Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas, Arthralgia, Abnormal adipose tissue morphology |
ORPHA:2398 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ra... |
ORPHA:457050 |
Hyperinsulinism Due To Insr Deficiency |
|
Fatigue, Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... |
ORPHA:263458 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue, Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsuli... |
ORPHA:79299 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Sudden death, Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Myopathy, Arthralgia, Hepatic steatosis |
ORPHA:79087 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Neutral Lipid Storage Disease With Myopathy |
|
Exercise intolerance, Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased m... |
OMIM:610717 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased endomysial conne... |
OMIM:602541 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal mus... |
OMIM:613877 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619048 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... |
ORPHA:352470 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Lower limb muscle weakness, Insulin re... |
OMIM:615980 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Arthra... |
OMIM:606069 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... |
OMIM:619518 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal mitochondrial shap... |
ORPHA:17 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Episodic abdom... |
ORPHA:228305 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... |
ORPHA:363400 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitu... |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypo... |
ORPHA:276608 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... |
ORPHA:79083 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Exercise-induced myalgia, Myalgia, Decreased activity of mitochond... |
OMIM:618250 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... |
ORPHA:2348 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Card... |
ORPHA:42 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... |
OMIM:151660 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglyc... |
ORPHA:276575 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Foot dorsiflexor weakness |
OMIM:618400 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... |
OMIM:231530 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Decreased muscle mass, Decreased muscle glycog... |
ORPHA:263297 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... |
ORPHA:528 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... |
OMIM:608600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Decreased activity of mitochondrial complex I, Hepatomegaly, Myopathy, Macrovesicular hepatic ste... |
OMIM:618234 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... |
ORPHA:2849 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Insulin resistance, Insulin-resi... |
ORPHA:79086 |
Insulinoma |
|
Fatigue, Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cell... |
ORPHA:97279 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... |
OMIM:615238 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:232700 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue, Hepatomegaly, Elevated hepatic transaminase, Hyperinsulinemia, Glycosuria, Pancreatic is... |
ORPHA:263455 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:276556 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep... |
ORPHA:280365 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Abnormal te... |
ORPHA:791 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Type II diabetes mellitus, Kelo... |
ORPHA:3085 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Intrahepatic cholesta... |
OMIM:606812 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... |
ORPHA:99901 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Exercise intolerance, Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Centrally nucle... |
OMIM:613327 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... |
ORPHA:71212 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Exercise intolerance, Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatos... |
OMIM:611126 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... |
OMIM:246200 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Ragged-red ... |
ORPHA:352447 |
Insulin-Resistance Syndrome Type B |
|
Fatigue, Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration... |
ORPHA:2298 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Decreased activ... |
OMIM:256810 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... |
OMIM:608594 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Car... |
OMIM:201475 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:90301 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir... |
ORPHA:369 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion ... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type It |
|
Fatigue, Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Decreased serum insul... |
OMIM:614921 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Hypo... |
OMIM:600649 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot... |
ORPHA:298 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase de... |
OMIM:231680 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Barth Syndrome |
|
Fatigue, Skeletal myopathy, Exercise intolerance, Abnormal mitochondrial morphology |
OMIM:302060 |
Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fatigue, Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Skeleta... |
ORPHA:264580 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... |
ORPHA:98908 |
X-Linked Sideroblastic Anemia |
|
Fatigue, Splenomegaly, Glucose intolerance, Elevated hepatic transaminase |
ORPHA:75563 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased activity of mitochondrial complex IV, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Whipple Disease |
|
Fatigue, Hepatomegaly, Myositis, Abdominal pain, Splenomegaly, Insulin resistance, Chest pain, Ar... |
ORPHA:3452 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Rhabdomyolysis, Hepatic steatosis, Neo... |
OMIM:212138 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... |
OMIM:269880 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Myalgia, Muscular dystrophy, Limb-girdle m... |
ORPHA:369840 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Wilson Disease |
|
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaun... |
ORPHA:905 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Exercise intolerance, Hepatic steatosis, Elevated hepatic transaminase, Decreased muscle mass, He... |
OMIM:619013 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased activity o... |
OMIM:614924 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... |
ORPHA:101330 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Abnormality of the mitochondrion |
ORPHA:91130 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic failure |
OMIM:602579 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormality of chromosome stability, Diab... |
ORPHA:100 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Precocious puberty, Cryptorchidism, Insulin resistance, Recurrent hypoglyc... |
ORPHA:813 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Werner Syndrome |
|
Skeletal muscle atrophy, Lipodystrophy, Lipoatrophy, Insulin resistance, Thyroid carcinoma, Hypog... |
ORPHA:902 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Sudden cardiac death, Cryptorchidi... |
OMIM:610198 |
Congenital Macroglossia |
|
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonado... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Limb hypertonia |
OMIM:615918 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hip pain, Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in ... |
ORPHA:52430 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular he... |
OMIM:124000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Exercise intolerance, Rigors, Hypoparathyroidism, Rhabdomyolysis, Cholestasis, Skeletal myopathy,... |
ORPHA:746 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Chest pain |
ORPHA:230 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma |
ORPHA:210548 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism |
ORPHA:300536 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Insulin resistance, Hypoglycemia |
ORPHA:73272 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Decreased plasma total carnitine, Decreased pl... |
ORPHA:228308 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... |
ORPHA:2959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... |
ORPHA:348 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy |
OMIM:275630 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Chronic fatigue, Abdom... |
ORPHA:2137 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... |
OMIM:618805 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati... |
ORPHA:79322 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Ins... |
ORPHA:508 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Decreased activity of mitochondrial complex I, Microvesicular hepatic steatosis, Decreased activi... |
OMIM:616672 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:617093 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Genera... |
ORPHA:66634 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Tendon xanthomatosis, Hepati... |
ORPHA:412 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis |
ORPHA:96168 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis |
OMIM:615996 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Decreased activity of mitocho... |
OMIM:615453 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young, Abdominal... |
OMIM:609812 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypoglycemia, Microvesicular hepatic steatosis, Splenomegaly, Mac... |
OMIM:619418 |
Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Night sweats, ... |
ORPHA:2126 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Generalized lipodystrophy, Insulin resistance, Delayed puberty |
ORPHA:90154 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Hypothyroidism |
OMIM:616541 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Myopathy, Hepatic steatosis |
ORPHA:977 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentratio... |
ORPHA:79474 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... |
OMIM:614582 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... |
ORPHA:79303 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia |
OMIM:210200 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Azoospermia, Type II di... |
OMIM:210900 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... |
ORPHA:273 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Glycosuria, Diffuse hepatic st... |
ORPHA:436271 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue, Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased ci... |
OMIM:615954 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Decreased response to growth hormone stimulation test, Precocious puberty,... |
ORPHA:96182 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Urinary incontinence, Maternal diabetes, Abdominal pain, Insulin resist... |
ORPHA:358 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:445038 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Cholestasis... |
OMIM:614300 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Rec... |
ORPHA:444490 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, EMG: myopathic abnormalities, Myopathy, Increased hepatocellular l... |
ORPHA:71 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... |
ORPHA:567983 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Myopathy, Shoulder girdle mu... |
ORPHA:98907 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Glucose intolerance, Abnormality of the liv... |
ORPHA:254892 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Cryptorchidism, Hypothyroidism, Arthrogryposis multiplex congenita, Hepatic s... |
ORPHA:254346 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Arthralgia, Flexion contracture |
ORPHA:90153 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:176270 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function, Myopathy |
OMIM:614922 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hepatomegaly, Decreased liver function, Increased intramyocellular lipid dr... |
OMIM:220110 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Episodic abdominal pain, Abnorma... |
ORPHA:3166 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... |
OMIM:619487 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Nonketotic hypoglycemia... |
ORPHA:20 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Night sweats, Hepatic fibrosis, Hepatocellular carci... |
ORPHA:247585 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... |
OMIM:617156 |
Bloom Syndrome |
|
Diabetes mellitus, Adipose tissue loss, Insulin resistance, Oligozoospermia, Azoospermia |
ORPHA:125 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... |
OMIM:261515 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... |
ORPHA:93111 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Abno... |
OMIM:212065 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abdominal pain, Jaundice, Cirrhosis, G... |
OMIM:229600 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Hypothyroidism, Delayed puberty, Hepatocellular adenoma, Hypoglycemic... |
ORPHA:79259 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Pancreatic fi... |
ORPHA:699 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Macroglossia, Macrovesicular hepatic steatosis, ... |
OMIM:617303 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Exercise intolerance, Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Portal hypert... |
OMIM:613658 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hypothyroidism, Myopathy, Myalgia, Hep... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:99226 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Limb-girdle muscular dystrophy, Myalgia, Hepatic ste... |
OMIM:615356 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Gluc... |
OMIM:619127 |
Osteootohepatoenteric Syndrome |
|
Abdominal pain, Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis,... |
OMIM:619377 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Microvesicular hepatic steatosis, Decreased activity of mitochondr... |
OMIM:220111 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
Tenorio Syndrome |
|
Macroglossia, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Abdominal p... |
ORPHA:275761 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Nodular re... |
ORPHA:404454 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... |
ORPHA:3455 |
Ogden Syndrome |
|
Torticollis, Inguinal hernia, Maternal diabetes, Cardiomegaly, Cryptorchidism, Jaundice, Microves... |
OMIM:300855 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Hepatic steatosis, Limb hypertonia |
OMIM:615846 |
Friedreich Ataxia 2 |
|
Mitochondrial malic enzyme reduced, Diabetic ketoacidosis, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Microvesicular hepatic steatosis, Flexion contracture, Elbow flexi... |
OMIM:300868 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Hip pain, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Joint contracture of the 5th finger, Hepatic steatosis, Urinary incontinence |
OMIM:619934 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619573 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s... |
ORPHA:247598 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... |
ORPHA:79318 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Decreased response to grow... |
OMIM:619503 |
Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Fatigue, Elevated hepatic transaminase, Torticollis, Abdominal pain, Abnormal abdomen ... |
OMIM:619475 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Flexion contracture, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Abnormality of the spleen, Cryptorchidism, Hypothyroidism, Myopathy, Abn... |
ORPHA:1606 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Precocious puberty, Splenomegaly, Cryptorchidism, Cholestatic liver disease, Cirrho... |
OMIM:270400 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... |
OMIM:618278 |
Digeorge Syndrome |
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Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... |
OMIM:600001 |
Homozygous Familial Hypercholesterolemia |
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Sudden cardiac death, Tendon xanthomatosis, Abnormal tendon morphology, Arthralgia, Myocardial st... |
ORPHA:391665 |
Leukocyte Adhesion Deficiency |
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Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |