Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... |
OMIM:612526 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Decreased adiponectin lev... |
ORPHA:435660 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increa... |
ORPHA:79085 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Loss... |
OMIM:604367 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... |
ORPHA:276556 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... |
OMIM:609734 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:145750 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Loss of gluteal subcutan... |
ORPHA:435651 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... |
ORPHA:2457 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hypertrichosis,... |
ORPHA:528 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity |
OMIM:614962 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... |
OMIM:151660 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Diabetes mellitus, Hyper... |
OMIM:222100 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... |
OMIM:613027 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... |
OMIM:615381 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Diabetes ... |
ORPHA:181393 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Temple Syndrome |
|
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... |
OMIM:614963 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:269700 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Insulin resistance,... |
ORPHA:79083 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Hypertr... |
ORPHA:2348 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... |
OMIM:603552 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... |
ORPHA:369 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... |
ORPHA:2088 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Steatorrhea, Low plasma citrulline, Cholestasis, Abnormal blood ion concentrat... |
ORPHA:95427 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:300635 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... |
ORPHA:79086 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... |
ORPHA:280365 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergona... |
OMIM:606407 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation of hair, Obesity |
ORPHA:177910 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... |
OMIM:613327 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:232400 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... |
ORPHA:370 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... |
OMIM:275000 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbu... |
OMIM:619013 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Hepatosplenomegaly, Acute pancreatitis,... |
ORPHA:444490 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly |
OMIM:613101 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula... |
ORPHA:264580 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... |
ORPHA:2089 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Elevated circ... |
ORPHA:79240 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Huntington Disease |
|
Decreased body mass index, Polyphagia, Abnormal circulating cholesterol concentration, Weight los... |
ORPHA:399 |
Schaaf-Yang Syndrome |
|
Thick eyebrow, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita... |
OMIM:615547 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... |
OMIM:617575 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly, Panniculitis |
OMIM:618398 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Polyphagia, Hypopigmentation of hair |
ORPHA:411515 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia, Thick eyebrow |
ORPHA:171829 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98855 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... |
ORPHA:2298 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Splenomegaly, Increased circulating ... |
ORPHA:525731 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... |
OMIM:615947 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... |
OMIM:203800 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodys... |
OMIM:617591 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypertriglyceridemia, Synophrys, Hypercholesterolemia, Increase... |
OMIM:182290 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98863 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:261 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98754 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98793 |
Cebalid Syndrome |
|
Polyphagia, Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia |
OMIM:618774 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177901 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... |
OMIM:267700 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Polyphagia, Long eyelashes, Lon... |
ORPHA:397941 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... |
OMIM:202200 |
Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Prader-Willi-Like Syndrome |
|
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... |
ORPHA:398073 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity, Cutaneous leiomyosarcoma, Uterine leiomyosarcoma |
OMIM:150800 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... |
OMIM:277700 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398079 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopecia... |
OMIM:608612 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Primary Lipodystrophy |
|
Hyperlipidemia, Lipoatrophy, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Li... |
ORPHA:90970 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
2Q23.1 Microdeletion Syndrome |
|
Generalized hirsutism, Polyphagia, Highly arched eyebrow, Synophrys |
ORPHA:228402 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Sparse scalp hair, Failure to thrive, S... |
OMIM:606721 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Alopecia, Abnormal circulating creatine kinase concentratio... |
ORPHA:98907 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Hyperlipidemia, Adrenocorticotropic hormone deficiency, Decreased response to growth ... |
ORPHA:293987 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... |
ORPHA:398069 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... |
OMIM:603553 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189439 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... |
ORPHA:739 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair |
ORPHA:79476 |
H Syndrome |
|
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Hepatosplenomegaly, Camptodactyly, Hypertr... |
ORPHA:168569 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Synophrys, Delayed puberty, Hypercholes... |
ORPHA:819 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Polyphagia, Delayed puberty, Hypercalcemia, Obesity, Abnormal dent... |
ORPHA:251004 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Steatorrhea, Hepat... |
ORPHA:275761 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... |
OMIM:248370 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Hypertriglyceridemia, Absent eyel... |
ORPHA:363618 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concen... |
ORPHA:261476 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus, Hyp... |
OMIM:619313 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Hyperinsulinemia, Type II diabetes mellitus, Precocious... |
OMIM:176270 |
Trisomy 18P |
|
Polyphagia, Highly arched eyebrow |
ORPHA:1715 |
Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... |
OMIM:201400 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... |
ORPHA:552 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Laron Syndrome |
|
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest... |
ORPHA:633 |
Luscan-Lumish Syndrome |
|
Hirsutism, Polyphagia, Obesity, High anterior hairline |
OMIM:616831 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... |
ORPHA:90041 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Thyroiditis, Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic gly... |
ORPHA:79259 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618838 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79444 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Thick eyebrow, Long eyelashes, Synophrys, Obesity |
ORPHA:289522 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... |
ORPHA:54595 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... |
OMIM:615160 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... |
ORPHA:98908 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Wh... |
ORPHA:79474 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Hypon... |
ORPHA:199296 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... |
ORPHA:567983 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Oral aversion, Hepatomegaly, Steatorr... |
ORPHA:470 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... |
OMIM:300942 |
Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity, Diabetes mellitus |
OMIM:229300 |
Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
Gangliocytoma |
|
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... |
ORPHA:251937 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Flexion contracture of finger, Elevated circulating C-reactive protein concentrat... |
OMIM:256040 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... |
OMIM:212140 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Decreased response to growth hormone stimulation test, Reduced circulating prolacti... |
ORPHA:79443 |
Angelman Syndrome |
|
Precocious puberty in females, Fair hair, Delayed menarche, Polyphagia, Dysphagia, Obesity |
ORPHA:72 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia |
OMIM:256300 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... |
ORPHA:785 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, ... |
ORPHA:79477 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly |
OMIM:619802 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Inguinal hernia, Alopecia, Widened atrophic scar, Hypertriglyceridemia, Ventral herni... |
ORPHA:536532 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia |
OMIM:610644 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, In... |
ORPHA:77293 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thick eyebrow, Polyphagia, Long eyelashes, Highly arched eyebrow, Low posterior hairline |
OMIM:156200 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Alopecia, Generalized lipodystrophy, Delayed puberty, Nail dy... |
ORPHA:90154 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Sparse eyebrow, Alopecia, Sparse eyelashes, Hypoketotic hypoglycemia, Increase... |
OMIM:610768 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Decreased liver function, Elevated circulating creatine kin... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Decreased liver function, Elevated circulating creatine kin... |
OMIM:618839 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Fine hair, Polyphagia, Sparse hair |
ORPHA:251028 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketot... |
ORPHA:26793 |
Weaver Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Sparse hair, Camptodactyly, Polyphagia, Fine hair... |
OMIM:277590 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Increased circ... |
OMIM:131100 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Hepatomegaly, Sparse hair, Flexion contracture, Sparse eyebrow, Elevated hem... |
OMIM:619127 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Sparse axillary hair, Decreased circu... |
ORPHA:95409 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Polyphagia, Horizontal eyebrow, Long eyelashes,... |
ORPHA:96121 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hypoglycemia, Elevated hepa... |
OMIM:232200 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Atrial septal... |
ORPHA:769 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hyperproteinemia, Hyper... |
ORPHA:158048 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:157 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Obesity, Polyphagia |
OMIM:612469 |
Aromatase Deficiency |
|
Generalized hirsutism, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hypergonadot... |
ORPHA:91 |
Adnp Syndrome |
|
Sparse scalp hair, Hirsutism, Inguinal hernia, Truncal obesity, Polyphagia, Umbilical hernia, Hig... |
ORPHA:404448 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... |
OMIM:251880 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy, Hepatosplenomegaly |
ORPHA:31150 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Alagille Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failur... |
OMIM:118450 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia |
OMIM:615538 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Intrinsic hand muscle atrophy, Decreased pyruvate carboxylase activity, Diabetic ketoacidosis, Fo... |
OMIM:302900 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hypoproteinemia, Splenome... |
ORPHA:167 |
19P13.12 Microdeletion Syndrome |
|
Generalized hirsutism, Precocious puberty, Hyperlipidemia, Hypothyroidism, Synophrys, Arthrogrypo... |
ORPHA:254346 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Hepatic failure... |
OMIM:619573 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... |
ORPHA:228308 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia, Obesity |
ORPHA:369837 |
1P36 Deletion Syndrome |
|
Annular pancreas, Abnormal eyebrow morphology, Generalized hirsutism, Failure to thrive, Camptoda... |
ORPHA:1606 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... |
ORPHA:64 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... |
OMIM:614736 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Decreased serum testosterone concentration, Sparse hair, Alopecia, Hypergonadotro... |
OMIM:241080 |
Rett Syndrome |
|
Failure to thrive, Hyperammonemia, Increased serum pyruvate, Increased serum leptin, Cholecystitis |
ORPHA:778 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevat... |
OMIM:617049 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Hyperlipidemia, Flexion contracture, Alopecia, Breast aplasia, Absen... |
ORPHA:90153 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Increased serum testosterone level, Sparse scalp hair, Failu... |
OMIM:264090 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Hirsutism, Increased ci... |
ORPHA:786 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Impaired oro... |
ORPHA:404454 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia |
OMIM:607485 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers |
ORPHA:255210 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse hair, Increased circulating prolactin concentration, ... |
ORPHA:3455 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus |
ORPHA:439232 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Hepatomegaly, Pancreatitis, Splenomegaly, Elevated circulating creatine kinase co... |
ORPHA:565612 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... |
ORPHA:3464 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... |
ORPHA:2442 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Leprechaunism |
|
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Increased circulating renin lev... |
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 |
|
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Large fo... |
OMIM:616026 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:277400 |
Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Failure to thrive, Lipoatrophy, Flexion contracture, Alopecia, Sparse eyebrow,... |
OMIM:614008 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Congenital hypothyroidism, Camptodactyly, Hypothyroidism, Polyphagia, Ho... |
OMIM:607872 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Hyperlipidemia, Pancreatitis, Small for gestational age, Abnormality of thyroi... |
ORPHA:1830 |
Friedreich Ataxia And Congenital Glaucoma |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:229310 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Early-Onset Schizophrenia |
|
Polyphagia |
ORPHA:96369 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Bicuspid aortic valve, Hyperinsulinemia, Type II diabetes mellitus, Atrial s... |
ORPHA:99226 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Patchy alopecia, Severe failure to thrive, Delayed menarche, Pubertal development... |
ORPHA:740 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Liver Disease, Severe Congenital |
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Hyperinsulinemic hypoglycemia, Atrial septal defect, Ventricular septal defect, Subvalvular aorti... |
OMIM:619991 |
Fabry Disease |
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Diabetes insipidus, Hyperlipidemia, Delayed puberty, Abnormal circulating lipid concentration |
ORPHA:324 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Pmm2-Cdg |
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Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonadotropic hypogonadis... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |