Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... |
ORPHA:2398 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... |
OMIM:612526 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Hypercholesterolemia, ... |
OMIM:615703 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Lymphocytosis, Insulin resistance |
ORPHA:79087 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... |
OMIM:604367 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy... |
OMIM:232700 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Increased intraabdominal fat, Hepatomegaly,... |
ORPHA:79085 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Failure to thrive... |
ORPHA:181393 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity |
ORPHA:140941 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Difficulty walking, Hepatome... |
OMIM:610717 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus, Hyperlipidemia, Abdomina... |
OMIM:615980 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Membranoproliferative glomerulonephritis, Hepatic stea... |
OMIM:608709 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutan... |
ORPHA:363400 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly... |
OMIM:606069 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance |
OMIM:614662 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Loss of subcutaneo... |
ORPHA:435651 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Pancreatitis, Insulin resistance, Maternal diabetes, Hepatic steatosis, Diabetes melli... |
ORPHA:79083 |
Congenital Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Adipose tissue loss, Insulin resistance, Hepatic steatosis, Lipodyst... |
ORPHA:528 |
Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus... |
ORPHA:2348 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adi... |
OMIM:151660 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase |
OMIM:618400 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... |
ORPHA:2457 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Lethargy, Ketotic hypoglycemia |
ORPHA:26792 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function, Hypercholesterolemia |
OMIM:616829 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyceridemia |
OMIM:615238 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Insulin resistance, Obesity, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... |
OMIM:301045 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Pancytopenia, Hepatic steatosis, Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:617872 |
Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... |
OMIM:278000 |
African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Hepa... |
ORPHA:139507 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Generaliz... |
ORPHA:79086 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619386 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619048 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Gout, Hypertriglyceridemia, Glucose intole... |
OMIM:610947 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Broad-based gait, Hepatic steatosis,... |
OMIM:618805 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Thrombocytopenia, Pneumo... |
ORPHA:2298 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Wilson Disease |
|
Cirrhosis, Anemia, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, He... |
ORPHA:905 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Cholestasis, Hypercholesterolemia,... |
ORPHA:209902 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Increased resting energy expenditure, Glucose intolerance |
ORPHA:369873 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Ataxia, Hepatic steatosis, Hypogl... |
ORPHA:42 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Lethargy, Macrovesicular h... |
OMIM:600649 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Hepatic... |
OMIM:613327 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Macrocytic anemia, H... |
OMIM:615438 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge... |
OMIM:261680 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Lethargy |
OMIM:201450 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Periportal fibrosis, Corneal scarring, Scarring, Hepatocellu... |
ORPHA:101330 |
Whipple Disease |
|
Anemia, Arthritis, Cachexia, Insulin resistance, Uveitis, Ataxia, Pericarditis, Myositis, Hepatom... |
ORPHA:3452 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... |
OMIM:269880 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Increased body weight, Elevated hepati... |
ORPHA:264580 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:370 |
Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Chronic oral candidiasis, T lymphocy... |
OMIM:616433 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Osteomyelitis leading to amputation due to slow healing fractures, Hepatocellular carcinoma, Hepa... |
OMIM:256810 |
Dysbetalipoproteinemia |
|
Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Gout, Xanthelasma, Hepatomegal... |
ORPHA:412 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Perianal abscess, Jaundice, Hepatosplenomegaly, He... |
ORPHA:444490 |
Ddost-Cdg |
|
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase, Failure to thrive |
ORPHA:300536 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Steatorrh... |
ORPHA:79303 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Hepatic necrosis, Elevated... |
ORPHA:71212 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Necrotizing enterocolitis, Nonketotic hypoglycemia,... |
OMIM:201475 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... |
ORPHA:71 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Insulin resistance, Increased adipose tissue, Hyperlipidemia |
ORPHA:199276 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... |
ORPHA:189439 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Inability to walk, Ataxia, Hepatic steatosis, Failure to thrive, Decreased liver function |
ORPHA:70472 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Anemia, Dysdiadochokinesis, Insulin resistance, Gait disturbance, Ataxia, Lymphopenia, Inguinal h... |
OMIM:616541 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... |
ORPHA:69663 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
Short Syndrome |
|
Weight loss, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes mellitus, Abnormal dent... |
ORPHA:3163 |
Lipodystrophy, Familial Partial, Type 7 |
|
Gait ataxia, Recurrent pancreatitis, Dysdiadochokinesis, Impaired glucose tolerance, Small for ge... |
OMIM:606721 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle glycogen content... |
OMIM:261750 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Elevated circulating alanine aminotransferase concentration, Elevat... |
OMIM:614582 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperinsulinemia, Chronic active hepatitis, Elevated hepatic transa... |
OMIM:203800 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, No... |
OMIM:610198 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, T lymphocytopenia, Small for gestational age, Neoplasm of the pancre... |
ORPHA:2959 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... |
OMIM:231530 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Increased body weight, Dorsocervical fa... |
ORPHA:189427 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity |
ORPHA:73272 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal granulocyte morphology, Elevated hepatic transaminase, Increased intramyocellular lipid ... |
ORPHA:98907 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... |
OMIM:212138 |
Bloom Syndrome |
|
Acute myeloid leukemia, Rhinitis, Abnormal proportion of CD8-positive T cells, Skin rash, Small f... |
ORPHA:125 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Micro... |
OMIM:619013 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... |
ORPHA:567983 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Lethargy, Failure to thrive |
OMIM:210200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase... |
OMIM:300972 |
Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Flexion contracture, Choreoathetosis, Neonatal hypoglycemia, Ataxia, Hepatic steatosi... |
OMIM:616271 |
Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Xa... |
ORPHA:79259 |
Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hepatic steatosis, Ele... |
ORPHA:2137 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Elevated hepatic transaminase, Camptodactyly, Ataxia,... |
ORPHA:79322 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Truncal ataxia, Elevated hepatic transaminase, Hepatic steatosis, Difficulty walking, Hepatomegal... |
ORPHA:369840 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Polysplenia, Macronodular cirrhosis, Neonata... |
OMIM:619418 |
Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
Bangstad Syndrome |
|
Small for gestational age, Progressive cerebellar ataxia, Pancytopenia, Insulin-resistant diabete... |
OMIM:210740 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Hyperlipidem... |
ORPHA:91 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Achilles tendon contracture, Steatorrhea, Ataxia, Hepatic steatosis, Diabetes m... |
OMIM:616263 |
Werner Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Slender build, Lipoatrophy, Chondro... |
ORPHA:902 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Weight loss, Jaundice, Nonketotic hypoglycemia, Elevated hepatic transaminase... |
ORPHA:20 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Anemia, Glycosuria, Diffuse hepatic steatosis, Gait disturbance, Ataxia, Failure to thrive, Hepat... |
ORPHA:436271 |
Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Chronic pancreatitis, Elevated hepatic transaminase, Inc... |
ORPHA:98908 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci... |
OMIM:605814 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Elevated he... |
OMIM:212065 |
Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Insulin resistance |
ORPHA:96168 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Infecti... |
ORPHA:445038 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Ataxia, Hepatomegaly |
OMIM:275630 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia |
ORPHA:90154 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Hepatic steatosis, Hepa... |
ORPHA:228305 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, T... |
OMIM:611126 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Thr... |
ORPHA:99901 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Gait imbalance, Insulin resistance, Ataxia, Biliary tract abnormality, Diabetes... |
OMIM:209900 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Small for gestational age, Hypoglycemia, Postprandial hy... |
OMIM:262190 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Rhinitis, Anemia, Insulin resistance, Hypoglycemia |
ORPHA:230 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Diabetic ketoacidosis, Reduced subcutaneous adipose tissue, Insulin r... |
ORPHA:769 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Anemia, Hemolytic anemia, Weight loss, Chilblains, Elevated hepatic transaminas... |
OMIM:619487 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Elevated circulating alanine aminotransferase concentration, Elbow flex... |
OMIM:608836 |
Abetalipoproteinemia |
|
Gait ataxia, Hepatic fibrosis, Cirrhosis, Anemia, Keratoconjunctivitis sicca, Elevated hepatic tr... |
ORPHA:14 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Lethargy, Decreased liver function, Hepatomegaly |
OMIM:614922 |
Silver-Russell Syndrome |
|
Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thrive in infancy |
ORPHA:813 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Tip-toe gait, Diffuse hepatic steatosis, Chronic hepatic failure, Chole... |
ORPHA:746 |
Interstitial Lung And Liver Disease |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic... |
OMIM:615486 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Cirrhosis, Anemia, Weight loss, Cachexia, Elevated hepatic transaminase, Macrovesicular hepatic s... |
ORPHA:298 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Anemia, Glycosuria, Truncal ataxia, Increased intramyocellular lipid droplets, Ataxia, Failure to... |
OMIM:220110 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Cirrhosis, Jaundice, Elevated hepatic transami... |
OMIM:617156 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ... |
OMIM:614300 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis |
OMIM:231680 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... |
ORPHA:348 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Anemia... |
ORPHA:275761 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Hepatic steatosis, Waddling gait |
ORPHA:52430 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Imp... |
OMIM:248370 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Hepatic steatosis, Inguinal hernia, Failure to thrive, Pancreatitis |
OMIM:236200 |
Gitelman Syndrome |
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Tubulointerstitial nephritis, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the p... |
ORPHA:358 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Flexion contracture, Anemia, Inability to walk, Nephritis, Recurrent pn... |
OMIM:617303 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Atrophic gastritis,... |
OMIM:619573 |
Wilson Disease |
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Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Anemia, ... |
OMIM:277900 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Ataxia, Lipodystrophy, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Pearson Syndrome |
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Hepatic failure, Anemia, Abnormality of the liver, Glycosuria, Small for gestational age, Elevate... |
ORPHA:699 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Obesity, Arthrogryposis multiplex congenita, Hyperlipidemia |
ORPHA:254346 |
Dilated Cardiomyopathy With Ataxia |
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Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated hepatic transaminase, ... |
ORPHA:66634 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Inability to walk, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Hepatic steatosis, Diff... |
OMIM:615356 |
Leprechaunism |
|
Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subcutaneous adipose tissue,... |
ORPHA:508 |
Thalidomide Embryopathy |
|
Chronic rhinitis, Insulin resistance |
ORPHA:3312 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Hyperglycemi... |
OMIM:124000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive |
ORPHA:977 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Hepatic failure, Hepatic steatosis, Hepat... |
ORPHA:228308 |
Bloom Syndrome |
|
Malar rash, Bronchiectasis, Small for gestational age, Type II diabetes mellitus, Hepatic steatos... |
OMIM:210900 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Lethargy, Hypoglycemia |
OMIM:228100 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Anemia, Increased hepatic echogenici... |
OMIM:619525 |
Fructose Intolerance, Hereditary |
|
Cirrhosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... |
OMIM:229600 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct proliferation, Decrease... |
OMIM:618329 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Portal fibrosis, Failure... |
OMIM:619377 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Esophagitis, Insulin resistance, Failure to thrive, Fasting hypoglycemia |
ORPHA:96182 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Arthritis, Jaun... |
ORPHA:93111 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Atrophic gastritis, Anemia, Hemolytic anemia, Weight loss, Hepatitis, Skin ras... |
OMIM:615846 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Choreoathetosis, Elevated hepatic transaminase, Increased intramyocellular l... |
ORPHA:17 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Anemia, Slender build, Small for gestational age, Elevated hepatic transaminase, Pancy... |
OMIM:613658 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... |
OMIM:619991 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Inability to walk, S... |
ORPHA:404454 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... |
OMIM:618278 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Anemia, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Cholestas... |
ORPHA:247598 |
D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Elevated hepatic transaminase, Hepatic steatosis, Failur... |
OMIM:261515 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Glycosuria, Type II diabetes mellitus, Hepatic steatosis... |
ORPHA:79474 |
Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Falls, Inability to walk, Insulin resistance, Elevated hepatic transaminase, Ga... |
ORPHA:273 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, Glucose intolerance, Elevated hepatic transaminase, Generalized lipodystroph... |
OMIM:619127 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... |
ORPHA:99413 |
Turner Syndrome |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... |
ORPHA:99228 |
Monosomy X |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Thyr... |
ORPHA:99226 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Ataxi... |
OMIM:203700 |
Arima Syndrome |
|
Hepatic fibrosis, Cirrhosis, Anemia, Ataxia, Hepatic steatosis, Hepatomegaly |
OMIM:243910 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Cirrhosis, Flexion contracture, Hip contracture, Microvesicular hepatic... |
OMIM:300868 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Slender build, Truncal ataxia, Reduced subcutaneous adipose tissue, Type... |
ORPHA:3455 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Osteomyelitis, Tip-toe gait, Falls, Decreased body weight, Jaundice, Elevated hepatic transaminas... |
OMIM:619475 |
Hutchinson-Gilford Progeria Syndrome |
|
Shuffling gait, Weight loss, Insulin resistance, Severe failure to thrive, Osteoarthritis, Absenc... |
ORPHA:740 |
Ogden Syndrome |
|
Microvesicular hepatic steatosis, Minimal subcutaneous fat, Jaundice, Maternal diabetes, Eczema, ... |
OMIM:300855 |
Alström Syndrome |
|
Elevated hepatic transaminase, Recurrent sinusitis, Dorsocervical fat pad, Hepatic steatosis, Hep... |
ORPHA:64 |
Smith-Lemli-Opitz Syndrome |
|
Cirrhosis, Eczema, Recurrent otitis media, Hepatic steatosis, Failure to thrive, Hepatomegaly, Ch... |
OMIM:270400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Truncal ataxia, Small for gestational age, Ataxia, Inguinal her... |
OMIM:220111 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Knee flexion contracture, Enamel hypoplasia, Atopic dermatitis, Flexion contracture, Hip contract... |
OMIM:619503 |
Digeorge Syndrome |
|
Anemia, Femoral hernia, Hypoplasia of the thymus, Recurrent sinusitis, Recurrent otitis media, He... |
OMIM:188400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hepatic steatosis, Flexion contracture, Abdominal obesity, Leukocytosis |
OMIM:619321 |
Pmm2-Cdg |
|
Hepatic fibrosis, Hyperinsulinemia, Aspiration pneumonia, Multiple joint contractures, Abnormal s... |
ORPHA:79318 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Abnormality of the liver, Gait disturbance, Hepatic steatosis, Failure t... |
ORPHA:1606 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Myxoid/Round Cell Liposarcoma |
|
|
ORPHA:99967 |