Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... |
OMIM:232700 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... |
OMIM:615703 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin... |
OMIM:604367 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Type II diabetes mellitus, Obesity, Hypertrigl... |
ORPHA:71529 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resist... |
ORPHA:181393 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:144600 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... |
OMIM:612526 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:606176 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Decreased adiponectin level, Insul... |
ORPHA:79085 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ... |
ORPHA:2089 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... |
OMIM:262190 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Decreased serum leptin, Decr... |
OMIM:615238 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Maturity-onset diabete... |
OMIM:609812 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal obesity, Hypercholest... |
OMIM:615812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Decrea... |
ORPHA:435660 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... |
ORPHA:2457 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... |
ORPHA:66628 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabete... |
ORPHA:435651 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... |
ORPHA:2298 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Elevated circulating acylcarnitine concentration, Ketotic h... |
ORPHA:26792 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Diabetes mellitus, Abnormal circulating lipid concentration |
OMIM:608709 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of secondary sex chara... |
ORPHA:179494 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
ORPHA:363400 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Increased C-peptide level, Insulin re... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... |
OMIM:619386 |
African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... |
OMIM:618620 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... |
ORPHA:681 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancr... |
OMIM:151660 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired gluconeoge... |
OMIM:261680 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Adrenocortical hypoplasia, Hypoglycemia, Hypert... |
OMIM:307030 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated transferrin sat... |
ORPHA:465508 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... |
ORPHA:75234 |
Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g... |
OMIM:261750 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Pancreatitis, Hepatic steatosis,... |
ORPHA:79083 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Abnormal circulating lipid concentration, Insulin resistance, Hepati... |
ORPHA:79086 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Decreased response to... |
ORPHA:71526 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Postprandial hyperglycemia, Cholestasis, ... |
OMIM:246200 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Hyperl... |
ORPHA:90970 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperglycemia, Ac... |
OMIM:615453 |
Dysbetalipoproteinemia |
|
Hypothyroidism, Hypertriglyceridemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, I... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... |
OMIM:278000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, D... |
ORPHA:444490 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:605814 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Small for gestational age, Maturi... |
OMIM:616222 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D... |
OMIM:615710 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... |
ORPHA:2126 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hypertrigly... |
ORPHA:2348 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228305 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:370 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Increased body weight, Elevated hepatic transa... |
ORPHA:264580 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholest... |
ORPHA:209902 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... |
OMIM:608612 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... |
OMIM:607616 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa... |
ORPHA:42 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:90301 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo... |
ORPHA:73272 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transam... |
ORPHA:79240 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... |
OMIM:231530 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Hyponatremia, Hyperglycemia, Peritonitis |
ORPHA:391673 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Decreased plasma carnitine... |
OMIM:201475 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Impaired glucose tolerance, Calcinosis, Hepatomegaly, Ins... |
OMIM:248370 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... |
OMIM:231100 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Elevated circulating creatin... |
OMIM:613327 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen... |
OMIM:603552 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Elevated hepatic transaminase, Glucose intolerance |
ORPHA:75563 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Decreased plasma carni... |
ORPHA:99901 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Hypergonadot... |
ORPHA:91 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Elevated hepatic transaminase, Hepa... |
ORPHA:247585 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Porta... |
ORPHA:440713 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypoalbu... |
OMIM:617575 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:212138 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia... |
OMIM:269880 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Hypoglycemia, Hyperammonemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple... |
OMIM:300635 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Hypopituitarism, Hypercholesterolemia |
ORPHA:90065 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... |
ORPHA:101330 |
Werner Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hypogonadism, Elevated circulating a... |
OMIM:277700 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Diabetes mellitus, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... |
ORPHA:71 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Decreased serum leptin, D... |
ORPHA:280365 |
Glucocorticoid Deficiency 2 |
|
Increased circulating ACTH level, Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Very long chain fatty a... |
ORPHA:98908 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... |
ORPHA:348 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Elevated hepatic tra... |
OMIM:608594 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Failure to thrive, Insulin resistance |
OMIM:214150 |
Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Hyper... |
OMIM:614736 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Failure to thrive, Hy... |
OMIM:609069 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Conjugated hyperbili... |
ORPHA:3111 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... |
ORPHA:3008 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Hyper... |
OMIM:617156 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... |
ORPHA:230 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... |
ORPHA:567983 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity, Hypogonadism |
OMIM:615996 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Acth Deficiency, Isolated |
|
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia, Adrenocorticot... |
OMIM:201400 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Decreased liver function, Periportal fibrosis, Elevated hepatic... |
OMIM:124000 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypogonadism |
ORPHA:791 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent... |
OMIM:231680 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... |
ORPHA:158057 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,... |
OMIM:267700 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228308 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Failure to thrive,... |
OMIM:615947 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Decreased... |
OMIM:608836 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatic fibrosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Steatorrhea, Failure... |
OMIM:602579 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulating apolipoprotein A-I c... |
OMIM:205400 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... |
ORPHA:99885 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Insulin resistance, Hyperlipidemia, Calcinosis |
ORPHA:90154 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Hypokalemia,... |
ORPHA:508 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
OMIM:617049 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:611126 |
Silver-Russell Syndrome |
|
Precocious puberty, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thr... |
ORPHA:813 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct prolif... |
OMIM:618329 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hypothyroidism, Hyperuricemia, Thyroiditis, Hepatocellular carcinoma, Hepat... |
ORPHA:79259 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Insulin resistance, Hepatomegaly, Hyponatremia, Splenomegaly |
ORPHA:3452 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxi... |
ORPHA:79102 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:614582 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight |
OMIM:182290 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Small for gestational age, Goiter, Insulin-resistant diabetes mell... |
OMIM:210740 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti... |
ORPHA:199296 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Short Syndrome |
|
Diabetes mellitus, Insulin resistance, Weight loss |
ORPHA:3163 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:905 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... |
ORPHA:158061 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Elevated hepatic transa... |
ORPHA:98907 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hep... |
ORPHA:79474 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Elevated hepatic transam... |
OMIM:235200 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Cholec... |
ORPHA:90041 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Abnormal circulating lipid concentration, Insulin resistance, Diabetes mellitus, ... |
OMIM:616541 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Small for gestational age, Neoplasm of the pancreas, Elevated hepatic ... |
ORPHA:2959 |
Ddost-Cdg |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Primary hypothyroidism |
ORPHA:300536 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Diabetes mellitus, Delayed pube... |
OMIM:616263 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Glycosuria, Jaundice, Hypophosphatemia, Elevated hepatic transaminase, ... |
OMIM:229600 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly |
ORPHA:2849 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypona... |
ORPHA:275761 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoparathyroidism,... |
ORPHA:746 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... |
OMIM:260370 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... |
OMIM:603553 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Hyperlipoproteinemia, Type V |
|
Decreased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Diabetes melli... |
OMIM:144650 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Failure to thrive, Decreased liver function |
ORPHA:70472 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Insulin resistance, Biliary tract abnormality, Diabetes mellitus,... |
OMIM:209900 |
Methanol Poisoning |
|
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia |
ORPHA:31825 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Hypertriglyceridemia, Precocious puberty, Delayed puberty, Hypercholesterolemia, ... |
ORPHA:819 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Diabetes ... |
OMIM:616026 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia |
ORPHA:445038 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotrop... |
ORPHA:298 |
Werner Syndrome |
|
Thyroid carcinoma, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Slender build |
ORPHA:902 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomega... |
ORPHA:540 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... |
ORPHA:567548 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Neonatal hypogly... |
ORPHA:66634 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Hyperuricemia, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancr... |
ORPHA:93111 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ci... |
OMIM:615486 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Delayed pub... |
OMIM:232200 |
H Syndrome |
|
Hypogonadism, Hepatosplenomegaly, Diabetes mellitus, Delayed puberty, Hypertriglyceridemia |
ORPHA:168569 |
Gitelman Syndrome |
|
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, ... |
ORPHA:358 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
Dpm1-Cdg |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Failure t... |
ORPHA:79322 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Small for gestational age, Steatorrhea, Diabetes mellitus, Pancreatic apla... |
OMIM:615935 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Hepatic steatosis, Hyperlipidemia, Obesity |
ORPHA:254346 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Nonketotic hypoglycemia, Jaundice, Elevated hepatic transaminase, Acu... |
ORPHA:20 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:300972 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:96182 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati... |
ORPHA:2137 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... |
ORPHA:98855 |
Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Glycosur... |
OMIM:277900 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Hepatic steatosis, Hypopara... |
ORPHA:699 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:157 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Impaired glucose tolerance, Small for gestational age, Insulin resistance... |
OMIM:606721 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Hypoplastic spleen, Increased circulating ferritin concentration, Hypoplasi... |
OMIM:619313 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver function |
ORPHA:436271 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity, Elevated circulating crea... |
ORPHA:98853 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly |
OMIM:618398 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Glycosuria, Diabetes mellitus, Failur... |
OMIM:600001 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatic failure, Abnormal circulating lipid concentration, Hypersplenism, Neoplasm of ... |
ORPHA:77293 |
Scorpion Envenomation |
|
Glycosuria, Hypokalemia, Elevated circulating aspartate aminotransferase concentration, Increased... |
ORPHA:466677 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Hepatosplenomegaly,... |
OMIM:619487 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... |
ORPHA:470 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Small for gestational age, Failure to thrive, Hypoglycemia, Hyp... |
OMIM:220111 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... |
ORPHA:261476 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Slender build, Small for gestational age, Unconjugated hyperbilirubinemia, Elevated he... |
OMIM:613658 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemi... |
OMIM:232220 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Hepatic steatosis, Failure to thrive, Pancreatitis |
OMIM:236200 |
3-Methylglutaconic Aciduria, Type V |
|
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Microvesicular he... |
OMIM:610198 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Elevated hepatic transaminase, Elevated hemoglobin A1c, Hepatomegaly, Hypert... |
OMIM:619127 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbiliru... |
ORPHA:14 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly |
OMIM:619802 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, ... |
OMIM:212065 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, Decreased... |
OMIM:220110 |
D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent... |
OMIM:261515 |
Bloom Syndrome |
|
Hepatic steatosis, Type II diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c |
OMIM:210900 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Hypokalemia, Portal fibrosis, Fa... |
OMIM:619377 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Diabetes mellitus, Hypertriglyceridemia |
ORPHA:536532 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Elevated hepatic transaminase, Increased intramyocellular lipid droplets,... |
ORPHA:17 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Ab... |
ORPHA:273 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyponatremia, Hyp... |
OMIM:618183 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Bloom Syndrome |
|
Small for gestational age, Diabetes mellitus, Insulin resistance, Abdominal obesity |
ORPHA:125 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly... |
ORPHA:565612 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... |
OMIM:619991 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Impaired glucose tolerance, Eleva... |
OMIM:256040 |
Alagille Syndrome 1 |
|
Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb... |
OMIM:118450 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, Dela... |
OMIM:232240 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Obesity, Hypercalcemia, Hypoparathyroidism, Hypertriglyceridemia |
ORPHA:369837 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomegaly, Hyperp... |
ORPHA:158048 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... |
OMIM:619525 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99226 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hype... |
ORPHA:363618 |
Chédiak-Higashi Syndrome |
|
Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating ferritin conce... |
ORPHA:167 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Diabetes mellitus, Decreased seru... |
OMIM:241080 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly |
ORPHA:79477 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:616433 |
Cimdag Syndrome |
|
Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Mucopolysaccharidosis-Plus Syndrome |
|
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Hypoalbuminemia |
OMIM:617303 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... |
ORPHA:86816 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Decreased circulating T4 co... |
ORPHA:64 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly |
ORPHA:31150 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum estradiol, Increased circulating prolactin concentration, Increased serum testost... |
ORPHA:3455 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss, Hepatitis, Hepatic steatosis, Increased circulating ferritin concent... |
OMIM:615846 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Decreased LDL choles... |
ORPHA:404454 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... |
OMIM:176270 |
X-Linked Lymphoproliferative Disease |
|
Hepatic failure, Fulminant hepatitis, Hepatic necrosis, Elevated hepatic transaminase, Hepatosple... |
ORPHA:2442 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kin... |
OMIM:615356 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Pubertal developmental failure in females, Weight loss, Insulin resistance, ... |
ORPHA:740 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu... |
OMIM:203700 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hepatocellular necrosis, Unconjugated hyperbilirubinemia, Hepat... |
OMIM:618278 |
Smith-Lemli-Opitz Syndrome |
|
Cirrhosis, Precocious puberty, Hepatic steatosis, Failure to thrive, Hepatomegaly, Cholestatic li... |
OMIM:270400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatic steat... |
OMIM:619475 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Increased serum testosterone level, Small for gestational age, Failure ... |
OMIM:264090 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Jaundice, Maternal diabetes, Hyperbilirubinemia, Macrovesicular... |
OMIM:300855 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Azotemia |
OMIM:619321 |
Pmm2-Cdg |
|
Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Large for gestational age, Hepatomegaly, Elevated he... |
OMIM:300868 |
Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Cirrhosis |
OMIM:243910 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Abnormality of the thy... |
OMIM:188400 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Abnormality of the liver, Hypogonadism, Hepatic steatosis, Failure to thrive, Ann... |
ORPHA:1606 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Thyroid hypoplasia, Hepatosp... |
OMIM:619503 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |