Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... |
ORPHA:2398 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... |
ORPHA:79084 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem... |
ORPHA:528 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-s... |
OMIM:617872 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyper... |
ORPHA:79083 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... |
ORPHA:2348 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Lethargy,... |
ORPHA:26792 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperalaninemia, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619386 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom... |
ORPHA:280365 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Episod... |
ORPHA:324575 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Lipodystrophy, A... |
OMIM:613327 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Increased resting energy expenditure... |
ORPHA:369873 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, I... |
OMIM:300148 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Increased C-peptide level, Episodic hyperhi... |
ORPHA:276575 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Abnormal circulating... |
ORPHA:71212 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia, Hypothermia |
OMIM:615026 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Increased C-peptide leve... |
ORPHA:276580 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... |
OMIM:610947 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidros... |
ORPHA:276556 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Cyanosis, H... |
ORPHA:159 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... |
ORPHA:369 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... |
ORPHA:90674 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Cachexia, Elevated circulating... |
ORPHA:42 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance, Mildly elevated creatine kinase |
OMIM:618400 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Hypothermia, Elev... |
OMIM:251880 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancr... |
ORPHA:276608 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... |
ORPHA:90673 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, Hypothermia |
OMIM:610006 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth |
ORPHA:199276 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
Short Syndrome |
|
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete... |
OMIM:269880 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Ataxia, Obesity |
OMIM:620270 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Narcolepsy Type 1 |
|
Syncope, Obesity |
ORPHA:2073 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Arrhythmia, Abnor... |
ORPHA:3191 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Decre... |
ORPHA:412 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Mehmo Syndrome |
|
Diabetes mellitus, Obesity |
ORPHA:85282 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Ataxia, Broad-based gait, Insulin resistance, Dilated cardiom... |
OMIM:616541 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Hypothermia, Ventricular tachycardia, Atrioventricular block... |
OMIM:601005 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Ataxia,... |
ORPHA:20 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu... |
ORPHA:73272 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... |
OMIM:214150 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98855 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fever, Ataxia, Hyponatremia, Cachexia, M... |
ORPHA:3452 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular... |
OMIM:618329 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity |
OMIM:616756 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t... |
OMIM:606721 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98853 |
Werner Syndrome |
|
Lipoatrophy, Lipodystrophy, Myocardial infarction, Telangiectasia of the skin, Congestive heart f... |
ORPHA:902 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... |
ORPHA:96184 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Hypertensio... |
OMIM:615830 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... |
ORPHA:91 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... |
ORPHA:98863 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed puberty... |
ORPHA:633 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Hypothermia, Insulin resistance, Hyperinsuli... |
ORPHA:230 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc... |
OMIM:614921 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Hyperhidrosis, Gait disturbance, Arrhythmia |
ORPHA:29822 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Jaundice, Hyperl... |
ORPHA:444490 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating c... |
OMIM:212138 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Elevated... |
OMIM:618805 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... |
OMIM:615812 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
ORPHA:247585 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... |
ORPHA:508 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Congestive heart failure, Decreased liver function, Hypertrophic cardi... |
ORPHA:70472 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Failure to thrive, Aplasia of the left hemidiaphragm, Adrenal insufficiency |
OMIM:618238 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Ataxia, Obesi... |
ORPHA:10 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... |
OMIM:619013 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Hypothermia |
OMIM:614654 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Tachycardia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Hypogonadism |
ORPHA:261483 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis |
ORPHA:210548 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... |
OMIM:201475 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abno... |
OMIM:209900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee flexion ... |
OMIM:608836 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Fever, Hyponatremia, Cyanosis, Decreased response to growth hormon... |
ORPHA:293987 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine ... |
ORPHA:99901 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T... |
ORPHA:358 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Hypogonadism, Obesity |
OMIM:615996 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Ataxia, Pancreatic fibrosis, Achilles tendon ... |
OMIM:616263 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Diffuse hepatic steatosis, Failure to thrive in infancy, Tricuspid regurgitat... |
ORPHA:746 |
Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Hepatic s... |
ORPHA:96168 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Hypothermia, U... |
ORPHA:17 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hepatic steatosis, Precocious puberty, Hyperlipidemia, Obesity, Mitral regu... |
ORPHA:254346 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... |
ORPHA:231226 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Malignant hyperthermia, Congenital hypothyroidism |
ORPHA:352530 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Low-grade fever, Lethargy, Hashimoto thyroiditis, Hypoparat... |
ORPHA:199299 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Hyperhid... |
ORPHA:813 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... |
OMIM:264470 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Sudden cardiac death, Hypothermia, Precocious puberty, Hyperhidrosis, ... |
ORPHA:58 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... |
ORPHA:91355 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Wolman Disease |
|
Fever, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Adrenal insufficiency, Steato... |
ORPHA:75233 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Pericarditis, Hypergonadotropic h... |
OMIM:212065 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia,... |
OMIM:617575 |
Patent Ductus Venosus |
|
Hyperammonemia, Congenital portosystemic venous shunt, Decreased liver function, Persistent paten... |
OMIM:601466 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... |
OMIM:618493 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hype... |
ORPHA:465508 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... |
ORPHA:231214 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w... |
OMIM:614450 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity |
ORPHA:480907 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Hypothermia, Pulmonary embolism,... |
ORPHA:79282 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia, Inguinal hernia, Hypothermia |
OMIM:614498 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabet... |
ORPHA:2047 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesity, Difficulty walking |
ORPHA:464282 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ... |
OMIM:240300 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... |
OMIM:610198 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Primary Erythromelalgia |
|
Vasculitis, Hypothermia |
ORPHA:90026 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper... |
OMIM:231530 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... |
OMIM:616501 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th... |
OMIM:218700 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling gait, Male hypogon... |
OMIM:300055 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Myocardial infarction, Hyperhomocystinemia, Disproportionate tall stature, Hyper... |
OMIM:236200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... |
OMIM:223360 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis |
OMIM:201450 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hypoalbu... |
ORPHA:292 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Acute hepatic steatosis, Lethargy, Failure to thrive |
OMIM:210200 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis,... |
ORPHA:14 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Meningococcal Meningitis |
|
Shock, Fever, Hypothermia, Elevated circulating C-reactive protein concentration, Hypotension, Le... |
ORPHA:33475 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Epistaxis, Hepatocellular ca... |
ORPHA:79259 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Pulmonary insufficiency, Right bundle br... |
OMIM:619322 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... |
ORPHA:90041 |
Late-Onset Familial Hypoaldosteronism |
|
Fever, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone l... |
ORPHA:556037 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Heart block, Elevated circulati... |
ORPHA:228308 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Telangiect... |
ORPHA:125 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Choreoathetosis, Cardiomyopathy, Hepatic steatosis... |
ORPHA:445038 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Loss of ambulation, Unsteady gait, Ataxia, Obesity |
OMIM:618124 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity |
OMIM:614845 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Ataxia, Obesity |
OMIM:614202 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... |
ORPHA:398079 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Inability to walk, Flexion contracture, Obesity, Hypogonadism, Camp... |
OMIM:615547 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardial contractility, Mildly elev... |
ORPHA:79102 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Hyperc... |
ORPHA:95409 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal circulating leptin concentra... |
ORPHA:79474 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
Immunodeficiency 61 |
|
Obesity, Recurrent fever |
OMIM:300310 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Gait disturbance... |
ORPHA:819 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hy... |
ORPHA:348 |
Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... |
ORPHA:2905 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... |
ORPHA:90791 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Gait disturbance |
ORPHA:2429 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Unsteady gait, Dysmetria, Truncal obesity, Hypogonadism, Fle... |
ORPHA:3041 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... |
OMIM:603233 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Tip-toe gait, Ataxia, Spastic gait, Obesity |
OMIM:604360 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Ataxia, Microvesicular hepatic steatosis, D... |
ORPHA:66634 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Pulmonary embolism, Obesity, Hypogonadism, Ty... |
ORPHA:96263 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:85138 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure to... |
OMIM:609981 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Inability to... |
ORPHA:488632 |
Summitt Syndrome |
|
Camptodactyly of finger, Tall stature, Obesity |
ORPHA:3210 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... |
ORPHA:273 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ... |
OMIM:610600 |
Down Syndrome |
|
Obesity, Gait disturbance, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:2233 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Baralle-Macken Syndrome |
|
Inability to walk, Obesity |
OMIM:619255 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertensio... |
OMIM:619487 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Arrhythmia, Gait disturbance, Camptodactyly of finger |
ORPHA:2928 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Ataxia, Cardiac conduction abnormality, Hypothermia, Dila... |
ORPHA:255210 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Lethargy, Internal hemorrhag... |
ORPHA:99826 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Cardiac arrest, Hypothermia |
ORPHA:168593 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... |
ORPHA:79445 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
Menkes Disease |
|
Intracranial hemorrhage, Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Elevated circulating creatine kinase concentration, Congestive heart failure, Card... |
ORPHA:52430 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Glycosuria, Diffuse hepatic ste... |
ORPHA:436271 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Adrenal insufficiency, Increase... |
ORPHA:427 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hypovole... |
ORPHA:275761 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... |
ORPHA:54595 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:168558 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Fever, Tachycardia, Hyponatremia, Elevated circulating creatine ki... |
ORPHA:94093 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... |
OMIM:611126 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Elevated hepatic transaminase |
OMIM:617406 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... |
OMIM:300972 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Congestive heart failure, Flexion contracture, Choreoathetosis, Hepatic steatosis, Neonat... |
OMIM:616271 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis |
ORPHA:251076 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Flexion contra... |
ORPHA:398069 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Ataxia, Obesity |
ORPHA:411515 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Premature adrenarche, Hyponatremia, ... |
ORPHA:90794 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Anhidrosis, Orthostatic hypotension, Ataxia, Hypothermia, Flexion contracture, Dysmetria, Gait at... |
ORPHA:99027 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr... |
OMIM:612079 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Broad-based gait, Shuffling gait, Obesity |
ORPHA:3077 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Ataxia, Obesity, Telangiectasia |
ORPHA:459033 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Int... |
OMIM:617053 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... |
OMIM:616267 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance |
ORPHA:93952 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Hypothyroidism, Obesity |
OMIM:600430 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of ski... |
ORPHA:565 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Hypohidrosis, Abnormality of the hypot... |
ORPHA:3157 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:171839 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o... |
ORPHA:740 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Very long chain fatty acid accumulation, Ataxia, Abnormal c... |
ORPHA:139396 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating creatine kinase ... |
ORPHA:369840 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Hypogonadism, Obesity, Cholestasis |
OMIM:616629 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Obesity |
ORPHA:171829 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Gait ... |
ORPHA:43 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity |
ORPHA:464288 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy... |
OMIM:615300 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Hypogonadism, Camptodactyly of finger, Flexion contracture of toe |
ORPHA:3409 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated... |
ORPHA:79240 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Ataxia, Primary adrenal insufficiency, Cardiomyopathy, Thi... |
OMIM:530000 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Cyanosis, Hypothermia, Co... |
ORPHA:31826 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Heart m... |
OMIM:615418 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Ataxia, Hypoglycemia, Cholangitis, Microvesicula... |
OMIM:124000 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity, Hypogonadism |
OMIM:300882 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... |
OMIM:229600 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron conc... |
OMIM:619991 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Peritonitis, Temperature instability, Bradycardia... |
ORPHA:391673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Truncal ataxia, Hypertrophic cardiomyopathy, Decreased liver function, Incr... |
OMIM:220110 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
Pure Autonomic Failure |
|
Anhidrosis, Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension |
ORPHA:441 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Abdominal obesity, Hypogonadism, Delayed puberty |
OMIM:300354 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Hypotension, O... |
ORPHA:439822 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Type II diabetes mellitus, Facial telangiecta... |
OMIM:210900 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Small for gestational age, Hyp... |
OMIM:613658 |
Triple A Syndrome |
|
Anterior hypopituitarism, Adrenal insufficiency, Ataxia |
ORPHA:869 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Hyperhidrosis, Choreoathetosis, Athetosis, Hypotension, Lethargy, Tempe... |
OMIM:608643 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... |
ORPHA:293978 |
Carpenter Syndrome |
|
Umbilical hernia, Obesity, Polysplenia |
ORPHA:65759 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Ataxia, Gait imbalance, Obesity |
OMIM:619312 |
Angelman Syndrome Due To A Point Mutation |
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Broad-based gait, Ataxia, Obesity, Gait imbalance, Heat intolerance |
ORPHA:411511 |
Sarcoidosis |
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Fever, Hepatomegaly, Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, ... |
ORPHA:797 |
Bardet-Biedl Syndrome |
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Obesity, Hypertension, Hypoplasia of the ovary, Hepatic fibrosis, Hypogonadism |
ORPHA:110 |
Corticosterone Methyloxidase Type I Deficiency |
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Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive, De... |
OMIM:203400 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating cortisol level, Orthostatic hypotension, Ataxia, Adrenocorticotropin recept... |
OMIM:231550 |
Meningioma |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of facial adipose ... |
ORPHA:3455 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Ataxia, Obesity, Tall stature |
OMIM:618430 |
Myasthenia Gravis |
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Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Hepatitis, Abnormal thymus mo... |
ORPHA:589 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Cardiomyopathy, Decreased liver function, Lethargy, Hepatic steatosis |
OMIM:614922 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Tric |