Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... |
OMIM:232700 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... |
OMIM:306000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... |
ORPHA:293964 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus |
OMIM:613370 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Increased LDL cholesterol c... |
OMIM:615703 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... |
OMIM:610947 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... |
ORPHA:411593 |
Transient Neonatal Diabetes Mellitus |
|
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... |
ORPHA:99886 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... |
ORPHA:171706 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyp... |
OMIM:604367 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Childhood-onset truncal obesity, Type II diabetes mellitus, Hypertrigl... |
ORPHA:71529 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:602485 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Sp... |
OMIM:612526 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1... |
OMIM:618858 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hepatic steatosis, Hyperinsulinemia, Insulin-resistan... |
ORPHA:280356 |
Growth Hormone Insensitivity Syndrome |
|
Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterolemia, Truncal obesity, Fail... |
ORPHA:181393 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... |
OMIM:610717 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... |
ORPHA:79084 |
Mody |
|
Glycosuria, Exocrine pancreatic insufficiency, Large for gestational age, Neonatal hypoglycemia, ... |
ORPHA:552 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hype... |
OMIM:608600 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... |
OMIM:256450 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, H... |
OMIM:606176 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609968 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche, Insulin resistance |
OMIM:614662 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... |
ORPHA:324575 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... |
ORPHA:71212 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Reduced C-peptide level, Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, ... |
OMIM:615980 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... |
OMIM:262190 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... |
OMIM:617156 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... |
ORPHA:2089 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Decreased adip... |
OMIM:615238 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:610582 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... |
OMIM:147630 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatic failure, Hepatomegaly, Fa... |
OMIM:617872 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... |
OMIM:606069 |
Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... |
OMIM:613027 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... |
OMIM:614480 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... |
OMIM:619048 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... |
ORPHA:276575 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia |
OMIM:606762 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adiponectin level,... |
ORPHA:435660 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... |
OMIM:615954 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Decreased adiponectin level, Insulin-resistant d... |
ORPHA:435651 |
Insulin-Resistance Syndrome Type B |
|
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... |
ORPHA:2298 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... |
ORPHA:276580 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... |
ORPHA:26792 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... |
ORPHA:2457 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... |
ORPHA:66628 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
Carnitine Deficiency, Systemic Primary |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... |
OMIM:212140 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... |
ORPHA:179494 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... |
ORPHA:2088 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Cirr... |
ORPHA:363400 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age |
OMIM:618857 |
Congenital Generalized Lipodystrophy |
|
Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insulin resistance, ... |
ORPHA:528 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... |
ORPHA:276556 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatic steatosis, Insulin resistance, Hepatomegaly, Elevated hepatic transaminase, Diabetes mell... |
OMIM:615381 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... |
OMIM:220111 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... |
ORPHA:79644 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... |
OMIM:619386 |
Temple Syndrome |
|
Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity, Hypertriglyceridemi... |
OMIM:616222 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... |
ORPHA:71526 |
African Iron Overload |
|
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... |
ORPHA:139507 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... |
ORPHA:276608 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Insu... |
OMIM:151660 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase c... |
OMIM:255120 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatomegaly, Failure to thrive... |
ORPHA:369 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Port... |
ORPHA:465508 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Jaundice, Overwe... |
ORPHA:26793 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, ... |
OMIM:618620 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Severe fa... |
OMIM:246200 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, F... |
OMIM:605814 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... |
OMIM:616829 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Increased circ... |
ORPHA:444490 |
Acquired Generalized Lipodystrophy |
|
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... |
ORPHA:79086 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... |
OMIM:136120 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Insulin-resistant diabetes mel... |
ORPHA:79083 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Adrenal calcification, P... |
OMIM:278000 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic steatosis, Hepatic failure, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis,... |
OMIM:261680 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Hyperbilirubinemia, Acho... |
OMIM:615710 |
Dysbetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegal... |
ORPHA:412 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Postprandial hyper... |
ORPHA:681 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Smal... |
ORPHA:79237 |
Seckel Syndrome 10 |
|
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... |
OMIM:617253 |
Primary Lipodystrophy |
|
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Type II diabetes mellitus, P... |
ORPHA:90970 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... |
OMIM:251880 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... |
ORPHA:453533 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the live... |
ORPHA:2126 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... |
ORPHA:228305 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... |
OMIM:201450 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... |
OMIM:608612 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatoc... |
ORPHA:370 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... |
ORPHA:263455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase |
OMIM:618400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes mellitus, Hypertrigly... |
ORPHA:2348 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... |
OMIM:603471 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Eleva... |
OMIM:600649 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... |
ORPHA:264580 |
Glycogen Storage Disease Iii |
|
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, E... |
OMIM:232400 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Obesity, Hyperinsulinemia |
ORPHA:369873 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Hyperglycemia, Truncal obesity |
OMIM:615986 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Alstrom Syndrome |
|
Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogo... |
OMIM:203800 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decrea... |
OMIM:607616 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... |
ORPHA:209902 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... |
ORPHA:79240 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... |
OMIM:256810 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... |
OMIM:248370 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Elevated cir... |
OMIM:613327 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hypoglycemia, Decreased plasma total carnitine, Decreased liver function, Hepa... |
ORPHA:42 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:615395 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:90301 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatomegaly, Failure to thrive, Hypoalbuminemia, Cirrhosis, Hepatic fibrosis, H... |
OMIM:602579 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... |
OMIM:616516 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... |
ORPHA:73272 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatic failure, Hypoglycemia, Cholestasis, Hepatoc... |
OMIM:231100 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypog... |
OMIM:617575 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Decreased plasma carnitine, Hepa... |
OMIM:201475 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia, Fulminant h... |
OMIM:231530 |
Hypercholesterolemia, Familial, 4 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:603813 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia |
ORPHA:941 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyce... |
OMIM:603552 |
Short Syndrome |
|
Glucose intolerance, Hyperglycemia, Small for gestational age, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... |
ORPHA:189427 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... |
OMIM:619013 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Insulinoma |
|
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... |
ORPHA:97279 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Failure to thrive, ... |
OMIM:614300 |
Mpi-Cdg |
|
Hypothyroidism, Portal hypertension, Decreased liver function, Hepatomegaly, Failure to thrive, H... |
ORPHA:79319 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Acute hepatic steatosis, Hypoglycemia, Acute hyperammonemia |
OMIM:210200 |
Citrullinemia Type Ii |
|
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... |
ORPHA:247585 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Increased urinary cortisol level, Paradoxic... |
ORPHA:189439 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... |
OMIM:613070 |
Aromatase Deficiency |
|
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Type II diabet... |
ORPHA:91 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dec... |
ORPHA:99901 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hepatomegaly, Hyperuricemia, Hyperglycemia, Weight loss, Hyperammonemia |
ORPHA:134 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis |
ORPHA:75563 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619326 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hepatitis, Hypertriglyc... |
OMIM:300635 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Cholestasis, Hepatitis, Cholestatic liver disease, Postprandial hyperglycemi... |
ORPHA:440713 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase |
OMIM:617093 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated circulating creati... |
OMIM:212138 |
Rabson-Mendenhall Syndrome |
|
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Inc... |
ORPHA:769 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... |
OMIM:619418 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... |
ORPHA:101330 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... |
ORPHA:1227 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Decreased adiponectin level, D... |
ORPHA:280365 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Obesity, Hyperinsulinemia |
ORPHA:791 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dep... |
OMIM:260370 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Hyper... |
ORPHA:348 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Hypoglycemia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum py... |
ORPHA:3008 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... |
ORPHA:567983 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... |
OMIM:301045 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Monosomy 13Q34 |
|
Obesity, Hepatic steatosis, Infantile hypercalcemia, Insulin resistance |
ORPHA:96168 |
Hemochromatosis Type 4 |
|
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:613101 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Obesity, Hypergonadotropic hypogonadism, Hyperinsulinemia |
ORPHA:3085 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... |
OMIM:608594 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... |
OMIM:618805 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Cholestasis, Decreased circulating cortisol level, Adrenal hypoplasia, Adre... |
OMIM:201400 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase |
ORPHA:156 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Elevated circulating creatinine concentration, Insulin resistance, Hyperinsulinemia... |
ORPHA:230 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Failure to thrive in infancy, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... |
ORPHA:247598 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hypoglycemia, Splenomegaly, Hyperammonemia |
ORPHA:664 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Decreased serum zinc, Cholestasis, Elevat... |
ORPHA:541423 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Chr... |
OMIM:614921 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis, Jaundice,... |
OMIM:231680 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... |
OMIM:269700 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... |
OMIM:214900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... |
ORPHA:369840 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... |
OMIM:615947 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubi... |
ORPHA:79303 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated ci... |
ORPHA:228308 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Splenomegaly, ... |
ORPHA:158057 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... |
ORPHA:69663 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyponatremia, Hyperkalemia, Congenital hypothyroidism, Failure to thrive, Precociou... |
OMIM:614736 |
Leprechaunism |
|
Hypokalemia, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, C... |
ORPHA:508 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic steatosis, Hepatomegaly, Failure to thrive, Diabetes mellitus, Pancreatic... |
OMIM:616263 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase |
OMIM:611126 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... |
OMIM:267700 |
Neutral Lipid Storage Myopathy |
|
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Diabetes melli... |
ORPHA:98908 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Hyperlipidemia, Insulin resistance, Calcinosis |
ORPHA:90154 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... |
OMIM:207750 |
Whipple Disease |
|
Hypothyroidism, Hyponatremia, Insulin resistance, Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:3452 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
OMIM:264470 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia, Decreased circulating cortisol level,... |
ORPHA:199296 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:614582 |
Silver-Russell Syndrome |
|
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... |
ORPHA:813 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Hypoglycemia, Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Hyperchol... |
ORPHA:79259 |
Bangstad Syndrome |
|
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... |
OMIM:210740 |
Short Syndrome |
|
Weight loss, Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... |
ORPHA:53693 |
Wilson Disease |
|
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... |
ORPHA:905 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating alanine aminotransferase conce... |
ORPHA:158061 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Obesity, Truncal obesity, Biliary tract abnormality, Diabetes mellitus, Abdom... |
OMIM:209900 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Hepatic failure, Elevated circulating alanine aminotransferase concen... |
OMIM:617049 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Nonketotic hypoglycemi... |
OMIM:608836 |
Fructose Intolerance, Hereditary |
|
Glycosuria, Hepatic steatosis, Hypoglycemia, Hyperuricosuria, Bicarbonaturia, Hepatomegaly, Jaund... |
OMIM:229600 |
Adrenomyodystrophy |
|
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency, Hepatic steatosis |
OMIM:300270 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Splenomegaly, Hepato... |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepa... |
OMIM:618329 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... |
OMIM:618641 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia |
OMIM:615918 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Infantile Liver Failure Syndrome 1 |
|
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... |
OMIM:615438 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Obesity, Overweight, Hype... |
ORPHA:90041 |
Atypical Werner Syndrome |
|
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Delayed puberty, Insulin-... |
ORPHA:79474 |
Chylomicron Retention Disease |
|
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... |
ORPHA:71 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Hypoglycemia, Hypocalcemia, Jaundice |
OMIM:228100 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Di... |
OMIM:616541 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic multinodular goiter, Episodic hypokalemia, Thyrotoxicosis with diffuse ... |
ORPHA:79102 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hepatic steatosis, Small for gestational age, Decreased serum testosterone concentration, Decreas... |
ORPHA:2959 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Ddost-Cdg |
|
Failure to thrive, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase |
ORPHA:300536 |
Estrogen Resistance Syndrome |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... |
ORPHA:785 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central diabetes insipidus, Gonadotropin deficiency, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:293987 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Failure to thrive in infancy, Hypocalcemia, Hypoketotic hypoglycemia, Hypoparathyroi... |
ORPHA:746 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Hepatic failure, Primary adrenal insufficiency, Hepatosplenomeg... |
ORPHA:275761 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis |
OMIM:614924 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance |
ORPHA:90153 |
Hyperlipoproteinemia, Type V |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Diabete... |
OMIM:144650 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Large for gestational age, Hypoglycemia, Hepatomegaly, Hypouricemia, Elevated hepatic... |
OMIM:616026 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... |
OMIM:603553 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... |
ORPHA:276152 |
Methanol Poisoning |
|
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus |
ORPHA:31825 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Abnormality of the liver, Elevated circulating creatine kinase concentration, Failure to thrive, ... |
OMIM:610131 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:277460 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Decreased liver functio... |
OMIM:124000 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... |
OMIM:238600 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Jaundice, S... |
ORPHA:540 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Weight loss, Elevated hepatic tr... |
ORPHA:298 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
X-Linked Acrogigantism |
|
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... |
ORPHA:300373 |
H Syndrome |
|
Hepatosplenomegaly, Diabetes mellitus, Hypertriglyceridemia, Delayed puberty, Hypogonadism |
ORPHA:168569 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Failure to thrive in infancy, Hypercholesterolemia, Obesity, Precocious puberty, ... |
ORPHA:819 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hep... |
OMIM:615486 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating creatine kin... |
ORPHA:98907 |
Gitelman Syndrome |
|
Diabetic ketoacidosis, Hypokalemia, Hypermagnesemia, Primary hyperaldosteronism, Insulin resistan... |
ORPHA:358 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Elevated circulating glu... |
ORPHA:66634 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Hypothyroidism, Hepatic steatosis, Jaundice, Hyperu... |
ORPHA:93111 |
Pearson Syndrome |
|
Glycosuria, Exocrine pancreatic insufficiency, Hypothyroidism, Hepatic failure, Hypokalemia, Macr... |
ORPHA:699 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency |
ORPHA:977 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Insulin resistance, Small for gestational age, Failure to thrive, Precociou... |
ORPHA:96182 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... |
OMIM:300972 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatic failure, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarni... |
ORPHA:157 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Hepatic steatosis, Hyperlipidemia, Obesity, Precocious puberty |
ORPHA:254346 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... |
ORPHA:98855 |
Autoimmune Hepatitis |
|
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Thyroiditis, Elevated... |
ORPHA:2137 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... |
OMIM:232200 |
Dpm1-Cdg |
|
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Recurrent pancreatitis, Hypercholesterolemia, Small for gestational age, Fail... |
OMIM:606721 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Absent gallbladder, Pancreatic hypoplasia, Failure to thrive, Biliary atresia, Diabet... |
OMIM:600001 |
Lysinuric Protein Intolerance |
|
Hepatic failure, Pancreatitis, Decreased response to growth hormone stimulation test, Hyperammone... |
ORPHA:470 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypothyroidism, Hepatic steatosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase... |
OMIM:212065 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Hepatic failure, Hypersplenism, Hyperlipidemia, Abnormal circulating lipid concen... |
ORPHA:77293 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Hepatosplenomegaly, H... |
OMIM:619487 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Elevated circulating creatine kinase concentration, Obesity, Hypertriglyceridemia, Increased LDL ... |
ORPHA:98853 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... |
ORPHA:20 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Glycosuria, Decreased liver function, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis |
ORPHA:436271 |
Glycogen Storage Disease Ib |
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Hypoglycemia, Hyperlipidemia, Hepatomegaly, Hyperuricemia, Xanthelasma, Elevated hepatic transami... |
OMIM:232220 |
Scorpion Envenomation |
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Glycosuria, Acute pancreatitis, Hypokalemia, Elevated circulating aspartate aminotransferase conc... |
ORPHA:466677 |
Hyperlipidemia, Familial Combined, 3 |
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Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... |
OMIM:144250 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia |
OMIM:618398 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia, Hyp... |
OMIM:619313 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Elevated circulating creatine kinase concentration, Hepatic steatosis |
ORPHA:52430 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Splenomegaly, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Hypertriglyceridemia |
OMIM:617591 |
Xp21 Deletion Syndrome |
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Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Elevated cir... |
ORPHA:261476 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Hyperhomocystinemia, Hepatic steatosis, Hypermethioninemia, Failure to thrive, Pancreatitis |
OMIM:236200 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hepatic steatosis, Hypoglycemia, Portal hypertension, Cholestasis, Slender build, Bile duct proli... |
OMIM:613658 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Decreased LDL cholesterol concentration, Hypotriglyceridemia, ... |
ORPHA:14 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Hepatomegaly, Elevated hemoglobin A1c, Elevated hepatic transaminase, Hypertriglyceridemia, Gluco... |
OMIM:619127 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... |
ORPHA:3464 |
Focal Segmental Glomerulosclerosis 1 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Glycogen Storage Disease Ic |
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Hepatoblastoma, Hypoglycemia, Hyperlipidemia, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, ... |
OMIM:232240 |
Werner Syndrome |
|
Insulin resistance, Slender build, Type II diabetes mellitus, Thyroid carcinoma, Hypogonadism |
ORPHA:902 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... |
OMIM:619377 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Diabetes mellitus, Hypertriglyceridemia |
ORPHA:536532 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Glycosuria, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly, Fail... |
OMIM:220110 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Hypercho... |
ORPHA:273 |
D-Bifunctional Protein Deficiency |
|
Hepatic steatosis, Primary adrenal insufficiency, Cholestasis, Bile duct proliferation, Splenomeg... |
OMIM:261515 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia |
OMIM:618183 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Failure to thr... |
OMIM:256040 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hepatic failure, Papillary thyroid carcinoma, Cholestasis, Hyp... |
OMIM:118450 |
Bloom Syndrome |
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Small for gestational age, Diabetes mellitus, Insulin resistance, Abdominal obesity |
ORPHA:125 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatic steatosis, Hypoglycemia, Methylmalonic acidemia, Hepatomegaly, Failure to thrive, Elevate... |
ORPHA:17 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Hypothyroidism, Hyperglycemia |
ORPHA:444077 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... |
OMIM:619573 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia |
OMIM:256300 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated hepatic transa... |
ORPHA:158048 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Obesity, Precocious puberty, Hypoparathyroidism, Hypertriglyceridemia |
ORPHA:369837 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Pulmonary carcinoid tumor, Abnormality of the intrahe... |
ORPHA:363618 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... |
OMIM:619525 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Splenomegaly, Hepatomegaly, Elevated circulating creatine kinase concentration, D... |
ORPHA:565612 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus |
ORPHA:439232 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... |
ORPHA:99413 |
Turner Syndrome |
|
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... |
ORPHA:99228 |
Monosomy X |
|
Hepatic steatosis, Biliary cirrhosis, Hyperlipidemia, Hyperinsulinemia, Failure to thrive in infa... |
ORPHA:99226 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, Hyponatremia, ... |
ORPHA:167 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis |
OMIM:610198 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... |
OMIM:176270 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hyperlipidemia, Decreased serum testosterone concentration, Elevat... |
OMIM:241080 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Failure... |
OMIM:203700 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia |
ORPHA:79477 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Alström Syndrome |
|
Hepatic failure, Decreased circulating T4 level, Increased circulating androgen concentration, Ab... |
ORPHA:64 |
Mucopolysaccharidosis-Plus Syndrome |
|
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Hypoalbuminemia |
OMIM:617303 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Hypoal... |
ORPHA:86816 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism |
OMIM:619273 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypogonadotropic hypogonadism, Hepatic steatosis, Slender build, Increased serum testosterone lev... |
ORPHA:3455 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated hepatic transamin... |
OMIM:615356 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Decreased live... |
ORPHA:2442 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Insulin resistance, Severe failure to thrive, Pubertal developmental failure... |
ORPHA:740 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Small for gestational age, Hypotriglyceridemia, Splenomegaly, H... |
ORPHA:404454 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Failure to thrive, Hypertriglyceridemia |
OMIM:264090 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Fail... |
OMIM:618278 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Elevated circulating growth ... |
ORPHA:79318 |
Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly |
OMIM:243910 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hepatic steatosis, Decreased body weight, Obesity, Jaundice, Overweight, Failure to thrive, Hyper... |
OMIM:619475 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hepatic steatosis, Abdominal obesity, Azotemia, Hypoplasia of the ovary |
OMIM:619321 |
Digeorge Syndrome |
|
Cholelithiasis, Hypothyroidism, Hepatic steatosis, Parathyroid agenesis, Abnormality of the thymu... |
OMIM:188400 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Hepatic steatosis, Abnormality of the liver, Obesity, Failure to thrive, Abnormal... |
ORPHA:1606 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration |
ORPHA:391665 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Hepatic steatosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, H... |
OMIM:619503 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration |
OMIM:235400 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |