Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly |
ORPHA:2398 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... |
ORPHA:71529 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... |
ORPHA:293964 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
Plin1-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... |
ORPHA:280356 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Decreased response to gr... |
ORPHA:71526 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Reduced subcuta... |
OMIM:612526 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... |
ORPHA:79085 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity, Hyperinsulinemia, Overgrowth |
OMIM:620195 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Hepatic steatosis, Obesity, Type II diabetes mellitus, Insulin resistance, ... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M... |
OMIM:604367 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... |
ORPHA:324575 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight |
OMIM:613375 |
Cortisone Reductase Deficiency 2 |
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... |
OMIM:614662 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... |
OMIM:613877 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... |
ORPHA:435660 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypo... |
OMIM:606762 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pa... |
ORPHA:276580 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... |
OMIM:617885 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... |
ORPHA:276575 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Insulin resistance, Lipodystrophy, Abdominal obesity, Diabetes mellitus, Hepatic ... |
OMIM:615980 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... |
ORPHA:276608 |
Mody |
|
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Hy... |
ORPHA:552 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ... |
OMIM:615238 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Reduc... |
ORPHA:363400 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... |
OMIM:608600 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... |
ORPHA:528 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... |
OMIM:232700 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... |
OMIM:615381 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:66628 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperpla... |
ORPHA:276556 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... |
ORPHA:179494 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Increased intramuscular fat, Hyperinsulinemia, Loss of truncal subcutaneous... |
OMIM:151660 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... |
ORPHA:99886 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
Perlman Syndrome |
|
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... |
ORPHA:2849 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... |
ORPHA:79644 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Loss... |
ORPHA:79083 |
Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... |
ORPHA:97279 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
Mandibuloacral Dysplasia |
|
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L... |
ORPHA:2457 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... |
ORPHA:263455 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... |
ORPHA:79237 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... |
ORPHA:2348 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Precocious puberty, Hyperglyc... |
OMIM:262190 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Panniculitis, Hepat... |
ORPHA:79086 |
Insulin-Resistance Syndrome Type B |
|
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... |
ORPHA:2298 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... |
ORPHA:79319 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... |
OMIM:608594 |
Obesity |
|
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure |
OMIM:601665 |
Donohue Syndrome |
|
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... |
OMIM:246200 |
Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Lipoatrophy, Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis, Loss of subcuta... |
ORPHA:280365 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
OMIM:274300 |
Acute Lung Injury |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... |
ORPHA:178320 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... |
OMIM:269700 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal blood gas level, Hypoxemia, Abnormal ... |
ORPHA:70578 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... |
ORPHA:436182 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... |
ORPHA:94086 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f... |
OMIM:602579 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... |
ORPHA:785 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Decreased serum leptin, Hypogonadism |
OMIM:614962 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... |
OMIM:613327 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca... |
OMIM:608612 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:69663 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... |
ORPHA:890 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... |
OMIM:617253 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... |
OMIM:600955 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Increased adipose tissue around the neck, L... |
OMIM:248370 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... |
OMIM:615363 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance |
ORPHA:199276 |
Short Syndrome |
|
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... |
OMIM:269880 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... |
OMIM:214150 |
Bangstad Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... |
ORPHA:1227 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
OMIM:615954 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hypogonadism, Insulin resistance, Hypoglycemia, Truncal obesity, Small for ges... |
ORPHA:73272 |
Aromatase Deficiency |
|
Tall stature, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Eunuch... |
ORPHA:91 |
X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... |
ORPHA:300373 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... |
ORPHA:71212 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Short Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... |
ORPHA:3163 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... |
OMIM:615830 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Elevated circulating C-r... |
ORPHA:158061 |
Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyroidism, Impaired se... |
OMIM:614450 |
Laurence-Moon Syndrome |
|
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus |
ORPHA:2377 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Diabetes mellitus, Hypogonadism |
OMIM:615981 |
Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased b... |
ORPHA:1501 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... |
OMIM:609734 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
ORPHA:189427 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, El... |
OMIM:203800 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... |
OMIM:616222 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... |
OMIM:615630 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Enlarged ovaries, Impaired glucose tole... |
ORPHA:769 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
Bardet-Biedl Syndrome 1 |
|
Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Insulin resistance, Hypogonad... |
OMIM:209900 |
Leprechaunism |
|
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Inc... |
ORPHA:508 |
Werner Syndrome |
|
Lipoatrophy, Thyroid carcinoma, Slender build, Lipodystrophy, Hypogonadism, Type II diabetes mell... |
ORPHA:902 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity, Hepatic steatosis |
ORPHA:96168 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu... |
ORPHA:540 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Hypothyroidism, Splenomegaly, Insulin resistance |
ORPHA:3452 |
Dietary Iron Overload Disease |
|
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... |
ORPHA:139507 |
Leptin Receptor Deficiency |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... |
OMIM:614963 |
Silver-Russell Syndrome |
|
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... |
ORPHA:813 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... |
OMIM:606721 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... |
ORPHA:264580 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... |
OMIM:616026 |
Wilson Disease |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... |
ORPHA:905 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... |
ORPHA:254516 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:619755 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism |
OMIM:610628 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Hypothyroidism, Insulin resistance, Diabetes mellitus, Truncal obesity |
OMIM:616541 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... |
ORPHA:2234 |
Prader-Willi Syndrome |
|
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... |
OMIM:176270 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... |
ORPHA:79240 |
Nephronophthisis 15 |
|
Obesity, Elevated circulating hepatic transaminase concentration |
OMIM:614845 |
Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Hepatomegaly, Hypercholesterolemia, Acute pancreatitis, Hypoth... |
ORPHA:412 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Insulin resistance, Generalized lipodystrophy, Hyperlipidemia |
ORPHA:90154 |
Bangstad Syndrome |
|
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... |
OMIM:210740 |
Solitary Fibrous Tumor |
|
Pelvic mass, Abnormal peritoneum morphology, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia... |
ORPHA:2126 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Congen... |
ORPHA:226313 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Hypothyroidism, Obesity, Abnormality of the thyroid gland, D... |
ORPHA:77296 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Hypogonadism |
OMIM:617119 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Obesity, Type II diabetes mellitus |
OMIM:618620 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperglycemia, Type II diabetes mellitus, Abdominal o... |
OMIM:615812 |
Atypical Werner Syndrome |
|
Lipoatrophy, Delayed puberty, Neoplasm of the thyroid gland, Generalized lipodystrophy, Hyperinsu... |
ORPHA:79474 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Maternal diabetes |
ORPHA:45452 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... |
ORPHA:99832 |
Biemond Syndrome Type 2 |
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Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism |
ORPHA:141333 |
Marbach-Rustad Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:542323 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ... |
ORPHA:96184 |
Dopamine Beta-Hydroxylase Deficiency |
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Insulin resistance, Hypoglycemia, Hyperinsulinemia |
ORPHA:230 |
Senior-Loken Syndrome 9 |
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Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism |
OMIM:616629 |
Narcolepsy 7 |
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Obesity, Type II diabetes mellitus |
OMIM:614250 |
Bardet-Biedl Syndrome 6 |
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Obesity, Diabetes mellitus |
OMIM:605231 |
Gitelman Syndrome |
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Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Failure to thrive, ... |
ORPHA:358 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Hep... |
ORPHA:209902 |
Bloom Syndrome |
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Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
Pancreatic Agenesis 1 |
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Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ... |
OMIM:260370 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... |
ORPHA:96182 |
Pseudohypoparathyroidism, Type Ib |
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Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level |
OMIM:603233 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Abnormal circulating interleukin concentration, Elevated circulating C-reactive protein concentra... |
ORPHA:85435 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Sweet Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:3243 |
Woodhouse-Sakati Syndrome |
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Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... |
ORPHA:3464 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Interstitial Cystitis |
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Abnormality of tumor necrosis factor secretion, Elevated circulating C-reactive protein concentra... |
ORPHA:37202 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Rett Syndrome |
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Increased serum leptin, Failure to thrive, Cholecystitis |
ORPHA:778 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99413 |
Turner Syndrome |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:881 |
Mosaic Monosomy X |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99228 |
Monosomy X |
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Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... |
ORPHA:99226 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
Pituitary Adenoma 4, Acth-Secreting |
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Impaired glucose tolerance, Obesity, Pituitary adenoma, Increased circulating ACTH level, Abdomin... |
OMIM:219090 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
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Increased body weight |
ORPHA:589905 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Increased body weight, Hypercholesterolemia, Abnormality of the thyroid gland |
OMIM:182290 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... |
ORPHA:158057 |
Bardet-Biedl Syndrome |
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Hypertriglyceridemia, Childhood-onset truncal obesity, Impaired fasting glucose, Elevated circula... |
ORPHA:110 |
Pseudohypoparathyroidism, Type Ic |
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Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... |
OMIM:612462 |
Thalidomide Embryopathy |
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Insulin resistance |
ORPHA:3312 |
Macrocephaly/Autism Syndrome |
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Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly |
OMIM:605309 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... |
ORPHA:26793 |
Keppen-Lubinsky Syndrome |
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Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... |
OMIM:614098 |
Liver Disease, Severe Congenital |
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Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega... |
OMIM:619991 |
Steinert Myotonic Dystrophy |
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Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... |
ORPHA:273 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Sotos Syndrome |
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Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundi... |
OMIM:117550 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Abnormal circulating interleukin concentration |
ORPHA:319552 |
Perrault Syndrome 4 |
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Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre... |
OMIM:615300 |
Nestor-Guillermo Progeria Syndrome |
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Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture |
OMIM:614008 |
Joubert Syndrome 8 |
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Prolonged neonatal jaundice, Obesity, Hepatomegaly |
OMIM:612291 |
Cushing Disease |
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Increased body weight, Increased urinary cortisol level, Impaired glucose tolerance, Adrenal hype... |
ORPHA:96253 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age |
ORPHA:254534 |
Alström Syndrome |
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Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... |
ORPHA:64 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration |
ORPHA:85410 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... |
ORPHA:2235 |
Magel2-Related Prader-Willi-Like Syndrome |
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Premature pubarche, Small pituitary gland, Increased body weight, Central hypothyroidism, Failure... |
ORPHA:398069 |
New-Onset Refractory Status Epilepticus |
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Abnormal circulating interleukin concentration |
ORPHA:363558 |
Perlman Syndrome |
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Congenital diaphragmatic hernia, Large for gestational age, Visceromegaly, Ascites, Hypoglycemia,... |
OMIM:267000 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... |
ORPHA:99889 |
Congenital Analbuminemia |
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Hyperlipidemia, Obesity, Lipodystrophy, Hypercholesterolemia, Small for gestational age |
ORPHA:86816 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Increased circulating renin level, Obesity, Diabetes mellitus, Overweight, ... |
ORPHA:90041 |
Sheehan Syndrome |
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Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... |
ORPHA:91355 |
Hutchinson-Gilford Progeria Syndrome |
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Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... |
ORPHA:740 |
Intrahepatic Cholestasis Of Pregnancy |
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Hyperbilirubinemia, Abnormal circulating interleukin concentration, Increased serum bile acid con... |
ORPHA:69665 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight |
OMIM:300860 |
Pmm2-Cdg |
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Abnormal subcutaneous fat tissue distribution, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:79318 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Precocious puberty, Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta |
OMIM:619269 |
Beckwith-Wiedemann Syndrome |
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Congenital diaphragmatic hernia, Tall stature, Enlarged kidney, Splenomegaly, Umbilical hernia, C... |
ORPHA:116 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... |
ORPHA:79124 |
Aregenerative Anemia |
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Abnormal circulating interleukin concentration |
ORPHA:101096 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Carney Complex |
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Thyroid carcinoma, Tall stature, Increased circulating insulin-like growth factor 1 concentration... |
ORPHA:1359 |
Autoimmune Lymphoproliferative Syndrome |
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Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr... |
ORPHA:3261 |
Hellp Syndrome |
|
Increased body weight, Elevated circulating hepatic transaminase concentration |
ORPHA:244242 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Peritonitis |
ORPHA:2968 |