Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity,... |
ORPHA:71529 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... |
OMIM:610947 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... |
ORPHA:71526 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Smal... |
ORPHA:324575 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... |
OMIM:612526 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus |
OMIM:613877 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:66628 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:179494 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... |
OMIM:609734 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... |
OMIM:610717 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Focal pancreatic islet ... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... |
ORPHA:276580 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hirsutism, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholest... |
OMIM:604367 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... |
ORPHA:436182 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... |
OMIM:616516 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... |
OMIM:616222 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... |
OMIM:605814 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... |
ORPHA:528 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity |
OMIM:614962 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... |
OMIM:222100 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Hirsutism... |
OMIM:151660 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia |
ORPHA:369873 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Hypertriglyceri... |
OMIM:615381 |
Temple Syndrome |
|
Type II diabetes mellitus, Small for gestational age, Polyphagia, Recurrent hypoglycemia, Obesity... |
ORPHA:254516 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Hirsutism, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intr... |
OMIM:608594 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Leptin Receptor Deficiency |
|
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... |
OMIM:614963 |
Growth Hormone Insensitivity Syndrome |
|
Fine hair, Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failu... |
ORPHA:181393 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hirsutism, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Reduced intr... |
OMIM:269700 |
Macrosomia Adiposa Congenita |
|
Obesity, Adrenocortical adenoma, Polyphagia, Large for gestational age |
OMIM:248100 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
Obesity |
|
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio |
OMIM:601665 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypergonadotropic hypogonadism, Failure to thrive, Long eyelashes, Neonatal hypoglyce... |
OMIM:606407 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... |
OMIM:278000 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Short Stature Due To Ghsr Deficiency |
|
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Decreased... |
ORPHA:314811 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Dysphagia, Hirsutism, Insulin resistance, Elevated circulating creatine kinase conc... |
OMIM:613327 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... |
ORPHA:369 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... |
ORPHA:95427 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... |
OMIM:300635 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia |
ORPHA:177910 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:370 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... |
OMIM:232400 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:613101 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, El... |
OMIM:619013 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... |
ORPHA:264580 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... |
ORPHA:444490 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity |
OMIM:615986 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... |
ORPHA:79240 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Thick... |
OMIM:615547 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... |
ORPHA:2089 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Polyphagia, Decreased body mass index, Choking ep... |
ORPHA:399 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Hypertriglyceridemia, Hypothyroidism, Hypoalbu... |
OMIM:617575 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Goiter, Graves disease, Polyphagia |
OMIM:275000 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly |
OMIM:618398 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Hypopigmentation of hair, Polyphagia |
ORPHA:411515 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
6Q16 Microdeletion Syndrome |
|
Obesity, Thick eyebrow, Polyphagia |
ORPHA:171829 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98855 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Increased circulating T4 level, Polydipsia, Polyphagia, Failure to thrive, Goiter, ... |
ORPHA:525731 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Abnormality of body weight, ... |
ORPHA:2298 |
Renal Glucosuria |
|
Polyphagia, Glycosuria, Polydipsia |
OMIM:233100 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... |
ORPHA:99886 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Panniculitis, Lipodystrophy, Splenomegaly, Hypertriglyceridemia,... |
OMIM:617591 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... |
ORPHA:158057 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weig... |
OMIM:182290 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... |
ORPHA:261 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Polyphagia,... |
ORPHA:300373 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... |
ORPHA:98793 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Multiple lipomas, Spleno... |
ORPHA:1414 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Cebalid Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... |
OMIM:267700 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... |
ORPHA:177901 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Man1B1-Cdg |
|
Polyphagia, Long eyelashes, Sparse eyebrow, Truncal obesity, Abnormal position of hair whorl, Lon... |
ORPHA:397941 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... |
ORPHA:158061 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Polyphagia, Fai... |
ORPHA:398073 |
Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma |
OMIM:150800 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... |
ORPHA:71212 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... |
ORPHA:398079 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... |
OMIM:202200 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:255120 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... |
ORPHA:90970 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Central hypothyroidism, Polydipsia, Polyphagia, Hyperglycemia, Hyperlipidemia, Prem... |
ORPHA:293987 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:567548 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
2Q23.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Generalized hirsutism, Polyphagia, Synophrys |
ORPHA:228402 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... |
OMIM:617156 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Alopecia, Micronodular cirrhosi... |
ORPHA:98907 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Spleno... |
OMIM:603553 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... |
OMIM:619418 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Failure to thrive, Premature a... |
ORPHA:739 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Polyphagia, Hypog... |
OMIM:176270 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Hirsutism, Type II diabetes mellitus, Hype... |
ORPHA:189439 |
H Syndrome |
|
Hypertrichosis, Alopecia, Lipodystrophy, Hernia, Abnormal eyebrow morphology, Hypogonadism, Hepat... |
ORPHA:168569 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absence of pube... |
ORPHA:398069 |
Griscelli Syndrome Type 1 |
|
White hair, Premature graying of hair, Hyperlipidemia |
ORPHA:79476 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obes... |
ORPHA:251004 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased serum insulin-like growth factor 1, Polyphagia, Pituitary adenoma, Hypopituitarism, Ele... |
OMIM:300942 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... |
ORPHA:540 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Obesity... |
ORPHA:819 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Cachexia, Hepatic fibrosis, Failure... |
ORPHA:275761 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the intrahepatic bile duct, Absent eyebrow, Absent eyelashes, Hypercholesterolemia... |
ORPHA:363618 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Elevated circulating creatine kinase concentration, Hypogonadotropic hypog... |
ORPHA:261476 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Cholestasis, Adre... |
OMIM:201400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceridemia, Hyp... |
OMIM:619313 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... |
ORPHA:263455 |
Trisomy 18P |
|
Highly arched eyebrow, Polyphagia |
ORPHA:1715 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
Luscan-Lumish Syndrome |
|
High anterior hairline, Obesity, Hirsutism, Polyphagia |
OMIM:616831 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... |
ORPHA:633 |
Gaisböck Syndrome |
|
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Overweight, Hypertriglyceridemia,... |
ORPHA:90041 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79444 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circulating cortisol ... |
OMIM:618838 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatocellular ca... |
ORPHA:79259 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... |
ORPHA:54595 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Hyperalaninemia, Decreased liver function, Hyperammonemi... |
OMIM:615160 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... |
ORPHA:199296 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... |
ORPHA:470 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... |
ORPHA:98908 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Long eyelashes, Thick eyebrow, Obesity, Synophrys |
ORPHA:289522 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Gangliocytoma |
|
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Pituitary prolactin cel... |
ORPHA:251937 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Thick eyebrow, Polyphagia |
OMIM:156200 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79443 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Adipose tissue loss, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:256040 |
Methanol Poisoning |
|
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia |
ORPHA:31825 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Atypical Werner Syndrome |
|
Abnormal hair morphology, Insulin-resistant diabetes mellitus, White forelock, Fasting hyperinsul... |
ORPHA:79474 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Hyperammonemia... |
OMIM:212140 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, ... |
ORPHA:79477 |
Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity, Diabetes mellitus |
OMIM:229300 |
Angelman Syndrome |
|
Dysphagia, Precocious puberty in females, Polyphagia, Obesity, Delayed menarche, Fair hair |
ORPHA:72 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia |
OMIM:256300 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia |
OMIM:610644 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Umbilical hernia, Alopecia, Inguinal hernia, Hypertriglyceridemia, Diabetes mellitus, Ventral her... |
ORPHA:536532 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor... |
ORPHA:77293 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Postp... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Nail dystrophy, Alopeci... |
ORPHA:90154 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism, Hypocalcemia |
OMIM:618183 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Hypoglycemia, Elevated circulating creatine kinase concentration, Decre... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Hypoglycemia, Elevated circulating creatine kinase concentration, Decre... |
OMIM:618839 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Sparse hair, Polyphagia |
ORPHA:251028 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Adrenocortical adenoma, Hypoglycemia, Increased circulating cortisol level, Insuli... |
OMIM:131100 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... |
ORPHA:26793 |
7Q11.23 Microduplication Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia, Long eyelashes, Horizontal eyebrow, Sparse anterior ... |
ORPHA:96121 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Androgen insufficiency, Hypoglycemia, Decreased circul... |
ORPHA:95409 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... |
ORPHA:158048 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Ventricular septal defect, Insulin resi... |
ORPHA:769 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Nail dystrophy, Glucose intolerance, Sparse eyebrow, Generalized lipodystrophy, Mac... |
OMIM:619127 |
Wiedemann-Rautenstrauch Syndrome |
|
Broad eyebrow, Dysphagia, Sparse eyelashes, Increased serum testosterone level, Failure to thrive... |
OMIM:264090 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... |
ORPHA:157 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Failure to thrive, Papillary thyroid car... |
OMIM:118450 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, Hepatic steatos... |
ORPHA:91 |
Adnp Syndrome |
|
Hirsutism, High anterior hairline, Polyphagia, Inguinal hernia, Truncal obesity, Oral-pharyngeal ... |
ORPHA:404448 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Hypertriglyceridemia |
ORPHA:31150 |
Addison Disease |
|
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Increased cir... |
ORPHA:85138 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin syst... |
ORPHA:90790 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia... |
OMIM:232200 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Failure to thrive, Depletion of mitochondria... |
OMIM:251880 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypokalemia, Small for gestational age, Hepatic steatosis, Elevated circulating ala... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia |
OMIM:615538 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Splenomegaly, Decreased liver function, Increased circulating ferr... |
ORPHA:167 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, He... |
ORPHA:199299 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia... |
OMIM:232220 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypoparathyroidism, Hypertriglyceridemia, Obesity, Precocious puberty |
ORPHA:369837 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Weakness of the intrinsic hand muscles, Diabetic ketoacidosis, Tibialis muscle weakness, Intrinsi... |
OMIM:302900 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Generalized hirsutism, Hyp... |
ORPHA:254346 |
Alström Syndrome |
|
Hirsutism, Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating horm... |
ORPHA:64 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Dysphagia, Polyphagia, Annular pancreas, Failure to thrive, Abnormal e... |
ORPHA:1606 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... |
ORPHA:228308 |
Mpi-Cdg |
|
Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Precociou... |
OMIM:614736 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Decreased serum insulin-like growth factor 1, Hyperlipidemia, Hypogonadotropic hypogon... |
OMIM:241080 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Flex... |
ORPHA:90153 |
Rett Syndrome |
|
Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis, Increased serum pyruvate |
ORPHA:778 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... |
ORPHA:786 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminot... |
OMIM:617049 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Impaired oral bolus formation, Hepatomegaly, Microvesicular hepatic steatosis, Limb joint contrac... |
ORPHA:404454 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia |
OMIM:607485 |
Sheehan Syndrome |
|
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Hashimoto thyroiditis, Abnormal size o... |
ORPHA:91355 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Hepatoblastoma, Hyperuricem... |
OMIM:232240 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Hirsutism, Slender build, Lipoatrophy, Camptodactyly of finge... |
ORPHA:3455 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased response to growth h... |
ORPHA:3464 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia |
ORPHA:439232 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Pancreatitis, S... |
ORPHA:565612 |
X-Linked Lymphoproliferative Disease |
|
Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreased liver function, Increased circulat... |
ORPHA:2442 |
Leprechaunism |
|
Hypertrophic cardiomyopathy, Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Re... |
ORPHA:508 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277400 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Failure to thrive, Nail dystrophy, Alopecia, Sparse scalp hair, Lipoatrophy, De... |
OMIM:614008 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Hyperlipidemia, Failure to thrive, Abnormality of thyroid physiology, ... |
ORPHA:1830 |
Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dysphagia, Congenital hypothyroidism, Abnormality of the hairline, Polyphagia, Horizontal eyebrow... |
OMIM:607872 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia |
OMIM:235400 |
Friedreich Ataxia And Congenital Glaucoma |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:229310 |
Early-Onset Schizophrenia |
|
Polyphagia |
ORPHA:96369 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Insulin resistance, ... |
ORPHA:273 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Hypertyrosinemia, Spleno... |
OMIM:276700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... |
ORPHA:99413 |
Turner Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... |
ORPHA:881 |
Monosomy X |
|
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... |
ORPHA:99226 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Type II diabetes mellitus, Glucose intolerance, High urinary gonadotropin ... |
ORPHA:99228 |
Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic fingernails, Dystrophic toenail, Insulin resistance, Absence of subcutaneous fat, Alop... |
ORPHA:740 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Recurrent hypoglycemia, Hypoinsulinemia, Hypoglycemia |
ORPHA:2126 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Diabetes insipidus, Delayed puberty, Hyperlipidemia |
ORPHA:324 |
Homozygous Familial Hypercholesterolemia |
|
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia |
ORPHA:391665 |
Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Insulin resistance, Hypogonadotr... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |