Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistance, Oligosper... |
OMIM:615703 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hypothermia, Hepatomegaly, Micronodular cirrhosis, Pe... |
OMIM:251880 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... |
OMIM:610947 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... |
OMIM:604367 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypothermia, Hypertaurinemia, Elevated circulating aspartate aminotransferase ... |
OMIM:245400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... |
ORPHA:79085 |
Temple Syndrome |
|
Recurrent otitis media, Flexion contracture, Small for gestational age, Maturity-onset diabetes o... |
OMIM:616222 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... |
ORPHA:435651 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:619386 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... |
ORPHA:528 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi... |
ORPHA:352470 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hepatomegaly, Hepatic failure, Hyp... |
ORPHA:159 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Hepatomegaly, Foll... |
OMIM:300635 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... |
OMIM:618528 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Mildly elevated creatine kinase |
ORPHA:457050 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia |
OMIM:615026 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hor... |
ORPHA:95717 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology |
OMIM:300438 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... |
ORPHA:95716 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hepatomegaly, Jaundice, Ski... |
OMIM:603552 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:619048 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Inflammatory abnormality of the skin, Hepatomegaly, Hypocalcemia, Hypoproteinemia, H... |
ORPHA:26793 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... |
OMIM:606069 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance, Cirrhosis, Maternal di... |
ORPHA:79083 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... |
OMIM:615381 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodystrophy, Hypertriglyceri... |
ORPHA:2348 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Elevat... |
OMIM:212140 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Failure to thrive, Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestati... |
ORPHA:226313 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-Co... |
ORPHA:71212 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
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 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... |
ORPHA:79086 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Colitis, Splenomegaly, Hepa... |
OMIM:613101 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Pancreatitis, Hepa... |
ORPHA:280365 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia, Decreased activity of mitochondrial complex IV, Patent ductus arteriosus |
OMIM:616501 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Failure to thrive, Hypothermia, Macrovesicular hepatic steatosis, Hypog... |
OMIM:618329 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Fever, Abnormality of the perit... |
ORPHA:2126 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189439 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Nephritis, Hyperinsulinemia, Otitis media, Hypergonadotro... |
OMIM:203800 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia, Decreased thyroid-stimulating hormone level, Prolonged neonatal j... |
ORPHA:90674 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated ci... |
OMIM:613327 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hypothermia, Hepatomegaly, Flexion contracture, Abnormal mitochondrial shape, ... |
ORPHA:17 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Permanent Congenital Hypothyroidism |
|
Hypothermia, Thyroid dysgenesis, Hypothyroidism, Umbilical hernia, Goiter, Jaundice |
ORPHA:226292 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... |
ORPHA:2088 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increas... |
ORPHA:90673 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Li... |
ORPHA:90970 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:269700 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula... |
ORPHA:264580 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Recurrent fever, Failure to thrive, Sinusitis, Hepatomegaly, Skin rash, Splenomegaly, Flexion con... |
OMIM:617591 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia, Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 c... |
ORPHA:226316 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circ... |
ORPHA:370 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number |
OMIM:619063 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Fever, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Acute pancre... |
ORPHA:20 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... |
OMIM:201475 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, G... |
ORPHA:412 |
Congenital Enterovirus Infection |
|
Hypothermia, Fever, Skin rash, Hepatic failure, Hyperammonemia, Myocarditis, Cholestasis, Hepatit... |
ORPHA:292 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating ... |
ORPHA:230 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... |
ORPHA:369 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Spontaneous Periodic Hypothermia |
|
Hypothermia, Skin rash |
ORPHA:29822 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Hypoglycemia, Elevated circulatin... |
OMIM:261680 |
H Syndrome |
|
Recurrent fever, Hepatosplenomegaly, Camptodactyly, Chronic rhinitis, Lipodystrophy, Hypertriglyc... |
ORPHA:168569 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... |
ORPHA:444490 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hypoglycemia, Hepatocellul... |
ORPHA:79240 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... |
ORPHA:276556 |
Porphyria Cutanea Tarda |
|
Corneal scarring, Increased circulating ferritin concentration, Recurrent bacterial skin infectio... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Decreased activit... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Fever, Hepatomegaly, Elev... |
ORPHA:158061 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbu... |
OMIM:619013 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Fever, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... |
ORPHA:99901 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia, Fever, Hyperlipidemia, Adrenocorticotropic hormone deficiency, Decreased response to... |
ORPHA:293987 |
Meningococcal Meningitis |
|
Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Skin rash, Infectious ... |
ORPHA:33475 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... |
OMIM:617253 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Umbilical hernia, Prolonged neon... |
ORPHA:226307 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Fever, Splenomegaly, Hypertriglyceridemia, Pannicul... |
OMIM:618398 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypothermia, Fever, Abnormality of temperature regulation, Elbow flexion contrac... |
OMIM:618493 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98855 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Recurrent fever, Fever, Hepatome... |
OMIM:603553 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Fever, Cholestatic liver ... |
ORPHA:540 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Congenital Hypothyroidism |
|
Hypothermia, Sinusitis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dy... |
ORPHA:442 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Menkes Disease |
|
Hypothermia, Decreased circulating ceruloplasmin concentration |
OMIM:309400 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Abnormality of the mitochondrion, Cyanosis |
ORPHA:91130 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98863 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98853 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... |
OMIM:614921 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Fever, Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty aci... |
OMIM:608836 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypothermia, Elevated circulating creatine kinase concentration, Small for gestat... |
OMIM:618775 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... |
OMIM:256810 |
Ddost-Cdg |
|
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... |
ORPHA:300536 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Decreased mit... |
ORPHA:352447 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant hepatic failure, Hypoketotic hypoglyce... |
OMIM:231530 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia |
OMIM:182290 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:232400 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... |
OMIM:201450 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Decreased liver function, Decreased activity of mitochondrial complex IV, Hepa... |
ORPHA:70472 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... |
OMIM:617575 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:228308 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
OMIM:256040 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Decreased serum leptin, Recurrent pneumonia, Hypogonadism |
OMIM:614962 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Reticular Dysgenesis |
|
Failure to thrive, Fever, Skin rash, Chronic otitis media, Aplasia/Hypoplasia of the thymus, Weig... |
ORPHA:33355 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... |
OMIM:267700 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Fever, Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminem... |
ORPHA:567548 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hypothermia, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitole... |
ORPHA:79282 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity |
ORPHA:791 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Glycosur... |
OMIM:231680 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Cirrhosis, Cachexia, Hypogonadotropic hypogonadism, Macrovesicula... |
ORPHA:298 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Inter... |
OMIM:223360 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Fever, Colitis, Enterocolitis, Recurrent skin infec... |
OMIM:619802 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Acne, Increa... |
OMIM:615830 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... |
OMIM:609734 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Inguinal hernia, Tall stature, Femo... |
ORPHA:2849 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... |
ORPHA:79303 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration |
OMIM:619518 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure |
OMIM:177000 |
Alexander Disease |
|
Failure to thrive, Hypothermia, Precocious puberty, Hypothyroidism, Infectious encephalitis, Diab... |
ORPHA:58 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Hyperuricemia, Inflammation of the larg... |
ORPHA:79259 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Diabetes mellitus |
OMIM:144800 |
Marburg Hemorrhagic Fever |
|
Hypothermia, Fever, Hypokalemia, Pancreatitis, Orchitis, Skin rash, Hyperammonemia, Maculopapular... |
ORPHA:99826 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated hepatic transaminase, El... |
ORPHA:94086 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Smith-Magenis Syndrome |
|
Precocious puberty, Chronic otitis media, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, ... |
ORPHA:819 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Arthritis, Eleva... |
ORPHA:905 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Neuroleptic Malignant Syndrome |
|
Hypothermia, Hypomagnesemia, Hypocalcemia, Fever, Aspiration pneumonia, Elevated circulating crea... |
ORPHA:94093 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... |
ORPHA:2959 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... |
OMIM:613070 |
Ethylene Glycol Poisoning |
|
Hypothermia, Hypocalcemia, Gastritis, Cyanosis, Renal tubular epithelial necrosis, Hyperkalemia |
ORPHA:31826 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Menkes Disease |
|
Hypothermia, Osteomyelitis, Inguinal hernia, Chondrocalcinosis, Hypoglycemia, Hernia, Umbilical h... |
ORPHA:565 |
Gaisböck Syndrome |
|
Hyperproteinemia, Gout, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, H... |
ORPHA:90041 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mildly elevated creatine kinase, Mitochondrial swelling, Arthritis |
ORPHA:397744 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Precocious puberty, Maturity-onset diabetes of the young, Hypercholestero... |
ORPHA:254531 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Biliary tra... |
ORPHA:3191 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Glucose intolerance, Small for gestationa... |
OMIM:606721 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:212138 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... |
ORPHA:98908 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia, Central adrenal insufficiency, Hyperthyroidism, Abnormal circulating lipid concentra... |
ORPHA:488632 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... |
OMIM:614582 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, He... |
OMIM:248370 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Pancreatitis, Inguinal hernia, Tall stature, Disproportionate tall stature, Hy... |
OMIM:236200 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hyperlipidemia, Hypothyroidism, Arthrogryposis multiplex congenita, Obesity, ... |
ORPHA:254346 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroi... |
OMIM:218700 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Acne, Hypo... |
ORPHA:77296 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja... |
ORPHA:890 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia, Decreased activity of mitoch... |
OMIM:616672 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Delayed menarche, Abnormality of the mitochondrion |
ORPHA:330050 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... |
OMIM:246200 |
Aromatase Deficiency |
|
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... |
ORPHA:91 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... |
OMIM:212065 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... |
OMIM:277700 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Fever, Hypoplasia of the thymus, Hypertriglyceridem... |
OMIM:619313 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Acne, Increased body weight, Incre... |
ORPHA:759 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Fever, Hypothermia, Hepatomegaly, Hepatic failure, Low plasma citrulline, Hype... |
ORPHA:255210 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... |
OMIM:614450 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... |
OMIM:616263 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating... |
OMIM:615486 |
Barth Syndrome |
|
Failure to thrive, Abnormal mitochondrial morphology |
OMIM:302060 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepatic transaminase,... |
OMIM:214900 |
Atypical Werner Syndrome |
|
Failure to thrive, Decreased body weight, Lipoatrophy, Type II diabetes mellitus, Hyperinsulinemi... |
ORPHA:79474 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decre... |
OMIM:615947 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Stomatitis, Pneumonia, Keratoconjunctivitis sicca |
OMIM:616260 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Hyperuricemia, ... |
ORPHA:348 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Chilblains, Acute pancreatitis, Elevated hep... |
OMIM:619487 |
Halothane Hepatitis |
|
Fever, Viral hepatitis, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Uveitis, Scarring, Weight loss, Hypotherm... |
ORPHA:797 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, S... |
ORPHA:275761 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Abnormality of mitochondrial metabolism |
ORPHA:1192 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Steato... |
ORPHA:470 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Acne |
OMIM:615363 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Periodontitis, Cellulitis, Inguinal hernia, Widened atrophic scar, Ventral hernia, Hypertriglycer... |
ORPHA:536532 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Precocious puberty, Small for gestational age, Maturity-onset diabetes of... |
ORPHA:96184 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... |
OMIM:611126 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Elevate... |
ORPHA:98907 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Recurrent fever, Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita |
OMIM:615330 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:157 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis |
OMIM:615918 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Fever, Hepatomegaly, Splenomegaly, Abnormal inflamm... |
ORPHA:158048 |
Monosomy 13Q34 |
|
Obesity, Infantile hypercalcemia, Hepatic steatosis, Insulin resistance |
ORPHA:96168 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... |
ORPHA:2089 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concen... |
ORPHA:261476 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... |
OMIM:615954 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance |
ORPHA:199276 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia, Hypothermia, Flexion contracture, Temperature instability |
ORPHA:99027 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hepatic steatosis |
ORPHA:52430 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Hepatomegaly, Flexion contracture, Elevated hemoglobin A1c, Generalized lipo... |
OMIM:619127 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, Ab... |
ORPHA:77293 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... |
ORPHA:71 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Hepatomegaly, Joint contracture of the hand, Jaundice, Elevated circulating lo... |
OMIM:214110 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Cyanosis, Abnormality of mitochondrial metabolism, Hyperammonemia |
ORPHA:391428 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... |
OMIM:615418 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent fever, Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration... |
OMIM:619573 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive |
OMIM:210200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Occipital Horn Syndrome |
|
Hypothermia, Hiatus hernia, Inguinal hernia, Cholestasis, Keloids, Femoral hernia, Hepatitis, Aty... |
ORPHA:198 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... |
OMIM:615630 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Periodontitis, Recurrent ... |
ORPHA:167 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... |
ORPHA:785 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... |
ORPHA:699 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... |
OMIM:300972 |
Bloom Syndrome |
|
Type II diabetes mellitus, Malar rash, Small for gestational age, Elevated hemoglobin A1c, Bronch... |
OMIM:210900 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia, Cholestasis, Diffuse hepatic steatosi... |
ORPHA:746 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Fever, Hepatomegaly, Skin rash, Splenomegaly, Atopi... |
OMIM:615846 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Increased circulating prolactin concentration, Slender build... |
ORPHA:3455 |
Rett Syndrome |
|
Failure to thrive, Hyperammonemia, Increased serum pyruvate, Increased serum leptin, Cholecystitis |
ORPHA:778 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia, Abnormal intrahepatic bile duct morpholo... |
ORPHA:363618 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... |
OMIM:203700 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Inguinal hernia, Small ... |
OMIM:613658 |
Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Hepatic steatosis, Recurrent pneumonia, Flexion contracture |
OMIM:616271 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Pituitary ... |
OMIM:614963 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Glycosuria, Large for gestational age, Elevated hepatic transamin... |
OMIM:616026 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Patent ductus arteriosus, Hypercalc... |
ORPHA:369837 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Decreased liver function, Fever, Colitis, Nephritis... |
ORPHA:2442 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypog... |
OMIM:124000 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism |
ORPHA:445038 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... |
ORPHA:99413 |
Turner Syndrome |
|
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, High urinary gonadotropin level, Failure to thrive in infancy, Gastrointestinal... |
ORPHA:99226 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Glucose intolerance, Hyperthyroidism, Goiter, Elevated circulating creatine ki... |
ORPHA:254892 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Nephritis, Flexion contracture, Splenomegaly, Macrovesicular hepatic steatosis, Pat... |
OMIM:617303 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Arthr... |
ORPHA:93111 |
Adrenomyodystrophy |
|
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis |
ORPHA:977 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Increased serum testosterone lev... |
ORPHA:769 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Aspiratio... |
ORPHA:438213 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Glyco... |
OMIM:229600 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Recurrent fever, Hypothermia, Osteomyelitis, Recurrent aspiration pneumonia, Fa... |
ORPHA:642 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Hypothyroidis... |
ORPHA:66634 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Primar... |
OMIM:261515 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Griscelli Syndrome Type 2 |
|
Fever, Hyperlipidemia, Hepatomegaly, Splenomegaly, Jaundice |
ORPHA:79477 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Temperature instability |
OMIM:608643 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism |
OMIM:619273 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Postprandial hyperglycemia, Hypokalemia, ... |
ORPHA:508 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Otitis ... |
ORPHA:64 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Hypothalamic... |
ORPHA:398069 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Recurrent otitis media, Hepatomegaly, Inguinal hernia, Splenomegaly, Membranop... |
OMIM:619525 |
Alagille Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatic failure, Cirrhosis, Hepatocellular ... |
OMIM:118450 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis |
ORPHA:436271 |
Sotos Syndrome |
|
Glucose intolerance, Tall stature, Otitis media, Overgrowth, Patent ductus arteriosus, Prolonged ... |
OMIM:117550 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty, Calcinosis |
ORPHA:90154 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, ... |
OMIM:619377 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Gout, Hypoglycemia, Elevate... |
OMIM:232200 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia |
OMIM:256300 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... |
OMIM:219090 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Obesity, Hypogonadotropic hypogonadism, Reactive hypoglycemia |
OMIM:600955 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Microvesicular hepatic steatosis, Hepatomegaly, Flexion contracture, Cirrhosis, ... |
OMIM:300868 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly |
OMIM:614922 |
Sialuria |
|
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormality of t... |
ORPHA:3166 |
Cushing Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Re... |
ORPHA:96253 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Abnormality of mitochondrial metabolism |
ORPHA:88639 |
Digeorge Syndrome |
|
Cholelithiasis, Decreased circulating parathyroid hormone level, Recurrent otitis media, Hypocalc... |
OMIM:188400 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Increased serum testosterone level, Lipoa... |
OMIM:264090 |
Prader-Willi Syndrome |
|
Abdominal obesity, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemia, Precocious... |
OMIM:176270 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, He... |
ORPHA:404454 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:615356 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis |
OMIM:610198 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Recurrent fever, Failure to thrive, Fever, Osteomyelitis, Decreased body weight, Jaundice, Hyperb... |
OMIM:619475 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Hyperlipidemia, Splenomegaly, E... |
ORPHA:565612 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture |
OMIM:614008 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Precoc... |
OMIM:270400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Glycosuria, Increased hepatocellular l... |
OMIM:220110 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Gou... |
OMIM:232240 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Female hypogonadism, Delayed menarche, Osteoarthritis, Cyanosis, Pubert... |
ORPHA:740 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Hyperbilirubinemia, Inguinal hernia, Eczema, Maternal diabetes,... |
OMIM:300855 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Hyperlipidemia, Pancreatitis, Small for gestational age, Abnormality of thyroi... |
ORPHA:1830 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Hypoplasia of the ovary, Flexion contracture, Azotemia, Hepatic steatosis |
OMIM:619321 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves... |
ORPHA:79102 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus |
ORPHA:439232 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia, Hepatic steatosis, Jaundice |
OMIM:228100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly |
ORPHA:31150 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat... |
OMIM:618278 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hyperlipidemia, Decreased serum testosterone concentration, Decreased response ... |
ORPHA:3464 |
1P36 Deletion Syndrome |
|
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Hypothyr... |
ORPHA:1606 |
Alpha-Fetoprotein Deficiency |
|
Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Cholestasis, Thyroid hypoplasia, Flexion contracture, Small ... |
OMIM:619503 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypog... |
OMIM:241080 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight, Eczematoid dermatitis |
ORPHA:64745 |
Carney Complex |
|
Neoplasm of the pancreas, Abdominal obesity, Increased circulating insulin-like growth factor 1 c... |
ORPHA:1359 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Patent ductus arteriosus, Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate... |
ORPHA:280651 |
Pmm2-Cdg |
|
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Fever, Elevated circulating gro... |
ORPHA:79318 |
Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:243910 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased se... |
ORPHA:273 |
Fabry Disease |
|
Fever, Hyperlipidemia, Abnormal circulating lipid concentration, Arthritis, Delayed puberty, Diab... |
ORPHA:324 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Minimal change glomerulonephritis |
ORPHA:567546 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:244242 |