Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Lipodystrop... |
ORPHA:528 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
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 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemi... |
ORPHA:276575 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
ORPHA:280365 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
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, Increased C-peptide level, Large for gestational age, Hyperinsul... |
ORPHA:276580 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:151660 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogl... |
ORPHA:276556 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:2348 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... |
ORPHA:369 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyper... |
OMIM:602579 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... |
ORPHA:79319 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypergonado... |
OMIM:203800 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate amino... |
OMIM:617253 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... |
ORPHA:189427 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Acute pancreatitis, Dec... |
ORPHA:412 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... |
OMIM:619013 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... |
ORPHA:2088 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Anemia |
ORPHA:75563 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
ORPHA:247585 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... |
ORPHA:848 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:91 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Insulin resistance, Insul... |
OMIM:269880 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... |
OMIM:214150 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Very long c... |
ORPHA:98908 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... |
ORPHA:73272 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
ORPHA:79303 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age |
ORPHA:439167 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... |
OMIM:608836 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract... |
OMIM:616263 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypergonado... |
ORPHA:2959 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas |
ORPHA:210548 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... |
ORPHA:71 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
ORPHA:2394 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... |
OMIM:256810 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat... |
ORPHA:3191 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... |
OMIM:246900 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity |
ORPHA:96168 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:90301 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, ... |
ORPHA:254346 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Hypogonadism, Obesity |
OMIM:615996 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated... |
ORPHA:79240 |
Werner Syndrome |
|
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... |
ORPHA:902 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnor... |
ORPHA:79474 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... |
ORPHA:2126 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, A... |
OMIM:212065 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... |
ORPHA:348 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... |
ORPHA:1133 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... |
OMIM:616541 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive, Hepatocel... |
ORPHA:79259 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Abnormality of connective tissue |
ORPHA:36382 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... |
OMIM:613404 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... |
ORPHA:813 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia,... |
ORPHA:358 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ... |
ORPHA:14 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... |
OMIM:300972 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:225 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp... |
ORPHA:746 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran... |
ORPHA:681 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypert... |
OMIM:619487 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus |
ORPHA:2833 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P... |
OMIM:236200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... |
OMIM:615453 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... |
OMIM:175700 |
Galactosemia I |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... |
OMIM:230400 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... |
OMIM:266510 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosp... |
ORPHA:275761 |
Glucagonoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97280 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... |
OMIM:609069 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... |
OMIM:232200 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Hypo... |
OMIM:608104 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large... |
OMIM:616026 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Failure to thrive, Hypoglycemia, Small for gestat... |
OMIM:613658 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Elevated circulating acylcarnitine concent... |
ORPHA:159 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
Kennedy Disease |
|
Abnormal circulating lipid concentration, Testicular atrophy, Type II diabetes mellitus |
ORPHA:481 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... |
OMIM:619991 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... |
OMIM:619127 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Stea... |
ORPHA:75233 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97278 |
Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contr... |
ORPHA:456312 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... |
OMIM:617591 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic... |
ORPHA:20 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia... |
ORPHA:391673 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive |
ORPHA:436271 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... |
ORPHA:66634 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... |
ORPHA:125 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Flexion contra... |
ORPHA:17 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... |
ORPHA:367 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t... |
OMIM:251000 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin, Failure to thrive |
ORPHA:778 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Failur... |
ORPHA:3008 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... |
OMIM:610198 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Hepatic steatosis, Type II diabetes mellitus, Small for gestational age |
OMIM:210900 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Hepatomegaly, Failure to thrive |
OMIM:560000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja... |
OMIM:603553 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Acroc... |
ORPHA:349 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:256040 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... |
OMIM:220110 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:612714 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99226 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Increased circulating ACTH level... |
ORPHA:97287 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemi... |
OMIM:276700 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypoalbuminemia, Macrovesicular hepatic steatosi... |
OMIM:617303 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Glutaric Acidemia I |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration |
OMIM:231670 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Decreased HDL c... |
ORPHA:77293 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Cyanosis, Decreased response to growth hormone stimu... |
ORPHA:293987 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n... |
OMIM:619769 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin... |
OMIM:260370 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for... |
ORPHA:404454 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... |
OMIM:232240 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive |
ORPHA:2609 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... |
ORPHA:470 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperthyroidism, Hypertriglyceridemia, Hy... |
ORPHA:3455 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... |
ORPHA:79318 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Abnormality of the thyroid gland, ... |
ORPHA:186 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... |
OMIM:615356 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat... |
OMIM:600001 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Hypothyroidism, Increased circulating ferritin concentration, Hepatit... |
OMIM:615846 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... |
OMIM:260400 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Precocious puberty, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Eleva... |
OMIM:270400 |
Transketolase Deficiency |
|
Type I diabetes mellitus, Hepatomegaly, Elevated circulating ribitol concentration |
ORPHA:488618 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly, Jaundice, Hepatitis, Ascites |
ORPHA:381 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... |
OMIM:239200 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
Shwachman-Diamond Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Diabetes mellitus, Decreased resp... |
ORPHA:811 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Hyper... |
OMIM:220111 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating C-reactive... |
OMIM:615688 |
Budd-Chiari Syndrome |
|
|