Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bulimia Nervosa, Susceptibility To |
|
Bulimia |
OMIM:607499 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Lipomatosis, Multiple Symmetric |
|
Lipoma |
OMIM:151800 |
Lipomatosis, Multiple |
|
Multiple lipomas |
OMIM:151900 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child... |
ORPHA:71529 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
OMIM:240900 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Tall stature, Increased bone mineral density, Obesity, Hyperinsulinemia |
OMIM:618406 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... |
ORPHA:71526 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Exce... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... |
ORPHA:276556 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Exce... |
ORPHA:276580 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia |
ORPHA:369873 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Primary amenorrhea, O... |
OMIM:614962 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin defici... |
OMIM:609734 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Neonatal Hemochromatosis |
|
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... |
ORPHA:446 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... |
OMIM:271500 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:66628 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Leptin Receptor Deficiency |
|
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... |
OMIM:614963 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hypoglycemia, Hep... |
OMIM:231100 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:179494 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... |
ORPHA:139507 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lyso... |
OMIM:278000 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... |
OMIM:603471 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... |
ORPHA:369 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... |
OMIM:232400 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age |
OMIM:618858 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Increased circulating T4 level, Fasting hypoglycemia, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... |
OMIM:610717 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi... |
OMIM:617156 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... |
OMIM:612526 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholesterolemia, Diab... |
OMIM:610947 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Cirrhosis, Hyperc... |
OMIM:605814 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Acromegaloid Facial Appearance Syndrome |
|
Large for gestational age |
OMIM:102150 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia |
OMIM:222100 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hyp... |
ORPHA:71212 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, I... |
OMIM:300635 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... |
ORPHA:139491 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma |
OMIM:114550 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Hepatitis |
OMIM:118900 |
Temple Syndrome |
|
Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Obesity... |
ORPHA:254516 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis |
OMIM:614379 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity, Irregular menstruation |
OMIM:615986 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Failure ... |
OMIM:251880 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:619386 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... |
OMIM:604367 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
Coach Syndrome 2 |
|
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... |
OMIM:619111 |
Cyanosis And Hepatic Disease |
|
Hepatitis, Abnormal abdomen morphology |
OMIM:219400 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Polyphagia |
ORPHA:177910 |
Carcinoma Of Esophagus |
|
Weight loss, Dysphagia, Obesity |
ORPHA:70482 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... |
OMIM:607765 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... |
ORPHA:247585 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... |
ORPHA:209902 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... |
OMIM:619048 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Skin rash |
OMIM:619175 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Halothane Hepatitis |
|
Viral hepatitis, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Porphyria Cutanea Tarda, Type I |
|
Eczema, Hepatic fibrosis |
OMIM:176090 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:370 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Osteoporosis, Primary amenorrhea, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ... |
OMIM:608594 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Hyperostosis Frontalis Interna |
|
Obesity, Diabetes mellitus |
OMIM:144800 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ... |
OMIM:269700 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype... |
OMIM:619484 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Pn... |
ORPHA:26793 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Abnormal ery... |
ORPHA:264580 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Cubitus Valgus With Mental Retardation And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... |
OMIM:301033 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Osteopenia, Primary amenorrhea, Hyperinsulinemia |
OMIM:615363 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... |
OMIM:613759 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... |
OMIM:212140 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Goiter, Weight loss, Hyperactivity, Graves disease |
OMIM:275000 |
6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Failure to thrive, Hyperlipoproteinemia, Splenomegaly, Colitis |
OMIM:615947 |
Huntington Disease |
|
Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Decreased body mass index, Choking episod... |
ORPHA:399 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... |
ORPHA:79240 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia, Elevated circulating acylcarnitine co... |
ORPHA:26792 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia |
OMIM:617950 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... |
OMIM:614300 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Decreased r... |
OMIM:606407 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... |
ORPHA:101330 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic steatosis, ... |
OMIM:615486 |
Estrogen Resistance Syndrome |
|
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Osteoporosis, Del... |
ORPHA:785 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... |
ORPHA:199296 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... |
ORPHA:53035 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... |
OMIM:618805 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Decreased serum iron, Cirr... |
OMIM:614602 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism, Cholestasis, Obesity |
OMIM:616629 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly... |
ORPHA:905 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Central hypothyroidism, Infertility, Type II diabetes mellitus, Polyphagia, Failure to ... |
ORPHA:398079 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine k... |
OMIM:201475 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... |
ORPHA:158061 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... |
OMIM:618641 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Increased circulating T4 level, Episcleritis, Goiter, Polyphagia, Puberty and gonad... |
ORPHA:525731 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase |
OMIM:617093 |
Bile Acid Malabsorption, Primary, 2 |
|
Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev... |
OMIM:619481 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
Perlman Syndrome |
|
Hepatomegaly, Tall stature, Capillary hemangioma, Inguinal hernia, Abnormal pancreas morphology, ... |
ORPHA:2849 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Tubulointerstiti... |
OMIM:203800 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Dysphagia, Insulin resistance, Elevated circulating creatine kinase concentration, ... |
OMIM:613327 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... |
ORPHA:98754 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis |
ORPHA:466794 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... |
ORPHA:228305 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... |
OMIM:615630 |
Isolated Biliary Atresia |
|
Acholic stools, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... |
ORPHA:30391 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus |
ORPHA:2377 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... |
ORPHA:247598 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... |
ORPHA:98793 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Hepatitis, Splenomegaly |
ORPHA:444463 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Hyperalaninemia, Elevated gamma-gl... |
OMIM:614582 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoaciduria, Jaundice |
OMIM:230350 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Pancreatic islet-cell... |
OMIM:246200 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... |
ORPHA:177901 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester... |
OMIM:606721 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... |
ORPHA:95427 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hypoalbuminemia, Hepatic fibrosis, Hepatocellular carc... |
ORPHA:186 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive |
OMIM:618234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Retinitis Pigmentosa |
|
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi... |
ORPHA:2137 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Hyperglycinuria, Elevated hepatic transaminase, De... |
OMIM:201450 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperin... |
ORPHA:3085 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Eczema, Failure to thrive, Elevated circulating creatine kinase concentration, Elev... |
OMIM:615895 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Polyphagia, Hypogonadism, Inability to walk, Obesity |
OMIM:615547 |
Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... |
ORPHA:53693 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... |
ORPHA:412 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections... |
OMIM:611182 |
Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Increased serum insulin-like growth factor 1, Polyphagia, Tall stature, Pituitary ade... |
OMIM:300942 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Astrocytoma, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circ... |
ORPHA:79086 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiom... |
ORPHA:42 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... |
OMIM:616222 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Infertility, Poly... |
OMIM:176270 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy, Arthrogryposis multiplex ... |
OMIM:613404 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Cholelit... |
ORPHA:848 |
Prader-Willi-Like Syndrome |
|
Premature adrenarche, Decreased inhibin B level, Anterior pituitary hypoplasia, Diabetes mellitus... |
ORPHA:398073 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hyp... |
OMIM:619013 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... |
OMIM:614921 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... |
ORPHA:171 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Lethargy, Infertility, Amenorrhea, Hyperglycemia, Hypogonadotropic hypogonadi... |
ORPHA:465508 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase |
OMIM:264470 |
Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, Hepatitis, Art... |
ORPHA:829 |
Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Failure to thrive, Verrucae,... |
ORPHA:33110 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Type II diabetes mellitus, Giant cell hepatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:79095 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Infertility, Polyphagia, Failure to thrive... |
ORPHA:739 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Failu... |
ORPHA:47 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Decreased ci... |
OMIM:212065 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Decreased serum zinc, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Chole... |
ORPHA:541423 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis, Abnorm... |
ORPHA:570422 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... |
OMIM:261680 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... |
OMIM:300972 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Luscan-Lumish Syndrome |
|
Overgrowth, Polyphagia, Advanced ossification of carpal bones, Obesity, Irregular menstruation |
OMIM:616831 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Lethargy, Central hypothyroidism, Infertility, Type II diabetes mellitus, Polyphagia, Failure to ... |
ORPHA:398069 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Hypertrigly... |
OMIM:615381 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Reduced bone mineral density, Osteopenia |
OMIM:619489 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail... |
OMIM:256810 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity |
ORPHA:261483 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Memb... |
ORPHA:251004 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Enlarged kidney, Cholestasis |
OMIM:615382 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Cutaneous myxoma, Diab... |
ORPHA:189439 |
Cog4-Cdg |
|
Failure to thrive in infancy, Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, He... |
ORPHA:263501 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... |
ORPHA:890 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Diabetes mellitus |
OMIM:615981 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Failure to thrive, Right ventricular hypertrophy, Arthrogryposis multiplex ... |
OMIM:208085 |
Short Stature-Obesity Syndrome |
|
Obesity |
OMIM:269870 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentrati... |
OMIM:194380 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Hepatic fibrosis, Ascites, Failure to thrive, Weight loss, Left ventr... |
OMIM:619487 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... |
ORPHA:79322 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Acne, Obesity, Biliary tract... |
ORPHA:3191 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
Abcd Syndrome |
|
Large for gestational age |
OMIM:600501 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho... |
OMIM:606003 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... |
ORPHA:444490 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis |
OMIM:607361 |
Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Failure to thrive, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyper... |
OMIM:238970 |
Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic fibrosis, Hep... |
ORPHA:231226 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... |
OMIM:615438 |
Wilson Disease |
|
Hepatomegaly, Hypoparathyroidism, Dysphagia, Hepatocellular carcinoma, Osteoarthritis, Glycosuria... |
OMIM:277900 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
D-Glyceric Aciduria |
|
Abnormal enzyme/coenzyme activity, Nonketotic hyperglycinemia, Hyperglycinemia, Increased circula... |
ORPHA:941 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Failure to thrive, Recurrent otitis media, Cirrhosis, Recurrent pneu... |
OMIM:615207 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Failure to thrive secondary to recurren... |
ORPHA:169160 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Hepatic fibrosis, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyperammon... |
OMIM:207900 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Polydipsia, Ascites, Congenital hepat... |
ORPHA:84081 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Failure to thri... |
OMIM:619377 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity |
OMIM:614651 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Ataxia, Hypoglycemia, Failure to thrive |
OMIM:220111 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteoporosis, Diabetes mellitus, Primary amenorrhea, Obesity |
OMIM:610628 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Obesity, Failure to thrive in infancy |
OMIM:613670 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... |
ORPHA:275761 |
Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia |
ORPHA:397941 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Obesity, Prec... |
ORPHA:254531 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... |
ORPHA:882 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Asplenia, Chronic hepatitis, Hepatitis, Primary adrenal insufficiency,... |
OMIM:269200 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney |
OMIM:615415 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Failure to thrive, Fasciit... |
ORPHA:39812 |
Fryns Macrocephaly |
|
Truncal obesity, Knee flexion contracture |
OMIM:600302 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosi... |
ORPHA:71 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... |
OMIM:238600 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Adrenomyodystrophy |
|
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus... |
ORPHA:77296 |
Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking... |
OMIM:300148 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Stomatitis, Decreased circulating IgA level, Failure to thrive, Decreased circulati... |
OMIM:308230 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Decreased prealbumin level, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gastri... |
ORPHA:37042 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hyponatremia, Infectious encephalitis, Hyperlipidemia, Elevated hepatic t... |
ORPHA:293987 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Cholestasis |
OMIM:266920 |
Autism, Susceptibility To, 18 |
|
Overweight, Tall stature |
OMIM:615032 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Hyperammonemia, Elevated creatine kinase after exercise, Hepatic steatosis, Ac... |
ORPHA:99901 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Necrotizing Enterocolitis |
|
Leukocytosis, Neutropenia, Small for gestational age, Hyperglycemia, Abnormal glucose homeostasis... |
ORPHA:391673 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli... |
OMIM:616263 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... |
ORPHA:276152 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglyc... |
OMIM:212138 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Osteoar... |
ORPHA:633 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Jaundice |
OMIM:214980 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Myasthenia Gravis |
|
Dysphagia, Myositis, Hepatitis, Primary adrenal insufficiency, Glycosuria, Acrocyanosis, Hyperthy... |
ORPHA:589 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Abnormal circulating lipid concentration, Hepatitis, Splenomegaly, Jaundice |
ORPHA:381 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... |
ORPHA:54595 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Beta-Thalassemia Major |
|
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic... |
ORPHA:231214 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Congenital hypothyroidism, Hepatic fibrosis, Splenic cyst, P... |
OMIM:610199 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Hyperglycine... |
ORPHA:470 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia |
OMIM:618363 |
Bardet-Biedl Syndrome |
|
Hypogonadism, Obesity, Hypoplasia of the ovary, Hepatic fibrosis |
ORPHA:110 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... |
ORPHA:14 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Oligomenorrhea, Polyphagia, Ectopic ossification,... |
ORPHA:79444 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... |
ORPHA:562639 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... |
OMIM:616860 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Osteolytic defects of th... |
OMIM:608612 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis |
OMIM:616589 |
Gangliocytoma |
|
Abnormal prolactin level, Polyphagia, Amenorrhea, Decreased female libido, Abnormality of the pit... |
ORPHA:251937 |
Ddost-Cdg |
|
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... |
ORPHA:300536 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Failure to thrive, Hepatitis, Arthritis, Increased circulating IgE level, T... |
OMIM:304790 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Failure to thrive in infancy, Hepatitis, Cirrhosis, Hepatosplenomegaly, Thyroiditis,... |
ORPHA:228426 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Abnormal enzyme/coenzy... |
ORPHA:70472 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia |
ORPHA:228402 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... |
OMIM:235555 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Weight loss, Ataxia, Oral aversion |
ORPHA:134 |
Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva... |
OMIM:216360 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Left ventricular hypertrophy... |
OMIM:209900 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hypoglycemia, Failure to thrive, Weight loss, He... |
ORPHA:199299 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Decreased circulating IgA level, Hepatitis, Splenomeg... |
OMIM:613385 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase le... |
OMIM:231530 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Hypoglycemia, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neopla... |
ORPHA:2126 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Pancreatitis, Splenomegaly, Cirrho... |
ORPHA:90970 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... |
ORPHA:1227 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Craniosynostosis |
OMIM:175700 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia |
OMIM:618774 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Failure to thrive |
OMIM:614924 |
Propionic Acidemia |
|
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity |
OMIM:615812 |
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Arthritis, Splenomegaly, Abnormality of the liver,... |
OMIM:210250 |
Peroxisome Biogenesis Disorder 1B |
|
Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hyperoxaluria |
OMIM:601539 |
Summitt Syndrome |
|
Obesity, Camptodactyly of finger, Tall stature |
ORPHA:3210 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Oligomenorrhea, Polyphagia, Ectopic ossification,... |
ORPHA:79443 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Anemia, Broad-based ... |
OMIM:614450 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:2233 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Rickets, Failure to thrive, Impaired glucose tolerance, Glycosuria, Osteope... |
ORPHA:2088 |
Avian Influenza |
|
Hypoalbuminemia, Hypoxemia, Infectious encephalitis, Pneumonia, Elevated circulating creatine kin... |
ORPHA:454836 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Galactosemia I |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... |
OMIM:230400 |
Congenital Enterovirus Infection |
|
Fetal ascites, Myocarditis, Infectious encephalitis, Hepatitis, Hyperammonemia, Cholestasis, Hepa... |
ORPHA:292 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Truncal obesity |
OMIM:268050 |
Angelman Syndrome |
|
Precocious puberty in females, Dysphagia, Polyphagia, Hyperactivity, Inability to walk, Ataxia, B... |
ORPHA:72 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... |
ORPHA:567548 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Blue Diaper Syndrome |
|
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... |
ORPHA:94086 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity |
OMIM:618822 |
Syndromic Diarrhea |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for gestational age, Hypop... |
ORPHA:84064 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce... |
ORPHA:348 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomegaly |
OMIM:605309 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia, Diabetes mellitus |
OMIM:609069 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Biliary tract abnormality, Failure to t... |
OMIM:209920 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulating cre... |
ORPHA:36234 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated ci... |
OMIM:231680 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Obesity, Lipoma |
ORPHA:480907 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... |
OMIM:601847 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Small for gestational age, Hyperglycemia |
OMIM:269880 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:1715 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia |
OMIM:615538 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Failure to thrive |
OMIM:210200 |
Hardikar Syndrome |
|
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Splenome... |
OMIM:301068 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... |
ORPHA:96184 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Hypogonadotropic hypogonadism, Weight loss, Hyperalaninemia, Cirrhosis, Macr... |
ORPHA:298 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Small for ... |
OMIM:222470 |
Meckel Syndrome, Type 6 |
|
Bile duct proliferation, Cystic liver disease, Hepatic fibrosis |
OMIM:612284 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity |
ORPHA:2183 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, T... |
ORPHA:228308 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity |
OMIM:301900 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnormal circulating ... |
ORPHA:90674 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
|