Lipomatosis, Multiple Symmetric |
|
Lipoma |
OMIM:151800 |
Lipomatosis, Multiple |
|
Multiple lipomas |
OMIM:151900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Short stature, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tiss... |
OMIM:612526 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance, Multiple lipomas |
ORPHA:2398 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he... |
OMIM:306000 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigly... |
ORPHA:71529 |
Chylomicron Retention Disease |
|
Growth delay, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbum... |
OMIM:246700 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Short stature, Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, D... |
OMIM:616834 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Short stature, Insulin resistance, Failure to thrive, Tr... |
ORPHA:181393 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... |
ORPHA:99886 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... |
OMIM:614480 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... |
ORPHA:171706 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... |
OMIM:607765 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hepatic steatosis, Diabetes mellitus, Flexion co... |
OMIM:615381 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Growth delay, Truncal obesity, Insulin resistance |
ORPHA:140941 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tissue loss, Cirrhosi... |
ORPHA:528 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... |
OMIM:610947 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... |
OMIM:604367 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Growth delay, Failure to thrive, Hyperbilirubinemia, Hyp... |
OMIM:605814 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea, Failure to thrive |
OMIM:266510 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... |
ORPHA:90970 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Severe short-limb d... |
ORPHA:436182 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... |
OMIM:603471 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... |
OMIM:610717 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Failure to thrive, Decreas... |
ORPHA:71526 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Failure to thriv... |
OMIM:617156 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Intrauterine growth retardation, Hypocholesterolemia, Increased cir... |
OMIM:618156 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Growth delay, Increased hepatic glycogen conten... |
OMIM:613027 |
Chylomicron Retention Disease |
|
Growth delay, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, He... |
ORPHA:71 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
Mody |
|
Pancreatic hypoplasia, Intrauterine growth retardation, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia, Failure to thrive |
OMIM:615863 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... |
OMIM:301033 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Failure to thrive, Elevated circulating creatine kinase concent... |
OMIM:613327 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance |
OMIM:614662 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Potocki-Lupski Syndrome |
|
Short stature, Small for gestational age, Hypocholesterolemia, Failure to thrive, Hypothyroidism |
OMIM:610883 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Seckel Syndrome 10 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Severe short sta... |
OMIM:617253 |
Lysosomal Acid Lipase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lysosomal acid lipase activ... |
OMIM:278000 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism |
OMIM:145750 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating... |
OMIM:232400 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Short stature, Hypocholesterolemia, Elevated circulating creatine kinase conc... |
ORPHA:96180 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepa... |
ORPHA:2089 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterole... |
OMIM:212065 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... |
OMIM:235555 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... |
OMIM:617093 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Short stat... |
ORPHA:73272 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Abnormality of body weight, Insulin-resistant diabetes mellitus, Fasting hy... |
ORPHA:2298 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Co... |
ORPHA:101330 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... |
ORPHA:79301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Hyperammonemia, Decreased liver function, Hyperalaninemi... |
OMIM:615160 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed p... |
OMIM:616033 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed... |
ORPHA:90154 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Abnormal... |
ORPHA:64743 |
Bangstad Syndrome |
|
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Abnormality... |
ORPHA:1227 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hy... |
ORPHA:71212 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Growth delay, Hepatocellular carcinoma, Increased hepatic gly... |
ORPHA:2088 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Increased body weight, Ja... |
ORPHA:890 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Hyperammonemia... |
OMIM:212140 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated... |
OMIM:619484 |
Short Syndrome |
|
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Severe short s... |
ORPHA:3163 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... |
OMIM:614300 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:370 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Congenital Analbuminemia |
|
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, ... |
ORPHA:86816 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:255120 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Short stature |
OMIM:618752 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hypocholesterolemia, Fai... |
ORPHA:14 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Short stature, Splenomegaly, Abnormal erythr... |
ORPHA:264580 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618528 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Growth delay, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, H... |
ORPHA:91 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Growth delay, Failure to thrive, Depletion o... |
OMIM:251880 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Pancreatitis, Cholestatic ... |
ORPHA:65682 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Short stature, El... |
ORPHA:79240 |
Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... |
OMIM:233805 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Short stature, Elevated hepatic tra... |
OMIM:256810 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Intrauterine growth retardation, Decreased serum insulin-like grow... |
ORPHA:79324 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... |
ORPHA:247598 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:618620 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Ddost-Cdg |
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Short stature, Failure to thrive, Lipodystrophy, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:300536 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... |
OMIM:147480 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Isolated Biliary Atresia |
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Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
X-Linked Sideroblastic Anemia |
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Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... |
OMIM:616860 |
Ataxia With Vitamin E Deficiency |
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Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
Leprechaunism |
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Severe intrauterine growth retardation, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin ... |
ORPHA:508 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Placental Insufficiency |
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Proportionate short stature, Intrauterine growth retardation, Small for gestational age, Insulin ... |
ORPHA:439167 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Distal arthrogryposis, Hepatomegaly, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... |
ORPHA:42 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Fasting hypoglycemia, Hypoglycemia, Short stature, Small for gestational age, Insulin-resistant d... |
OMIM:262190 |
Cog4-Cdg |
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Failure to thrive in infancy, Growth delay, Fatal liver failure in infancy, Cirrhosis, Hyperchole... |
ORPHA:263501 |
Rabson-Mendenhall Syndrome |
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Fasting hypoglycemia, Intrauterine growth retardation, Severe postnatal growth retardation, Short... |
ORPHA:769 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Obesity, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Short stature, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elev... |
OMIM:619013 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Failure to thrive, Lipodystrophy, Panniculitis, Splenomegaly, Hypertriglyceridemia,... |
OMIM:617591 |
Hyperinsulinism-Hyperammonemia Syndrome |
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Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:600649 |
Alstrom Syndrome |
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Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Donohue Syndrome |
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Fasting hypoglycemia, Intrauterine growth retardation, Hepatic fibrosis, Hyperglycemia, Adipose t... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperlipidemia, Short stature, Flexion contracture, Insulin resistance |
ORPHA:90153 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... |
OMIM:608594 |
Citrullinemia Type Ii |
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Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Dysbetalipoproteinemia |
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Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Blue Diaper Syndrome |
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Hypercalcemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Elevated hepatic trans... |
ORPHA:94086 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Hypoglycemia, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminot... |
OMIM:617049 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Contractures involving the joints of the feet, Hepatomegaly, Mild postnatal growth retardation, A... |
ORPHA:456312 |
Retinitis Pigmentosa |
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Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis |
OMIM:300752 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... |
OMIM:269700 |
Mpi-Cdg |
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Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Keloids, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Obesity, Hyper... |
ORPHA:3085 |
Monosomy 13Q34 |
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Growth delay, Insulin resistance, Hepatic steatosis, Infantile hypercalcemia, Obesity |
ORPHA:96168 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Intrauterine growth retardation, Short stature, Insulin resistance, Abnormal circulating lipid co... |
OMIM:616541 |
Tangier Disease |
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Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
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Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... |
ORPHA:228305 |
Insulinoma |
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Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Marbach-Rustad Progeroid Syndrome |
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Intrauterine growth retardation, Growth delay, Short stature, Insulin resistance, Reduced subcuta... |
OMIM:619322 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu... |
OMIM:618641 |
Silver-Russell Syndrome |
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Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Short stature, Insulin r... |
ORPHA:813 |
Body Mass Index Quantitative Trait Locus 20 |
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Obesity, Hyperinsulinemia |
OMIM:618406 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Gallbladder Disease 1 |
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Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Whipple Disease |
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Hepatomegaly, Cachexia, Hyponatremia, Insulin resistance, Splenomegaly |
ORPHA:3452 |
Primary Pigmented Nodular Adrenocortical Disease |
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Type II diabetes mellitus, Growth delay, Hyperlipidemia, Glucose intolerance, Dorsocervical fat p... |
ORPHA:189439 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia, Abdominal obesity, Truncal obesity |
OMIM:615812 |
Disorder Of Bile Acid Synthesis |
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Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia, Short stature, Failure to thrive |
OMIM:244450 |
Werner Syndrome |
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Chondrocalcinosis, Type II diabetes mellitus, Short stature, Insulin resistance, Lipodystrophy, S... |
ORPHA:902 |
Hypercholesterolemia, Familial, 3 |
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Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Hyperlipoproteinemia, Type I |
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Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Obesity Due To Sim1 Deficiency |
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Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
Bardet-Biedl Syndrome 1 |
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Hepatic fibrosis, Insulin resistance, Truncal obesity, Abdominal obesity, Diabetes mellitus, Obes... |
OMIM:209900 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Hepatomegaly, Hypoalbuminemia, Failure to thrive, Cirrhosis, Decreased liver function, Hepatosple... |
ORPHA:367 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Hypocholesterolemia, Reduced circulating transferrin concentration, C... |
ORPHA:90363 |
Infantile Liver Failure Syndrome 2 |
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Hypoglycemia, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase, Jaundice |
OMIM:616483 |
Hypercholesterolemia, Familial, 2 |
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Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration |
OMIM:144010 |
Bdv Syndrome |
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Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Perlman Syndrome |
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Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Portal Hypertension, Noncirrhotic, 2 |
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Hepatomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Elevated gamma... |
OMIM:619463 |
Budd-Chiari Syndrome |
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Hepatomegaly, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecyst... |
ORPHA:131 |
Gitelman Syndrome |
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Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... |
ORPHA:358 |
Wolcott-Rallison Syndrome |
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Hepatomegaly, Hyponatremia, Growth delay, Short stature, Hyperbilirubinemia, Hyperammonemia, Abno... |
ORPHA:1667 |
Medullary Thyroid Carcinoma |
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Weight loss, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... |
OMIM:201450 |
Interstitial Nephritis, Karyomegalic |
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Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
Immunodeficiency 47 |
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Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... |
OMIM:300972 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Short stature, Pancreatitis... |
OMIM:232200 |
Bloom Syndrome |
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Intrauterine growth retardation, Growth delay, Small for gestational age, Insulin resistance, Sev... |
ORPHA:125 |
Smith-Lemli-Opitz Syndrome |
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Intrauterine growth retardation, Growth delay, Short stature, Elevated 7-dehydrocholesterol, Hypo... |
OMIM:270400 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Short stature, Pancreatitis... |
OMIM:232220 |
Lysosomal Acid Lipase Deficiency |
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Hyperkalemia, Microvesicular hepatic steatosis, Cachexia, Hyponatremia, Hepatic fibrosis, Failure... |
ORPHA:275761 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Severe intrauterine growth retardation, Fasting hypoglycemia, Intrauterine growth retardation, Sm... |
ORPHA:96182 |
Tenorio Syndrome |
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Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Caroli Syndrome |
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Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation, Intrauterine growth retardation, Inguinal hernia, Disproportionate sho... |
OMIM:608022 |
Familial Pancreatic Carcinoma |
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Peritoneal abscess, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the liver, Hepatosplenome... |
ORPHA:1333 |
Primary Sclerosing Cholangitis |
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Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... |
ORPHA:171 |
Woodhouse-Sakati Syndrome |
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Growth delay, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum ... |
ORPHA:3464 |
Neutral Lipid Storage Myopathy |
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Hepatomegaly, Abnormal circulating creatine kinase concentration, Short stature, Hepatic steatosi... |
ORPHA:98908 |
Tyrosinemia, Type I |
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Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Hypertyrosinemia, Spleno... |
OMIM:276700 |
Thalidomide Embryopathy |
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Short stature, Insulin resistance |
ORPHA:3312 |
Estrogen Resistance |
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Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... |
ORPHA:562639 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia, Short stature, Splenomegaly |
ORPHA:66518 |
Reynolds Syndrome |
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Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulating alk... |
OMIM:613471 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Cholelithiasis, Hypercholesterolemia, Diabetes mellitus, Elevated hepatic tra... |
ORPHA:273 |
Fructose Intolerance, Hereditary |
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Hepatomegaly, Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, ... |
OMIM:229600 |
X-Linked Acrogigantism |
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Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Atypical Werner Syndrome |
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Chondrocalcinosis, Type II diabetes mellitus, Abnormality of circulating leptin level, Short stat... |
ORPHA:79474 |
Alström Syndrome |
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Hyperlipidemia, Short stature, Hepatitis, Splenomegaly, Hepatosplenomegaly, Portal hypertension, ... |
ORPHA:64 |
Mosaic Trisomy 9 |
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Asplenia, Abnormal liver lobulation, Intrauterine growth retardation, Camptodactyly of finger |
ORPHA:99776 |
Estrogen Resistance Syndrome |
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Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Prader-Willi Syndrome |
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Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Short stature, Hy... |
OMIM:176270 |
Pmm2-Cdg |
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Hepatic fibrosis, Insulin resistance, Elevated hepatic transaminase, Failure to thrive, Lipodystr... |
ORPHA:79318 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Hashimoto thyroiditis, Hyperlipidemia, Short stature, Atypical scarring of skin, Postnatal growth... |
ORPHA:99413 |
Turner Syndrome |
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Hashimoto thyroiditis, Hyperlipidemia, Short stature, Atypical scarring of skin, Postnatal growth... |
ORPHA:881 |
Mosaic Monosomy X |
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Hashimoto thyroiditis, Hyperlipidemia, Short stature, Atypical scarring of skin, Postnatal growth... |
ORPHA:99228 |
Monosomy X |
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Hashimoto thyroiditis, Hyperlipidemia, Short stature, Atypical scarring of skin, Postnatal growth... |
ORPHA:99226 |
Hutchinson-Gilford Progeria Syndrome |
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Insulin resistance, Weight loss, Absence of subcutaneous fat, Severe failure to thrive, Delayed m... |
ORPHA:740 |
Sarcoidosis |
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Hepatomegaly, Hypercalcemia, Scarring, Weight loss, Abnormal liver parenchyma morphology, Decreas... |
ORPHA:797 |