient ischemic attack, Cerebral ischemia, Subarachnoid hemo... |
ORPHA:36382 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... |
OMIM:618620 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Elevated circulat... |
OMIM:227810 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... |
OMIM:243700 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul... |
OMIM:618523 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... |
ORPHA:247598 |
| Preeclampsia/Eclampsia 1 |
|
Elevated circulating hepatic transaminase concentration, Hypertension |
OMIM:189800 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis, Short... |
ORPHA:90154 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis |
OMIM:216950 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... |
ORPHA:2905 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... |
OMIM:619924 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... |
OMIM:606721 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... |
OMIM:615830 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Bronchiec... |
OMIM:242860 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... |
OMIM:618394 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Decreased activity of mitochondrial ... |
OMIM:616501 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
| Cystinosis |
|
Type I diabetes mellitus, Polydipsia, Failure to thrive, Fever, Rickets, Hypokalemia, Hypophospha... |
ORPHA:213 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Ob... |
ORPHA:412 |
| Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Anti-liver cytosolic antigen type 1 ant... |
ORPHA:562639 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Cryptorchidism, ... |
OMIM:175700 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:276 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Fasciitis, Hepatosple... |
ORPHA:39812 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Transient ischemic attack, Hypertension |
OMIM:616779 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... |
ORPHA:189427 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Congenital Short Bowel Syndrome |
|
Lipoatrophy |
ORPHA:2301 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
| Solitary Fibrous Tumor |
|
Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Hypop... |
ORPHA:2126 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hyperactivity, Motor stereotyp... |
OMIM:610883 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis |
OMIM:601457 |
| Preeclampsia |
|
Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Type I diabetes mellitu... |
ORPHA:275555 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Atypical scarring of skin, Atrophic scars, Lipodystrophy, Flexion contract... |
ORPHA:75496 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
| Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia |
OMIM:618881 |
| Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Recurrent fever, Flexion contracture of finger, Elevated circulating C-reactive protein concentra... |
OMIM:256040 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Joint stiffness, Malar rash, Skin rash, Cytoplasmic antineutrophil antibody positi... |
OMIM:615934 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Post... |
ORPHA:79333 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Fever, Recurrent hypoglycemia, Hyperammo... |
ORPHA:20 |
| Kleine-Levin Syndrome |
|
Polydipsia, Fever, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive beh... |
ORPHA:33543 |
| Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis, Increased circulating antibody level |
ORPHA:100024 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... |
OMIM:301081 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple lipomas, ... |
ORPHA:1349 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... |
ORPHA:3261 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperammonemia, Hypothermia, Hyperglutamatemia, Hyperglutaminemia, Low plasma ... |
OMIM:237310 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Joint dislocation, Joint stiffness, Joint hypermobility, Decreas... |
OMIM:620210 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Limitation of movement at ankles, Limited hip movement, Limited ... |
ORPHA:206594 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou... |
ORPHA:275 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... |
OMIM:615577 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Recurrent fever, Generalized lipodystrophy, Splenomegaly, Hepatomegaly, Flexion contracture, Pann... |
OMIM:619183 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:610006 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
| Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
| Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Elevated c... |
ORPHA:99829 |
| Trimethylaminuria |
|
Tachycardia, Hypertension, Splenomegaly |
OMIM:602079 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... |
OMIM:619774 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... |
ORPHA:91139 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... |
OMIM:615592 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Postnatal growth retardatio... |
ORPHA:357074 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Anticardiolipin IgG antibody positivity, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... |
OMIM:615559 |
| Tangier Disease |
|
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... |
OMIM:205400 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Failure to thrive |
ORPHA:261304 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Fever, Increased circul... |
ORPHA:158057 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... |
ORPHA:85410 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Abnormality of the wrist, Abnormality of the elbow |
ORPHA:89843 |
| Acrogeria |
|
Telangiectasia of the skin, Lipoatrophy |
ORPHA:2500 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... |
OMIM:615816 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Cutaneous abscess, Chron... |
OMIM:619752 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis |
OMIM:618985 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Intrauterine growth retardation, Hypothermia, Elevated circulating creatine kinas... |
OMIM:618775 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,... |
OMIM:500009 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, O... |
OMIM:620532 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... |
ORPHA:156 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia, Recurrent fever |
OMIM:619468 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... |
OMIM:615558 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Hypothermia, Abnormal circulati... |
ORPHA:90674 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
| Angiostrongyliasis |
|
Stiff neck, Increased circulating specific IgE antibody, Increased circulating IgA level, Increas... |
ORPHA:74 |
| Timothy Syndrome |
|
Cardiomegaly, Hypothermia, Hypocalcemia, Hypoglycemia |
OMIM:601005 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... |
OMIM:619510 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:614025 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... |
OMIM:261680 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:603553 |
| Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Hypothyroidism, Hepatomegaly, Lipoatrophy |
ORPHA:349 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death |
OMIM:615918 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
| Alstrom Syndrome |
|
Irregular menstruation, Alopecia, Elevated circulating hepatic transaminase concentration, Insuli... |
OMIM:203800 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis |
ORPHA:210548 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmune thrombocytopenia, Decreased lymphocyte apoptosis, Autoimmunity, Increased circulating ... |
OMIM:614470 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:241600 |
| Griscelli Syndrome Type 2 |
|
Fever, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79477 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulatin... |
OMIM:614069 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Osteopenia |
OMIM:610539 |
| Centrifugal Lipodystrophy |
|
Lack of facial subcutaneous fat, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue... |
ORPHA:90156 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Immunodeficiency 112 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:620449 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity |
OMIM:615986 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... |
ORPHA:1501 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Shagreen patch |
ORPHA:2617 |
| Menkes Disease |
|
Short stature, Intrauterine growth retardation, Decreased circulating ceruloplasmin concentration... |
OMIM:309400 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Pancrea... |
OMIM:618805 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
| Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... |
OMIM:613496 |
| Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... |
ORPHA:98908 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... |
ORPHA:169160 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology, Endocardial fibroelastosis, Dilated cardiomyopathy |
ORPHA:111 |
| Aromatase Deficiency |
|
Insulin resistance, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Eunuch... |
ORPHA:91 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... |
OMIM:201475 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Fever, Cholestasis, Hyperammonemia, H... |
ORPHA:292 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Focal Segmental Glomerulosclerosis 1 |
|
Ascites, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... |
ORPHA:436159 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... |
OMIM:615812 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Fever, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolem... |
ORPHA:567548 |
| Sepsis In Premature Infants |
|
Temperature instability, Fever, Decreased liver function, Splenomegaly, Hypothermia, Decreased bo... |
ORPHA:90051 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... |
OMIM:214150 |
| Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Sparse body hair, Abnormal hair morphology, Hyperglycemia, H... |
ORPHA:79474 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Large for gestational age, Hypothermia, Umbilical hernia |
ORPHA:226313 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Short stature, Truncal obesity |
OMIM:620639 |
| Progeroid Syndrome, Petty Type |
|
Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Reduced subcutaneous adipos... |
ORPHA:2963 |
| Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension |
OMIM:620734 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Superficial dermal perivascular inflammat... |
OMIM:620632 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... |
OMIM:616834 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... |
OMIM:602579 |
| Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
| Genetic Transient Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Hypothermia, Increased circulating thyroglobulin concentration, Umbi... |
ORPHA:226316 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature |
ORPHA:172 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Prolonged neonatal jaundice, Increase... |
ORPHA:90673 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s... |
OMIM:618234 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... |
OMIM:619418 |
| Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Xanthelasma,... |
OMIM:232200 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Hypertension, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left... |
OMIM:540000 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypertension, Abnormal int... |
ORPHA:363618 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatic... |
ORPHA:17 |
| Galactosemia Iii |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the thyroid gland, Hyperuricemia, Hirsutism, Hypothyroidism, Hypercholesterolemia,... |
ORPHA:77296 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent pneumonia, Pustule |
OMIM:616069 |
| Lassa Fever |
|
Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Decreased circulating total... |
OMIM:619705 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... |
OMIM:264470 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
| Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice, Tachycardia, Hypertension |
OMIM:121300 |
| Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, ... |
ORPHA:90301 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Elevated circulating hepatic transaminase concentration, Atrioventricular block, Hyp... |
OMIM:212138 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... |
OMIM:614878 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... |
ORPHA:98907 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Postnatal gro... |
OMIM:619127 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:99901 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ... |
ORPHA:263501 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Postnatal ... |
ORPHA:508 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
| Pgm3-Cdg |
|
Allergic rhinitis, Bone marrow hypocellularity, Recurrent pneumonia, Bronchiectasis, Atopic derma... |
ORPHA:443811 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... |
OMIM:618922 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
| Werner Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:277700 |
| Inflammatory Pseudotumor Of The Liver |
|
Autoimmune antibody positivity, Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic oral candidiasis |
OMIM:212050 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Failure to thrive, Lipodystrophy |
OMIM:219200 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Malignant hyperthermia, Elevated circulating hepatic transaminase conce... |
OMIM:614921 |
| Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
| Atrial Standstill |
|
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... |
ORPHA:1344 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... |
OMIM:619167 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... |
ORPHA:228308 |
| Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... |
ORPHA:890 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steator... |
OMIM:266510 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, Chronic otiti... |
ORPHA:217390 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia, Inguinal hernia, Joint contracture |
OMIM:614498 |
| Microtriplication 11Q24.1 |
|
Short stature, Obesity, Hyperlipidemia |
ORPHA:289522 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Splenomeg... |
OMIM:301078 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... |
OMIM:615453 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Unexplained fevers, Polydipsia, Failure to thrive, Hypernatremia |
OMIM:125800 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
OMIM:201450 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... |
ORPHA:157 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Unexplained fevers, Polydipsia, Failure to thrive, Hypernatremia |
OMIM:304800 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... |
ORPHA:2394 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Decreased liver function, Cholestasis, Hepatomegaly, Hypergalactosemia |
ORPHA:570422 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:608836 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia |
ORPHA:90065 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Growth delay, Hyperlipidemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... |
OMIM:619111 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:1345 |
| Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture |
OMIM:608540 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Flexion contracture, Hypertension, Small for gesta... |
OMIM:616733 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c... |
OMIM:614582 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Elevated circulating creatine kinase concentration, Delayed puberty, Joint contracture, Hepatomeg... |
OMIM:615704 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidis... |
OMIM:617575 |
| Familial Cold Urticaria |
|
Polydipsia, Fever |
ORPHA:47045 |
| Placental Insufficiency |
|
Insulin resistance, Intrauterine growth retardation, Small for gestational age, Proportionate sho... |
ORPHA:439167 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... |
OMIM:616576 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Chronic oral cand... |
OMIM:615758 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:607676 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Glucose intoleranc... |
ORPHA:785 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly |
ORPHA:134 |
| Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Fever, Hypothermia |
ORPHA:33475 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, L... |
ORPHA:99885 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c... |
ORPHA:254864 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Alpha-Heavy Chain Disease |
|
Fever, Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Growth delay |
ORPHA:100025 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Foot joint contracture, Exocrine pancreatic insufficiency, Hyperec... |
ORPHA:456312 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Anor... |
ORPHA:391 |
| Monosomy 13Q34 |
|
Insulin resistance, Growth delay, Obesity, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent... |
ORPHA:90153 |
| Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia, Abnormal hair morphology |
OMIM:615522 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity |
OMIM:182410 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism |
ORPHA:2430 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture |
ORPHA:171442 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... |
OMIM:246900 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:601494 |
| Wolman Disease |
|
Fever, Failure to thrive, Acute hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:620151 |
| Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232220 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia, Intraut... |
ORPHA:79282 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis |
ORPHA:90368 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... |
ORPHA:331206 |
| Smith-Magenis Syndrome |
|
Increased body weight, Hypercholesterolemia, Short stature, Hypertriglyceridemia |
OMIM:182290 |
| Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Sinusitis, Bronchiectasis |
OMIM:226990 |
| Whipple Disease |
|
Insulin resistance, Fever, Splenomegaly, Hyponatremia, Cachexia, Hepatomegaly |
ORPHA:3452 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormality of temperatu... |
OMIM:618493 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Fever, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen, Elevated circulating dih... |
OMIM:223360 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... |
OMIM:614700 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... |
OMIM:201910 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... |
ORPHA:60 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... |
OMIM:610199 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... |
ORPHA:555905 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... |
ORPHA:417 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Hypertensi... |
OMIM:614008 |
| Overlap Myositis |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating lipid concentration... |
ORPHA:206572 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyebrow, Sparse body hair, Cholestasis, Abnormal dental enamel morphology, Portal hyperten... |
ORPHA:59303 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... |
OMIM:618156 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eosinophilic infiltrati... |
OMIM:618213 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Hypertriglyceridemia |
OMIM:618010 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Failure to thrive, Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Disproportionate short-limb short stature, Abnormal circulating lipid concent... |
OMIM:616541 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... |
ORPHA:1667 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism |
ORPHA:96184 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension, Cryptorchidism |
ORPHA:1192 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Growth delay, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia... |
ORPHA:79259 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Small for ges... |
ORPHA:2959 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... |
OMIM:602390 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... |
OMIM:616263 |
| Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:105200 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Fever, Failure to thrive, Anorexia, Hypernatremia |
ORPHA:223 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
| Peripartum Cardiomyopathy |
|
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... |
ORPHA:563 |
| Becker Nevus Syndrome |
|
Lipoatrophy |
ORPHA:64755 |
| 19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Obesity, Hyperlipidemia, Hepatic steatosis, Arthrogryposis multi... |
ORPHA:254346 |
| Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Rhabdoid Tumor |
|
Hypercalcemia, Neoplasm of the liver, Weight loss, Internal hemorrhage, Hypertension |
ORPHA:69077 |
| Igg4-Related Thyroid Disease |
|
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Sclerosin... |
ORPHA:64744 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... |
OMIM:231530 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... |
ORPHA:439232 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... |
OMIM:210500 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Myelofibrosis, Increased bone mineral density, Hyperostosis craniali... |
OMIM:231095 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Arteritis, Abnormality of connective tissue, Cerebral ischemia, Hypertension, Subarac... |
ORPHA:494424 |
| Senior-Loken Syndrome |
|
Hypertension, Congenital hepatic fibrosis |
ORPHA:3156 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopath... |
ORPHA:70472 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
| Necrotizing Enterocolitis |
|
Ascites, Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Peritonitis |
ORPHA:391673 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Hypertension |
ORPHA:757 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Growt... |
ORPHA:541423 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... |
ORPHA:320 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypertension, Hypokalemia |
OMIM:605635 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Hypertension |
OMIM:617610 |
| Mulibrey Nanism |
|
Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature |
ORPHA:2576 |
| Brucellosis |
|
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... |
ORPHA:1304 |
| 3-Methylglutaconic Aciduria, Type V |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta... |
OMIM:610198 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
ORPHA:79322 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Acetabular dysplasia, Flexion contra... |
OMIM:617303 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Type II diabetes mellitus, Thick hair, Hypercholesterolemia |
ORPHA:401923 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:618549 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... |
ORPHA:183675 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
OMIM:102200 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, Hepatic steatosis |
OMIM:615996 |
| Gaisböck Syndrome |
|
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... |
ORPHA:90041 |
| Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Sinus... |
ORPHA:525731 |
| De Barsy Syndrome |
|
Failure to thrive, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardatio... |
ORPHA:2962 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... |
ORPHA:453533 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... |
OMIM:218030 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate... |
OMIM:256810 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... |
OMIM:615935 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Generalized lipodystrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hype... |
OMIM:616914 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Shor... |
OMIM:601847 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Increased muscle lipid content, Elevated circulating creatine kinas... |
ORPHA:565612 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... |
OMIM:300755 |
| Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... |
ORPHA:79078 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
ORPHA:168593 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Fever, Decreased circulating carnitine concentration, Failure to thrive |
OMIM:618235 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay |
ORPHA:79238 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Tularemia |
|
Pneumonia, Cutaneous abscess, Otitis media, Skin rash, Increased circulating antibody level, Eryt... |
ORPHA:3392 |
| Immunodeficiency 97 With Autoinflammation |
|
Fever, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hypertrigl... |
OMIM:619802 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ... |
ORPHA:358 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Failure to thrive, Fever, Hypothermia, Low plasma citrulline, Hyperalaninemia, H... |
ORPHA:255210 |
| Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuffic... |
OMIM:260370 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co... |
ORPHA:33110 |
| Vipoma |
|
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:97282 |
| Rift Valley Fever |
|
Hepatitis, Skin rash, Infectious encephalitis, Increased circulating IgG level, Increased circula... |
ORPHA:319251 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... |
OMIM:103900 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Raynaud phenomenon |
ORPHA:401945 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... |
ORPHA:90793 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... |
OMIM:231680 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Fever, Hypomagnesemia... |
ORPHA:94093 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Increased circulating interleukin 8 concentration, Antinuclear antibody positivity, Decreased cir... |
OMIM:620514 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... |
ORPHA:348 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Fever, Postnatal growth retardation, Hyponatremia, Elevated serum 11-deoxycort... |
ORPHA:556037 |
| Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... |
OMIM:256500 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... |
ORPHA:331235 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
| Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Increased circulating IgA level, Increased circulating IgG level... |
ORPHA:29073 |
| Somatostatinoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... |
ORPHA:97283 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... |
ORPHA:3464 |
| Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... |
OMIM:619481 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Autoimmunity, Autoimmune h... |
OMIM:613011 |
| Lessel-Kubisch Syndrome |
|
Hypertension |
OMIM:618681 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... |
OMIM:612782 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia |
ORPHA:199296 |
| Tenorio Syndrome |
|
Osteopenia, Hypoinsulinemia, Hypoglycemia, Joint hypermobility |
OMIM:616260 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Corn... |
OMIM:610965 |
| Liddle Syndrome |
|
Arrhythmia, Cerebral ischemia, Hypertension |
ORPHA:526 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Failure to thrive |
ORPHA:28 |
| Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse |
OMIM:163800 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Fever, Increased circulating ferritin co... |
ORPHA:158048 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
| Thymoma |
|
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... |
ORPHA:99867 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Recurrent fever, Cholestasis, Ascites, Elevated circulating aspartate aminotrans... |
OMIM:619573 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemi... |
ORPHA:819 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated circulating hepatic transaminase concentration, Fever, Hyperglycemia, Obesity, Hyperlipi... |
ORPHA:293987 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Fever, Weight loss, Splenomegaly |
ORPHA:86893 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
| Prader-Willi Syndrome |
|
Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone... |
OMIM:176270 |
| Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Postnatal growth retard... |
ORPHA:813 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Congenital diaphragmatic hernia |
OMIM:166300 |
| Wolman Disease |
|
Hepatic failure, Fever, Ascites, Splenomegaly, Cachexia, Hepatomegaly, Growth delay, Steatorrhea |
ORPHA:75233 |
| Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Menkes Disease |
|
Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Intrauterine growth... |
ORPHA:565 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Ascites, Elevated circ... |
OMIM:608104 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly |
ORPHA:77260 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| East Syndrome |
|
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ... |
ORPHA:199343 |
| Dubin-Johnson Syndrome |
|
Fever, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hy... |
ORPHA:234 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Failure to thrive, Inguinal hernia, Hepatic steatosis, Pancreatitis, Hyperhom... |
OMIM:236200 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... |
ORPHA:79239 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... |
OMIM:304790 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... |
ORPHA:404 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Hyperglycemia, Absent gallbladder, Congenita... |
OMIM:600001 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
| Coccidioidomycosis |
|
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Panniculitis, Skin rash, Peritonitis, ... |
ORPHA:228123 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... |
OMIM:613812 |
| Porphyria Variegata |
|
Elevated circulating hepatic transaminase concentration, Abnormality of the liver, Abnormal circu... |
ORPHA:79473 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Postnatal growth retardation, Loss of facial adipose tissue, Congenital genera... |
ORPHA:435628 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Eleva... |
ORPHA:96180 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Cachexia, Diabetes insipidus, Hypertension |
ORPHA:97229 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:619487 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, Positive regitine blocking test... |
ORPHA:94080 |
| Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension |
OMIM:613870 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Hypertension, Cerebral hemorrhage,... |
ORPHA:136 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... |
OMIM:613426 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... |
ORPHA:3287 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestas... |
OMIM:211600 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive |
ORPHA:977 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El... |
OMIM:230400 |
| Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration, Chilblains |
OMIM:615010 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Recurrent pneumonia, Lymphadenitis, Decreased lymphocyte prolife... |
OMIM:618986 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
OMIM:124000 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Alopecia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Cryptorchidism, V... |
ORPHA:536532 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Alopecia Universalis |
|
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension, Abnormal circulating li... |
ORPHA:701 |
| Tick-Borne Encephalitis |
|
Myelitis, Stiff neck, Abnormal circulating cytokine concentration, Increased circulating IgG leve... |
ORPHA:297 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... |
ORPHA:367 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Alg9-Cdg |
|
Periportal fibrosis, Tricuspid regurgitation, Hepatic cysts, Lipodystrophy, Hypoplasia of the ova... |
ORPHA:79328 |
| Dpagt1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Intracranial hemorrha... |
ORPHA:86309 |
| Narcolepsy Type 1 |
|
Precocious puberty, Obesity, Syncope, Hypertension |
ORPHA:2073 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Decreased circulating cortisol level, Hypertension, Reduced circulating... |
OMIM:611489 |
| Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Hypertens... |
OMIM:209900 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I... |
ORPHA:343 |
| Heme Oxygenase 1 Deficiency |
|
Epistaxis, Diffuse alveolar hemorrhage, Increased circulating ferritin concentration, Elevated ci... |
OMIM:614034 |
| Septo-Optic Dysplasia Spectrum |
|
Obesity, Polydipsia, Maternal diabetes |
ORPHA:3157 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, D... |
OMIM:232240 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
| Gitelman Syndrome |
|
Chondrocalcinosis, Polydipsia, Failure to thrive, Recurrent fever, Hypomagnesemia, Hypokalemia, S... |
OMIM:263800 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Hypertension, Failure to thrive, Goiter |
OMIM:231690 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Congestive heart failure, Cholestasis, Failure to thrive in infancy, Hypoketotic ... |
ORPHA:746 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... |
OMIM:619064 |
| Japanese Encephalitis |
|
Genu recurvatum, Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Inf... |
ORPHA:79139 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
| Glycerol Kinase Deficiency |
|
Hypoglycemia, Chronic pancreatitis, Hypertriglyceridemia, Short stature, Hyperglycerolemia, Growt... |
OMIM:307030 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hyperbilirubinemia, Hypothermia, Growth delay, Increased circulating thyroglobu... |
OMIM:218700 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly, Myelofibrosis, Elevated vascular... |
ORPHA:457077 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Umbilical hernia, Hypothermia, Pituitary dwarfism, Prolonged neonatal jaundice, Ove... |
ORPHA:226307 |
| Bloom Syndrome |
|
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Hernia, Generalized hirsutism, Splenomegaly |
ORPHA:93476 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Weight loss, Raynaud phenomenon, Elevated circulating C-reactive protein concentr... |
ORPHA:767 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Hypertension |
ORPHA:654 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex... |
ORPHA:3409 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Raynaud phenomenon |
OMIM:615750 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Increased circulating a... |
OMIM:170100 |
| Nephronophthisis 18 |
|
Cholestasis, Portal fibrosis, Hypertension |
OMIM:615862 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:251274 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Polydipsia, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... |
OMIM:617994 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Fractures of the long ... |
OMIM:166600 |
| Nephronophthisis 9 |
|
Polydipsia |
OMIM:613824 |
| Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
| Premature Aging Syndrome, Penttinen Type |
|
Keloids, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Flexi... |
OMIM:601812 |
| Myelofibrosis |
|
Hepatomegaly, Myelofibrosis, Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:212065 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fever, Hypoglycemia, El... |
ORPHA:99826 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
| Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Increased level of propylene glycol in blood, Cirrhosi... |
OMIM:215600 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... |
OMIM:615630 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Arthr... |
ORPHA:47 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failure to thrive, Ch... |
OMIM:615486 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... |
ORPHA:298 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... |
ORPHA:90795 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... |
OMIM:613658 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... |
ORPHA:231625 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... |
OMIM:611126 |
| Erdheim-Chester Disease |
|
Polydipsia, Fever, Xanthelasma, Weight loss, Increased bone mineral density, Osteolysis |
ORPHA:35687 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... |
OMIM:102700 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... |
ORPHA:77293 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... |
ORPHA:280679 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Joint hemorrhage, Increased circulating IgA level, Eczematoid de... |
OMIM:313900 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Intrauterine growth retardation, Hyperlipidemia, Disproportionate short-trunk ... |
ORPHA:1830 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Joint stiffness, Conjunctivitis, Fl... |
ORPHA:505248 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Glycosuria, Rickets, Hypokalemia, Hypophosphatemia, Abnormal blood... |
ORPHA:411629 |
| Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Growth delay, Hypertriglyceridemia |
ORPHA:261476 |
| Aicardi-Goutières Syndrome |
|
Unexplained fevers, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, ... |
ORPHA:51 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... |
OMIM:243300 |
| Pneumocystosis |
|
Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious pneumonia, Increased circula... |
ORPHA:723 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Atopic dermatitis, Autoimmunity |
ORPHA:2902 |
| Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Ab... |
ORPHA:79324 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Splenomegaly, Cerebral hemorrhage |
OMIM:133100 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hypokalemia, A... |
OMIM:219090 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Cardiomyopathy |
ORPHA:3222 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Hypernatremia |
OMIM:620423 |
| Infantile Refsum Disease |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hepatomegaly, Very long chai... |
ORPHA:772 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Second degree atrioventricular block, Decreased liver function, Pulmonary arteri... |
OMIM:617021 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Abnormal abdomen morphology, Incr... |
ORPHA:97278 |
| Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent fever, Spleno... |
ORPHA:507 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypothermia |
OMIM:608800 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:615595 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
| Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Osteopenia, Cirrhosis, Myeloid leukemia, Myelodysplasia, Mediastinal... |
OMIM:614742 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Failure to thrive, Recurrent fever, Elevated circulating C-reactive protein concentration, Hepato... |
OMIM:619423 |
| Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension, Diabetic ketoacidosis |
ORPHA:70578 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Subcutane... |
OMIM:131100 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... |
OMIM:610600 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts |
OMIM:600666 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... |
OMIM:600802 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... |
OMIM:600785 |
| Bardet-Biedl Syndrome 17 |
|
Obesity, Polydipsia |
OMIM:615994 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... |
ORPHA:449427 |
| Methylcobalamin Deficiency Type Cble |
|
Failure to thrive, Abnormality of the liver, Hypomethioninemia, Hyperhomocystinemia, Hypertension |
ORPHA:2169 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Chondrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Hy... |
OMIM:241200 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration, Hypertension |
ORPHA:567544 |
| Glucagonoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc... |
ORPHA:97280 |
| Wrinkly Skin Syndrome |
|
Failure to thrive, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardatio... |
ORPHA:2834 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Decreased circula... |
ORPHA:231580 |
| Alexander Disease |
|
Hypothermia, Diabetes mellitus, Failure to thrive |
ORPHA:58 |
| Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Multiple lipomas, Lipodystrophy, Pulmonary arterial hypertension |
ORPHA:2396 |
| Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Acut... |
OMIM:619644 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Decreased lymphocyt... |
OMIM:606367 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... |
ORPHA:634 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Osteopenia, Portal hypertension, Retinal telangiec... |
OMIM:617341 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... |
ORPHA:33402 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Failure to thrive, Intrauterine growth retardation, Cir... |
OMIM:614602 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Polydipsia, Hyperaldosteronism |
ORPHA:369929 |
| Felty Syndrome |
|
Cellulitis, Bone marrow hypocellularity, Limitation of joint mobility, Lymphoma, Splenomegaly, Sy... |
ORPHA:47612 |
| Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:145260 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia |
OMIM:202110 |
| Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici... |
OMIM:619991 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro... |
OMIM:300845 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Fever, Cholestasis... |
ORPHA:53035 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Impaired collagen-induced platelet... |
OMIM:139090 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal spleen morphology, Ap... |
ORPHA:2470 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice... |
OMIM:613095 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Postnatal growth retardation, Hyponatremia, Elevated serum 11-deoxycortisol, A... |
ORPHA:556030 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Q Fever |
|
Pneumonia, Anticardiolipin IgG antibody positivity, Hepatitis, Antimitochondrial antibody positiv... |
ORPHA:781 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hypogonadism, El... |
ORPHA:85450 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Failure to thrive, Splenomegaly, Osteopetrosis, Hepatomegaly |
OMIM:615085 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid a... |
ORPHA:227990 |
| Propionic Acidemia |
|
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Sho... |
OMIM:606054 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosp... |
ORPHA:231222 |
| Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr... |
OMIM:229600 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome... |
OMIM:618892 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Abnormal circulating lipid concentration |
ORPHA:488632 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Atrioventricular block, Polycystic ovaries, Omphalocele, Nodular goiter... |
ORPHA:371428 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia |
OMIM:616604 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral regurgitation, Hypertension, Hepatic cysts |
OMIM:173900 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Recurrent frac... |
ORPHA:2314 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen, Fever |
OMIM:235400 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... |
OMIM:607626 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... |
OMIM:276700 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Failure to thrive, Hypophosphatemia, Calcinosis, Hypercalcemia |
OMIM:239200 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased subcutaneous truncal adipose tissue, Growth delay, Failure to thrive, Fever, Camptodact... |
ORPHA:3455 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171420 |
| Cockayne Syndrome Type 1 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot joint contractur... |
ORPHA:90321 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Polydipsia, Failure to thrive, Glycosuria, Hypomag... |
OMIM:219800 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... |
OMIM:168000 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly |
OMIM:617441 |
| Bloom Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Type II diabetes mellitus, Hepatic... |
OMIM:210900 |
| Nodular Non-Suppurative Panniculitis |
|
Fever, Splenomegaly, Weight loss, Hepatomegaly, Panniculitis |
ORPHA:33577 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... |
ORPHA:449285 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio... |
OMIM:605373 |
| Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Irregular menstruation, Elevated circulating hepatic transa... |
ORPHA:110 |
| Vici Syndrome |
|
Decreased circulating IgG level, Joint stiffness, Decreased circulating IgG2 level |
ORPHA:1493 |
| Parathyroid Carcinoma |
|
Chondrocalcinosis, Polydipsia, Hypophosphatemia, Weight loss, Dysphagia, Osteoporosis, Lipoma, Hy... |
ORPHA:143 |
| Pearson Syndrome |
|
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic sple... |
ORPHA:699 |
| Developmental And Epileptic Encephalopathy 111 |
|
Sinus tachycardia, Umbilical hernia, Inguinal hernia, Cryptorchidism, Premature ventricular contr... |
OMIM:620504 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Impaired... |
OMIM:301068 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... |
ORPHA:79106 |
| Polycythemia Vera |
|
Acute leukemia, Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomeg... |
ORPHA:729 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gastrointestin... |
ORPHA:247691 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Intrauterine growth retardation, Hyperammonemia, Hepatomegaly, Flexion c... |
ORPHA:1194 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Vasculitis, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Di... |
OMIM:615688 |
| Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Optic disc pallor, Osteopetrosis, Hepatomegaly, Increased bone miner... |
OMIM:611490 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,... |
OMIM:620300 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Intraute... |
OMIM:614576 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... |
OMIM:620376 |
| Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Heart murmur, Flexion contracture, Lipoatrophy, Sm... |
ORPHA:284979 |
| Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... |
ORPHA:97261 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Griscelli Syndrome |
|
Hepatitis, Abnormal circulating lipid concentration, Fever, Ascites, Splenomegaly, Hepatomegaly, ... |
ORPHA:381 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ... |
OMIM:615234 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Hyperammonemia, Inguinal hernia... |
OMIM:614052 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... |
ORPHA:14 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... |
OMIM:619377 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Failure to thrive, Glycosuria, Elevated circulating creatinine concentr... |
ORPHA:411634 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicul... |
OMIM:220111 |
| Pituitary Apoplexy |
|
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... |
ORPHA:95613 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:617600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of toe, Type I diabetes mellitus, Pancreatic hypoplasia, Camptodactyly of fin... |
OMIM:602782 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614924 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglyc... |
OMIM:251110 |
| Immunodeficiency 54 |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, H... |
OMIM:609981 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatitis, Autoimmunity, Polyclonal elevation of IgM, Pancreatitis, Osteoporosis, Ulc... |
ORPHA:171 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Early balding, Cholelithiasis, Elevated circulating hepatic transaminase conc... |
ORPHA:273 |
| Livedoid Vasculopathy |
|
Graves disease, Abnormal circulating lipid concentration, Atrophic scars, Ischemic stroke, Hypert... |
ORPHA:542643 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardat... |
ORPHA:96182 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encephalitis, P... |
OMIM:307200 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroidi... |
ORPHA:227982 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... |
OMIM:216360 |
| Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... |
ORPHA:30391 |
| Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation |
OMIM:301080 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Splenomegaly, Abnormality of temperature regulation, Hepatomegaly, Abn... |
ORPHA:848 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating tota... |
ORPHA:221139 |
| Pmm2-Cdg |
|
Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating hepatic transaminase ... |
ORPHA:79318 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy... |
ORPHA:251992 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Splenomegaly, C... |
OMIM:266200 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ... |
OMIM:612780 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration, Small for gestational age, Polydipsia, Congenital ... |
ORPHA:2260 |
| Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... |
ORPHA:1163 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Occipital Horn Syndrome |
|
Atypical scarring of skin, Keloids, Hepatitis, Cholestasis, Inguinal hernia, Hypothermia, Hiatus ... |
ORPHA:198 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Met... |
OMIM:251000 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Hypertension, Delayed puberty, Increased blood urea n... |
ORPHA:251004 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Multiple lipomas, Hypot... |
ORPHA:758 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Hepatitis, Osteolysis, Pathologic fracture, Osteomyelitis, Joint s... |
ORPHA:355 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypertension, Glycosuria |
OMIM:618913 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
| Camurati-Engelmann Disease |
|
Bone marrow hypocellularity, Slender build, Sclerosis of skull base, Optic nerve compression, Red... |
OMIM:131300 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polydipsia, Heat intolerance |
OMIM:617671 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Femur frac... |
OMIM:612301 |
| Scorpion Envenomation |
|
Glycosuria, Priapism, Elevated circulating aspartate aminotransferase concentration, Hyperglycemi... |
ORPHA:466677 |
| Thrombocytopenia 6 |
|
Osteoporosis, Myelofibrosis |
OMIM:616937 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Glycosuria, Matur... |
OMIM:137920 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Immunodeficiency 40 |
|
Recurrent fever, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:616433 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Chédiak-Higashi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Fever, Decreased liver function, Increas... |
ORPHA:167 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Hepatic cysts |
OMIM:618061 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure ... |
ORPHA:3260 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat... |
OMIM:612714 |
| Ethylene Glycol Poisoning |
|
Hypothermia, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Immunodeficiency 17 |
|
Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent otitis media, Autoimmune hem... |
OMIM:615607 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hepatic failure, Hypertension, Umbilical hernia |
OMIM:619758 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Multiple lipomas, Telangiectasia of the skin, Lipoatrophy |
ORPHA:276280 |
| Sarcoidosis |
|
Hepatic failure, Fever, Decreased liver function, Portal hypertension, Hypothermia, Scarring, Abn... |
ORPHA:797 |
| Castleman Disease |
|
Follicular hyperplasia, Jaundice, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Myel... |
ORPHA:160 |
| Alagille Syndrome |
|
Failure to thrive, Cholestasis, Reduced number of intrahepatic bile ducts, Telangiectasia of the ... |
ORPHA:52 |
| Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... |
ORPHA:231632 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Intrauterine growth retardation, Hepatic steatosis, Flexion contracture, Neonatal hyp... |
OMIM:616271 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Elevated circulating creatinine concentration, Inguinal hernia, Hepatomegaly, Short s... |
OMIM:614376 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate... |
OMIM:614887 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Hypersplenism, Splenomegaly, Mitral regurgitation, Pulmonary ar... |
OMIM:230800 |
| Polymyositis |
|
Chondrocalcinosis, Fever, Elevated circulating creatine kinase concentration, Weight loss, Hepato... |
ORPHA:732 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... |
OMIM:210250 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Alström Syndrome |
|
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,... |
ORPHA:64 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegal... |
ORPHA:436271 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Cirrhosis... |
ORPHA:99413 |
| Encephalitis Lethargica |
|
Stiff neck, Autoimmunity, Increased circulating antibody level |
ORPHA:83600 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Cirrhosis... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Cirrhosis... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Cirrhosis... |
ORPHA:881 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:26791 |
| Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Acute pancreatitis, Hepatitis, Increased circulating antibody level |
ORPHA:319218 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Hypot... |
ORPHA:445038 |
| Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Umbilical hernia, Inguinal hernia, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys |
OMIM:252900 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, Positive regitine blocking test... |
ORPHA:276621 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu... |
ORPHA:85436 |
| D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... |
OMIM:261515 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... |
OMIM:263200 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia |
OMIM:610644 |
| Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Fever, Ascites, Acute hepatic failure, P... |
ORPHA:131 |
| Danon Disease |
|
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
ORPHA:420741 |
| Fabry Disease |
|
Congestive heart failure, Transient ischemic attack, Hypertension, Angina pectoris, Arrhythmia, D... |
OMIM:301500 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Skin rash, Increased circulating IgA level, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
| Renal Hypoplasia, Bilateral |
|
Glycosuria, Failure to thrive, Hyponatremia, Hyperkalemia, Hypertension, Small for gestational age |
ORPHA:97362 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Fever, Elevated circulating C-reactive protein concentration, Splenomegaly |
ORPHA:85414 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... |
ORPHA:449563 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:618126 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczematoid dermatitis, Elbow contracture, Sclerosis of skull base, Delayed pub... |
OMIM:618162 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Hypertension, Cholestasis, Pulmonic stenosis |
OMIM:610205 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... |
OMIM:619471 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Flexion contracture, Temperature instability, Hypothermia |
ORPHA:99027 |
| Nelson Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... |
ORPHA:199244 |
| Nephronophthisis 3 |
|
Polydipsia, Failure to thrive |
OMIM:604387 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Adre... |
ORPHA:99889 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... |
ORPHA:294 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension, Hypoglycemia |
ORPHA:95619 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Rickets, Osteomalacia, Hypokalemia, Reduced bone mineral density |
ORPHA:18 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Severe failure to thrive, Weight loss, Female hypogo... |
ORPHA:740 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Growth delay, Recurrent fever, Failure to thri... |
ORPHA:231214 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Glycosuria, Enamel hypomineralization, Hypokalemia, Reduced bone m... |
ORPHA:47159 |
| Glutaric Acidemia I |
|
Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia |
OMIM:231670 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Pneumonia, Otitis media, Panhypogammaglobulinemia |
OMIM:602450 |
| Barber-Say Syndrome |
|
Lipodystrophy |
OMIM:209885 |
| Lead Poisoning |
|
Decreased circulating osteocalcin level, Increased LDL cholesterol concentration, Delayed puberty... |
ORPHA:330015 |
| Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage |
ORPHA:231160 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:5 |
| Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Hernia, Hepatomegaly, Synophrys |
OMIM:252930 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... |
ORPHA:100080 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Neonatal death, Stillbirth, Hepatomegaly |
OMIM:614922 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Retinal dysplasia, Failure to thrive, Exocrine pancreatic insufficie... |
OMIM:617052 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... |
OMIM:177200 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Increased circulating gonadotropin level, Hypertension, ... |
ORPHA:347 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, Positive regitine blocking test... |
ORPHA:29072 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... |
OMIM:615508 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Hypomagnesemia, Hyperthyroidism... |
ORPHA:79102 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Absent gallbladder, Reduced C-pepti... |
ORPHA:556955 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... |
ORPHA:48435 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Growth delay, Failure ... |
OMIM:615895 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Failure to thrive, Large for gestational age, Inguinal hernia, Joint hypermobility, Attention def... |
OMIM:607721 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Chondrocalcinosis, Polydipsia, Hypophosphatemia, Dysphagia, Osteoporosis, Lipoma, Hypercalcemia |
ORPHA:99880 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Hypoglycemia |
ORPHA:35708 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Polydipsia |
ORPHA:95513 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatic... |
OMIM:615356 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Papilledema, Osteopetrosis, Increas... |
OMIM:620366 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Failure to thrive, Pathologic fracture, Osteomyelitis, Splenomegaly, Femur fractur... |
OMIM:259700 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Growth del... |
ORPHA:77259 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Hypertension, Small for gestational age |
OMIM:613320 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Growth delay, Failure to thrive, Decreased liver function, Hypoglycemia, Elevated circulating asp... |
OMIM:608779 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
| Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Stiff neck, Morbilliform rash, Cholecystitis, Orchitis, Erythema nodosum, Myocarditis,... |
ORPHA:99827 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... |
OMIM:615474 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia |
ORPHA:31150 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le... |
OMIM:620565 |
| Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614495 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Hypertensive crisis, Elevated circulating calcitonin concentration, E... |
ORPHA:653 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, H... |
OMIM:602522 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... |
OMIM:614492 |
| Postorgasmic Illness Syndrome |
|
Palpitations, Hypertension |
ORPHA:279947 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Hypothyroidism, Squamous cell carcinoma of the tongue |
OMIM:618849 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... |
OMIM:118450 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Intrauterine growth retardation, Hyperammonemia |
OMIM:610678 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
OMIM:619463 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607143 |
| Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
| Brain-Lung-Thyroid Syndrome |
|
Unexplained fevers, Failure to thrive, Abnormal eating behavior, Abnormal drinking behavior, Hype... |
ORPHA:209905 |
| Adult-Onset Still Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... |
ORPHA:829 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomegaly,... |
OMIM:259710 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Neuhauser Syndrome |
|
Primary hypothyroidism, Hypercholesterolemia, Low anterior hairline |
OMIM:249310 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Failure... |
OMIM:264700 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... |
OMIM:241080 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Failure... |
OMIM:277440 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Cryptorchidism, Abnormality of the pancreas, Umbilical hernia |
ORPHA:1555 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced plate... |
OMIM:187900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... |
OMIM:300967 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... |
OMIM:202010 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Transient ischemic attack, Cerebr... |
OMIM:242900 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Elbow flexion contra... |
ORPHA:3132 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Decreased circulating carnitine concentration, Fever, Hypoglycemia, Elevated circulating aspartat... |
OMIM:246450 |
| Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
| Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Absence of subcutaneous fat, Reduced subcutan... |
OMIM:264090 |
| Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism |
OMIM:614496 |
| Oculoskeletodental Syndrome |
|
Elbow flexion contracture, Splenomegaly, Hypocalcemia, Short stature, Hepatomegaly, Hypercalcemia... |
OMIM:618440 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypophosphatemic rickets, Sparse bon... |
OMIM:241530 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... |
ORPHA:100082 |
| Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypertrophic c... |
OMIM:615846 |
| Proteus Syndrome |
|
Thymus hyperplasia, Pulmonary embolism, Abnormal dental enamel morphology, Neoplasm of the thymus... |
ORPHA:744 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Hypertrichosis, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia... |
OMIM:235255 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Failure... |
ORPHA:289157 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... |
ORPHA:2255 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism, Progressive flexion contractures, Transient hyperphenylalaninemia |
ORPHA:98808 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
| Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced haptoglobin level, Eleva... |
OMIM:611881 |
| Isolated Complex I Deficiency |
|
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatomegaly, Increased serum p... |
ORPHA:2609 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Ascites, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Umbilical hernia, Ischemic stroke, Inguinal hernia, ... |
OMIM:208050 |
| Waldenström Macroglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:33226 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Decreased liver function, Failure to thrive, Hypertrophic cardiomyopathy, Increased i... |
OMIM:220110 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl... |
ORPHA:79124 |
| Citrullinemia, Classic |
|
Failure to thrive, Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, E... |
OMIM:215700 |
| Thalidomide Embryopathy |
|
Insulin resistance, Short stature |
ORPHA:3312 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pulmonary e... |
ORPHA:394 |
| Monosomy 18P |
|
Hypothyroidism, Hypertension |
ORPHA:1598 |
| Dengue Fever |
|
Hepatomegaly, Hypoproteinemia, Fever, Ascites |
ORPHA:99828 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Attention deficit hyperactivity disorder, Acute m... |
OMIM:619151 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Atypical scarring of skin, Abnormal circulating calcium-phosphate regulating... |
ORPHA:534 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left ventri... |
ORPHA:57777 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... |
ORPHA:542323 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... |
OMIM:301000 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
| Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Hypertension |
OMIM:617763 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficiency |
OMIM:602088 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... |
ORPHA:85408 |
| Hurler Syndrome |
|
Cardiomyopathy, Camptodactyly of finger, Splenomegaly, Hernia, Angina pectoris, Hepatomegaly, Hyp... |
ORPHA:93473 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Weight loss, Hypertension, Increased circulating ferrit... |
ORPHA:635 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... |
ORPHA:400 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia, Mild postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundice,... |
OMIM:224120 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... |
ORPHA:95699 |
| Dubowitz Syndrome |
|
Hypocholesterolemia, Inguinal hernia, Hyperactivity |
OMIM:223370 |
| Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Increased circulating creatine kinase MB isoform, Hyperkalemia, Hyp... |
OMIM:617595 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Postnatal growth retar... |
ORPHA:1655 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Failure to thrive |
OMIM:244450 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Hyperglycemia, Long... |
ORPHA:444077 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp... |
ORPHA:183 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Splenomegaly, Weigh... |
ORPHA:3226 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Hypotension, Arrhythmia, Pericarditis |
ORPHA:188 |
| Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Hyperammonemi... |
OMIM:207800 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total... |
OMIM:619381 |
| Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... |
ORPHA:220393 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia,... |
ORPHA:469 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, A... |
OMIM:613179 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:79443 |
| Transketolase Deficiency |
|
Hepatomegaly, Type I diabetes mellitus, Elevated circulating ribitol concentration, Proportionate... |
ORPHA:488618 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Vitreous hemorr... |
OMIM:620185 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Fever, Secondary hyperaldosteronism, Reduced circulating transferrin concentrati... |
ORPHA:90363 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... |
ORPHA:3243 |
| Diaphanospondylodysostosis |
|
Inguinal hernia, Enlarged kidney, Abnormal liver lobulation |
OMIM:608022 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... |
OMIM:180300 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension, Diabetes mellitus |
ORPHA:36238 |
| Caudal Regression Syndrome |
|
Maternal diabetes, Hypertension, Cryptorchidism |
ORPHA:3027 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
ORPHA:404454 |
| 17Q12 Microdeletion Syndrome |
|
Elevated circulating hepatic transaminase concentration, Diabetes mellitus, Cryptorchidism, Pancr... |
ORPHA:261265 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Failure to thrive, Hiatus hernia, Camptodactyly, Hypertension |
OMIM:617729 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
| Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
| Cockayne Syndrome A |
|
Atypical scarring of skin, Failure to thrive, Hypogonadism, Loss of facial adipose tissue, Reduce... |
OMIM:216400 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... |
ORPHA:97287 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Increased circulating antibod... |
ORPHA:91500 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability |
OMIM:608643 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Obesity, Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Abnormality of connective tissue, Transient ischemic attack, Ischemic strok... |
ORPHA:91387 |
| Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Hypothyroidism, Diabetes mellitus, Hyperthyroidism |
ORPHA:449291 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension |
OMIM:614653 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Hepatic cys... |
ORPHA:730 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Hyperphosphatemi... |
ORPHA:340 |
| Garg-Mishra Progeroid Syndrome |
|
Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis |
OMIM:620601 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Inguinal hernia, H... |
ORPHA:3342 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Fever, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice, Growth delay |
ORPHA:822 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... |
OMIM:619534 |
| Wolfram Syndrome |
|
Polydipsia, Diabetes mellitus |
ORPHA:3463 |
| Cockayne Syndrome B |
|
Atypical scarring of skin, Failure to thrive, Loss of facial adipose tissue, Splenomegaly, Reduce... |
OMIM:133540 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Klatskin Tumor |
|
Fever, Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Primary Sjögren Syndrome |
|
Arteritis, Chronic hepatitis, Increased circulating antibody level, Lymphocytic interstitial pneu... |
ORPHA:289390 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:266900 |
| Mercury Poisoning |
|
Tachycardia, Hypotension, Hypertension |
ORPHA:330021 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1 |
OMIM:300953 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Hepatic steatosis, Abdominal obesity, Short stature, Flexion con... |
OMIM:619321 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... |
OMIM:619525 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Hypertension, Failure to thrive |
OMIM:256700 |
| Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Hypertension, Myocardial ... |
ORPHA:892 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... |
OMIM:171300 |
| Glycogen Storage Disease Ii |
|
Fever, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased ... |
OMIM:232300 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Has... |
ORPHA:49041 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia |
OMIM:614743 |
| Mucolipidosis Iii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Short stature, Inguinal hernia |
OMIM:252600 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... |
OMIM:222470 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fever, Hypoglycemia |
OMIM:229700 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Epiphyseal stippling, Elevated circulati... |
OMIM:270400 |
| Argininosuccinic Aciduria |
|
Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:207900 |
| Cranioectodermal Dysplasia 4 |
|
Bone marrow hypocellularity, Sagittal craniosynostosis, Rod-cone dystrophy, Joint hypermobility |
OMIM:614378 |
| Spondyloenchondrodysplasia |
|
Vasculitis, Hepatitis, Decreased response to growth hormone stimulation test, Hypothyroidism, Ray... |
ORPHA:1855 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Inguinal hernia, Shortened PR interval, Wolff-Parkinson-White syndrome, Hypertension |
OMIM:614947 |
| Fabry Disease |
|
Fever, Abnormal circulating lipid concentration, Hyperlipidemia, Left ventricular hypertrophy, De... |
ORPHA:324 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Weight loss, Hep... |
OMIM:613673 |
| Serotonin Syndrome |
|
Hypotension, Tachycardia, Hepatic failure, Hypertension |
ORPHA:43116 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:508533 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Gastrointestinal hemorrhage, Cholestasis, Hepatosplenomega... |
ORPHA:731 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
| Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts, Hypertension, Neoplasm of the pancreas |
OMIM:193300 |
| Infant Botulism |
|
Cardiac arrest, Hypotension, Hypertension |
ORPHA:178478 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... |
ORPHA:210136 |
| Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Flexion contracture, Keratoconjunctivitis sicca, Erythroderma |
OMIM:601675 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Multiple lineage myelodysplasia, Myelodysplasia |
ORPHA:98827 |
| Granulomatosis With Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... |
ORPHA:900 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis, Corneal scarring, Hypo... |
ORPHA:642 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo... |
ORPHA:79329 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failur... |
OMIM:605724 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hypertension |
OMIM:603903 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Decreased circulating iron concentration, Hypothermia, Uterine prolapse |
ORPHA:438213 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... |
OMIM:194380 |
| Cockayne Syndrome |
|
Elevated circulating hepatic transaminase concentration, Congenital contracture, Contractures of ... |
ORPHA:191 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:208900 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:557000 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Camptodactyly ... |
OMIM:309000 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Enlarged ... |
OMIM:200995 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension, Hepatocellular carcinoma |
OMIM:176000 |
| Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
| Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... |
ORPHA:1359 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Alopecia, Hypertrichosi... |
OMIM:263700 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,... |
ORPHA:100075 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Lymphoma, Myelodysplasia |
OMIM:616871 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Failure to thrive, Umbilical hernia, Cholestasis, Hepatosplenomegaly, Congenita... |
OMIM:266920 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,... |
OMIM:618278 |
| Rothmund-Thomson Syndrome Type 1 |
|
Abnormal trabecular bone morphology, Osteopenia, Neoplasm of the skin, Basal cell carcinoma, Abno... |
ORPHA:221008 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentration |
OMIM:618886 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Cysticercosis |
|
Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas... |
ORPHA:1560 |
| Immunodeficiency 31C |
|
Growth delay, Fever, Splenomegaly, Weight loss, Delayed puberty, Short stature, Hepatomegaly, Dia... |
OMIM:614162 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
| Familial Hypoaldosteronism |
|
Hypotension, Orthostatic hypotension, Hypovolemia |
ORPHA:427 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Abnormal peritoneum morphology, Tachycardia, Hypertension |
ORPHA:1764 |
| Relapsing Fever |
|
Tachycardia, Hypotension, Epistaxis |
ORPHA:91547 |
| Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Hepatitis, Splenomegaly, Pancreatitis, Lymphadenopathy, ... |
ORPHA:549 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Osteopenia, Genu valgum, Limited elbow extension, Laryngotracheo... |
OMIM:271510 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hepatic failure, Coarse metaphyseal trabecularization, Lymphoma, Rec... |
ORPHA:1775 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... |
OMIM:223900 |
| Denys-Drash Syndrome |
|
Hypertension, Ovarian gonadoblastoma, Posterolateral diaphragmatic hernia, Congenital diaphragmat... |
OMIM:194080 |
| Shwachman-Diamond Syndrome |
|
Hypoamylasemia, Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, E... |
ORPHA:811 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:185000 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Trichorrhexis nodosa, Abnormality of the liver, Splenomegaly, Inguinal hernia, ... |
ORPHA:84064 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Growth delay, Splenomegaly, Short stature, Hepatomegaly, Jaundice, Hyperkalemia, Conjugated hyper... |
OMIM:608885 |
| Greenberg Dysplasia |
|
Bone marrow hypocellularity, Fractured rib, Ectopic ossification, Costal cartilage calcification,... |
OMIM:215140 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... |
ORPHA:2299 |
| Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612926 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... |
ORPHA:90068 |
| Rett Syndrome |
|
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M... |
ORPHA:778 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612924 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Thin ... |
OMIM:300009 |
| Omenn Syndrome |
|
Hepatomegaly, Hypoproteinemia, Splenomegaly, Failure to thrive |
OMIM:603554 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Hepatic steatosis,... |
ORPHA:391665 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circula... |
OMIM:618500 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia |
ORPHA:31824 |
| Ogden Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Hyperbilirubinem... |
OMIM:300855 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612925 |
| Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Hypertension |
OMIM:219250 |
| Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Failure to thrive |
OMIM:613989 |
| Mevalonic Aciduria |
|
Morbilliform rash, Increased circulating IgD level, Skin rash |
OMIM:610377 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure |
OMIM:208000 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... |
OMIM:201750 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Cryptorchidis... |
ORPHA:96191 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... |
ORPHA:100078 |
| Tuberous Sclerosis Complex |
|
Pituitary adenoma, Pheochromocytoma, Hepatic cysts, Parathyroid hyperplasia, Hypertension, Carcin... |
ORPHA:805 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Joint contracture of the hand, Umbilical hernia, Mitral regurgitation, Ingu... |
OMIM:611962 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
ORPHA:100026 |
| Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypertension |
OMIM:243910 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Peritonitis, Pancreatit... |
ORPHA:90038 |
| Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... |
OMIM:601346 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Hypocalcemia, Hyponatremia, Hypertension, Pancreatitis, Myocarditis, Hyperka... |
ORPHA:544482 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage |
ORPHA:79456 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating ferritin concen... |
OMIM:222700 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Type I diabetes mellitus, Orthostatic hypotension, Hypoglycemia |
ORPHA:199299 |
| Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Hypotension, Ketotic hypoglycemia, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... |
OMIM:181000 |
| Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Osteopenia, Neoplasm of the skin, Basal cell carcinoma, Abno... |
ORPHA:2909 |
| Wagro Syndrome |
|
Obesity, Hypertension |
OMIM:612469 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Large for gestational age, Hip contracture, Microvesicular hepatic ste... |
OMIM:300868 |
| Myhre Syndrome |
|
Precocious puberty, Hypogonadism, Inguinal hernia, Femoral hernia, Hypertension |
ORPHA:2588 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... |
ORPHA:139411 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Atrial fibrillation, Hypertension |
ORPHA:976 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Umbilical hernia, Decreased body weight, Premature ventricular contraction, Pu... |
OMIM:602535 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures, Increased circ... |
ORPHA:77261 |
| Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock, Hypoglycemia |
ORPHA:173 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Squamous cell carcinoma of the skin, Hepatic necrosis, Cirrhosis, Os... |
OMIM:127550 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Umb... |
ORPHA:116 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... |
ORPHA:589 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous ca... |
ORPHA:391487 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Tachycardia, Hypertension, Hepatocellular carcinoma |
ORPHA:79276 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Rothmund-Thomson Syndrome Type 2 |
|
Abnormal trabecular bone morphology, Osteopenia, Neoplasm of the skin, Basal cell carcinoma, Lymp... |
ORPHA:221016 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Enamel hypoplasia, Pancreatic cysts, Hypertension |
OMIM:311200 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bone marrow hypocellularity, Optic atrophy, Pathologic fracture, Increased susceptibi... |
OMIM:612199 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Cirrhosis, Facial telangiectasia, Cerebral hemorrhage, Fingerpad tel... |
OMIM:600376 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Breast aplasia, Supraventricular tachycardia, Multiple lipomas, Hyperte... |
OMIM:181270 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Hypertension |
ORPHA:2912 |
| Viss Syndrome |
|
Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent joint disloc... |
OMIM:619472 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
| Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
| Mucopolysaccharidosis Type 2 |
|
Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Inguinal hernia, Splenomegaly... |
ORPHA:580 |
| Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
| Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Camptodactyly of finger, Abnormal liver lobulation |
ORPHA:99776 |
| Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Decreased c... |
OMIM:242840 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Cardiomyopathy, Camptodactyly of finger, Umbilical hernia, Hepatosplenomegaly, Inguinal hernia, S... |
ORPHA:217085 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgG level, Delayed cranial suture closure, Decreased circulating IgA level,... |
OMIM:620005 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Failure to ... |
OMIM:619475 |
| Alveolar Echinococcosis |
|
Cholangitis, Cutaneous abscess, Increased circulating antibody level |
ORPHA:284 |
| Aceruloplasminemia |
|
Congestive heart failure, Elevated hepatic iron concentration, Abnormal pancreas morphology, Diab... |
ORPHA:48818 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... |
OMIM:607944 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity |
OMIM:224230 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia |
OMIM:174000 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Cardiomyopathy, Camptodactyly of finger, Umbilical hernia, Hepatosplenomegaly, Inguinal hernia, S... |
ORPHA:217093 |
| Acute Radiation Syndrome |
|
Telangiectasia, Hypotension |
ORPHA:454831 |
| Trichinellosis |
|
Increased circulating IgE level, Conjunctivitis, Skin rash |
ORPHA:863 |
| Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction |
OMIM:208060 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
| Orofaciodigital Syndrome Type 1 |
|
Abnormal dental enamel morphology, Exocrine pancreatic insufficiency, Pancreatic cysts, Hypertens... |
ORPHA:2750 |
| Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Keratoconjunctivitis sicca |
OMIM:200400 |
| Al Amyloidosis |
|
Increased circulating antibody level |
ORPHA:85443 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto... |
OMIM:115310 |
| Hallermann-Streiff Syndrome |
|
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Small for gestational age |
OMIM:234100 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Radial dysplasia |
OMIM:617244 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Obesity, Splenomegaly, Inguinal hernia,... |
OMIM:188400 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Cryptorchidism |
OMIM:613834 |
| Apert Syndrome |
|
Ovarian neoplasm, Hypertension |
ORPHA:87 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pulmonary embolism, Glycosuria, Unconjugated hyperbilir... |
ORPHA:447 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration |
ORPHA:101096 |
| Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Type I diabetes mellitus, Hypertension |
ORPHA:2036 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Hepatosplenomegaly, Optic nerve compression, Osteopetrosis, Diaphyseal scle... |
OMIM:259730 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Cellulitis, Splenomegaly, Liver abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Cellulitis, Splenomegaly, Liver abscess |
OMIM:233710 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension |
OMIM:617913 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
| Blau Syndrome |
|
Pericarditis, Hypertension, Camptodactyly of finger, Flexion contracture of toe |
OMIM:186580 |
| Somatomammotropinoma |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
ORPHA:314769 |
| Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
| Williams Syndrome |
|
Type II diabetes mellitus, Mitral regurgitation, Precocious puberty, Cholelithiasis, Failure to t... |
ORPHA:904 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... |
ORPHA:79128 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Cellulitis, Splenomegaly, Liver abscess |
OMIM:233690 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Joint contracture of the 5th finger, Hepatic steatosis |
OMIM:619934 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:120330 |
| Acute Adrenal Insufficiency |
|
Hypotension, Hypoglycemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia |
ORPHA:95409 |
| Reynolds Syndrome |
|
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil... |
OMIM:613471 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteoporosis, Osteopenia, Bone marrow hypocellularity, Exudative retinopathy |
OMIM:613990 |
| Williams-Beuren Syndrome |
|
Umbilical hernia, Failure to thrive in infancy, Obesity, Glucose intolerance, Portal hypertension... |
OMIM:194050 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Hyperte... |
ORPHA:1435 |
| 1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Camptodactyly of finger, Hypogonadis... |
ORPHA:1606 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak |
ORPHA:36234 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Arrhythmia, Telangiectasia of the skin |
ORPHA:2135 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Hypertension, Congestive heart failure |
ORPHA:1457 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypothyroidism, Hypertension |
ORPHA:93256 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Failure to thrive, Hypomagnesemia, Cholestasis, Elbow flexion contracture,... |
OMIM:619503 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Optic atrophy, Failure to thrive, Recurrent fractures, Retinal atrop... |
ORPHA:2785 |
| Alkaptonuria |
|
Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation, Mitral stenosis, Hypothyro... |
ORPHA:56 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis... |
OMIM:219700 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous ... |
OMIM:147060 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Neonatal hypoglycemia |
ORPHA:90791 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Cholelithiasis, Gastrointestinal hemorrhage, Failure to thrive, Umbilical he... |
ORPHA:567 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage |
ORPHA:319213 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis |
OMIM:613987 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension, Hypophosphatemia, Azotemia |
OMIM:104200 |
| Myhre Syndrome |
|
Aortic valve stenosis, Obesity, Camptodactyly, Hypertension, Small for gestational age |
OMIM:139210 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
| Acromegaly |
|
Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Hypertrophic cardiomyopa... |
ORPHA:963 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Shoulder flexion contracture, Failure to thrive, Elbow flexion contracture, Hyperbilirubinemia, K... |
OMIM:210710 |
| Neurofibromatosis Type 1 |
|
Precocious puberty, Pheochromocytoma, Multiple lipomas, Delayed puberty, Carcinoid tumor, Abnorma... |
ORPHA:636 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
| Au-Kline Syndrome |
|
Hypertension, Failure to thrive |
OMIM:616580 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Optic atrophy, Oropharyngeal squamous cell carcinoma, Hodgkin lympho... |
OMIM:305000 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Highly arched eyebrow, Hepatic sinusoidal dilatation, Long eyelashes, Splenic cyst, Cryptorchidis... |
OMIM:620371 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Arrhythmia, Congestive heart failure |
ORPHA:428 |
| Hereditary Xanthinuria |
|
Rheumatoid arthritis, Gout, Arthropathy |
ORPHA:3467 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
| Blau Syndrome |
|
Camptodactyly of finger, Abnormality of the liver, Large vessel vasculitis, Splenomegaly, Pulmona... |
ORPHA:90340 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
| Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
| Hellp Syndrome |
|
Hypotension, Internal hemorrhage, Cerebral hemorrhage |
ORPHA:244242 |
| Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Recurrent hypoglycemia |
ORPHA:293978 |
| Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension |
ORPHA:402075 |
| Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
| Alport Syndrome |
|
Hypertension |
ORPHA:63 |
| Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Failure to thrive, Ascites, Elevated... |
OMIM:243800 |
| Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
| Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Adrenal calcification, Left ventricular systolic dysfunction, Hypop... |
ORPHA:51608 |
| Addison Disease |
|
Hypotension, Type I diabetes mellitus, Orthostatic hypotension, Hypoglycemia |
ORPHA:85138 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Tricuspid stenosis, Palpitations, Heart murmur |
ORPHA:100079 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Acute Transverse Myelitis |
|
Subarachnoid hemorrhage, Decreased circulating copper concentration, Hypertension, Orthostatic hy... |
ORPHA:139417 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... |
ORPHA:466650 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Neonatal hypoglycemia, Hypovolemia |
ORPHA:168558 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Neonatal hypoglycemia, Hypovolemia |
ORPHA:289548 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Neonatal hyperbilirubinemia, Enamel hypoplasia |
OMIM:300896 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Supernumerary nipple, Pulmonary arterial hypertension, Hypertension, Pulmo... |
OMIM:100300 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Neurofibromatosis, Type I |
|
Pheochromocytoma, Hypertension, Parathyroid adenoma |
OMIM:162200 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Severe failure to thrive, Pulmonary arterial hypertension, Renovascular hypertens... |
ORPHA:3472 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Elevated circulating parathyroid hormone level, Hypertrophic cardiomyopathy, ... |
ORPHA:97685 |
| Leukocyte Adhesion Deficiency |
|
Vaginitis, Peritonitis, Nail dystrophy, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Systemic Lupus Erythematosus |
|
Weight loss, Hypertension, Raynaud phenomenon |
ORPHA:536 |
| Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Vertebral fusion, Congenital hip dislocation, Camptodactyly of f... |
ORPHA:373 |
| Multicystic Dysplastic Kidney |
|
Hypertension, Cryptorchidism |
ORPHA:1851 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy |
ORPHA:68 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency, Joint hypermobility, Sagittal craniosy... |
ORPHA:500150 |
| Leptospirosis |
|
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... |
ORPHA:509 |
| Pierson Syndrome |
|
Retinal hemorrhage, Hypoproteinemia, Hypertension |
OMIM:609049 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Hypoglycemia, Shock, Intracranial hemorrhage |
ORPHA:90062 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Umbilical hernia, Cryptorchidism, Corneal neovascularization, Inguinal hernia, Omphalocele, Hyper... |
OMIM:308205 |
| Non-Acquired Panhypopituitarism |
|
Hypotension, Hypoglycemia |
ORPHA:90695 |
| Vascular Ehlers-Danlos Syndrome |
|
Cigarette-paper scars, Umbilical hernia, Transient ischemic attack, Cystocele, Inguinal hernia, U... |
ORPHA:286 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypotension, Neonatal hypoglycemia, Hypovolemia |
ORPHA:90794 |
| Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
| Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Hypoglycemia |
ORPHA:95494 |
| Plague |
|
Hypotension, Tachycardia, Arrhythmia, Hematemesis |
ORPHA:707 |
| Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |
