Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... |
ORPHA:435660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... |
ORPHA:79085 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... |
ORPHA:435651 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... |
ORPHA:280356 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... |
OMIM:612526 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... |
OMIM:615703 |
Multiple Symmetric Lipomatosis |
|
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance |
ORPHA:2398 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... |
OMIM:604367 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... |
ORPHA:293964 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... |
OMIM:610717 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... |
ORPHA:324575 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... |
ORPHA:79084 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... |
OMIM:608600 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... |
ORPHA:363400 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... |
ORPHA:181393 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... |
ORPHA:528 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance |
ORPHA:140941 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... |
OMIM:232700 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... |
ORPHA:276575 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... |
ORPHA:436182 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
ORPHA:280365 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... |
ORPHA:276580 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... |
OMIM:615381 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... |
OMIM:151660 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... |
ORPHA:171706 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... |
OMIM:615238 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... |
ORPHA:79237 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... |
ORPHA:276556 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... |
OMIM:306000 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... |
ORPHA:79086 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... |
ORPHA:2348 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... |
ORPHA:79083 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Failure to ... |
OMIM:613327 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... |
ORPHA:90970 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... |
OMIM:606069 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi... |
OMIM:617156 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... |
OMIM:619048 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... |
OMIM:616829 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... |
OMIM:617872 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... |
ORPHA:2298 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... |
ORPHA:71212 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia, Elevated circulating acylcarnitine co... |
ORPHA:26792 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:619386 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Insulin resistance |
OMIM:617885 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure |
OMIM:261650 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche, Insulin resistance |
OMIM:614662 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... |
OMIM:212140 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... |
OMIM:602579 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... |
ORPHA:369 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... |
OMIM:246200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Perlman Syndrome |
|
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia |
ORPHA:2849 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... |
OMIM:608594 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... |
OMIM:203800 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... |
ORPHA:79319 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... |
ORPHA:370 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... |
ORPHA:42 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... |
OMIM:278000 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... |
OMIM:269700 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... |
ORPHA:189439 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Lipase Deficiency, Combined |
|
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... |
ORPHA:264580 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... |
OMIM:232400 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Ascites, Failure to thrive, Depletion of mit... |
OMIM:251880 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia |
ORPHA:3085 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... |
ORPHA:444490 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun... |
OMIM:608709 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, El... |
OMIM:619013 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Cyanosis, Impaired gluconeog... |
OMIM:261680 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cre... |
ORPHA:228305 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis... |
ORPHA:848 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... |
ORPHA:247585 |
X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Leprechaunism |
|
Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Fail... |
ORPHA:508 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Scarring, Elevated hepatic iron concentration, Hepatocellular carcinoma, Ch... |
ORPHA:101330 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... |
ORPHA:2089 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Eunuchoid habitus, Hepatic steatos... |
ORPHA:91 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail... |
OMIM:256810 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... |
OMIM:614300 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase |
OMIM:617093 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... |
ORPHA:465508 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Neonatal hyperbilirubinemia, Insulin resistance, Failure... |
ORPHA:73272 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive |
OMIM:618234 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... |
ORPHA:769 |
Ddost-Cdg |
|
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... |
ORPHA:300536 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli... |
OMIM:616263 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... |
ORPHA:369840 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Short Syndrome |
|
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Diabetes melli... |
ORPHA:3163 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... |
OMIM:618805 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Hyperammonemia, Elevated creatine kinase after exercise, Hepatic steatosis, Ac... |
ORPHA:99901 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... |
ORPHA:567983 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... |
OMIM:220111 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... |
ORPHA:228308 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... |
OMIM:201450 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... |
OMIM:614921 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolemia, Failure to t... |
OMIM:212065 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... |
OMIM:619418 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Hyperlipidemia, Biliary tract abnormality, Multiple lipomas, Spleno... |
ORPHA:1414 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... |
ORPHA:75234 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Neonatal hypoglyc... |
OMIM:212138 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Lack of facial subcutaneous fat, Small for gestational age, Insulin-... |
ORPHA:2959 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal circulating lipid concentration, Weight loss, Lipodystrophy, Reduced subcutane... |
ORPHA:1979 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Obesity, Biliary tract abnor... |
ORPHA:3191 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... |
OMIM:606176 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating creatine kin... |
OMIM:615895 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Placental Insufficiency |
|
Hypoxemia, Small for gestational age, Insulin resistance |
ORPHA:439167 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... |
OMIM:618549 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Failure to thrive, Hyperammonemia, Elevated plasm... |
ORPHA:2394 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Hyponatremia, Insulin resistance, Splenomegaly, Hypothyroidism |
ORPHA:3452 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... |
ORPHA:98908 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Testicular atrophy, Hepatocellular carcinoma, Ascites, Glucos... |
OMIM:235200 |
Vipoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes mellitus, Intrahepati... |
ORPHA:97282 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased serum pyruvate |
OMIM:614741 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... |
ORPHA:79240 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Monosomy 13Q34 |
|
Hepatic steatosis, Infantile hypercalcemia, Obesity, Insulin resistance |
ORPHA:96168 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... |
ORPHA:139491 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase concentration, Amelogenesis... |
OMIM:614727 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Cirrh... |
OMIM:616860 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Obesity, P... |
ORPHA:254346 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Neonatal hypoglyce... |
ORPHA:348 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosi... |
ORPHA:71 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Insulin resistance, Truncal obesity, Left ventricular hypertrophy, Hypogonadism... |
OMIM:209900 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... |
ORPHA:2126 |
Somatostatinoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... |
ORPHA:97283 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... |
OMIM:608836 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... |
OMIM:613313 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Failure to thrive, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine... |
OMIM:614582 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Type II diabetes mellitus, Abnormal dental enamel morphology, Splenomegal... |
ORPHA:1133 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... |
ORPHA:79322 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Diabetes mellitus,... |
OMIM:616541 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypogly... |
OMIM:231530 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... |
OMIM:609069 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Hyperlipidemia, Insulin resistance |
ORPHA:90153 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Failure to thrive |
OMIM:210200 |
Short Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... |
OMIM:269880 |
Wilson Disease |
|
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... |
ORPHA:905 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Diabe... |
ORPHA:541423 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... |
OMIM:615438 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hepatocellular ca... |
ORPHA:79259 |
Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... |
OMIM:233805 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... |
ORPHA:79474 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hyperalaninemia |
OMIM:266150 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice |
OMIM:230350 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated circulating glutaric acid con... |
OMIM:231680 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis, Failure to thrive |
OMIM:614924 |
Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Increased se... |
OMIM:500009 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoglycemia |
OMIM:246900 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... |
OMIM:300635 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive |
OMIM:618958 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Hepatic steatosis, Failure to thrive |
ORPHA:70472 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gla... |
ORPHA:417 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hypoxemia, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic ... |
OMIM:615486 |
Werner Syndrome |
|
Thyroid carcinoma, Chondrocalcinosis, Type II diabetes mellitus, Insulin resistance, Lipodystroph... |
ORPHA:902 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... |
ORPHA:358 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Failure to thrive, Hepatomegaly, Type I diabetes mellitus |
ORPHA:251009 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Recurrent hypog... |
ORPHA:813 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hypocholesterolemia, Dec... |
ORPHA:14 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma... |
ORPHA:231226 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... |
ORPHA:98907 |
Pearson Syndrome |
|
Adrenal insufficiency, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitus, Hepatic st... |
ORPHA:699 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcyt... |
ORPHA:231214 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:225 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... |
ORPHA:890 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Failure to thrive, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic... |
OMIM:618329 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... |
OMIM:607765 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, H... |
OMIM:300972 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatic fibrosis, Ascites, Failure to thrive, Weight loss, Left ventricular hypertr... |
OMIM:619487 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Hypogonadotropic hypogonadism, Hyperalaninemia, Cirrhosis, Macrovesicular ... |
ORPHA:298 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypoparathyroidism, Hypoketotic hypoglycemia, Diffuse hepatic steat... |
ORPHA:746 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Steatorrhea, Cholestasi... |
ORPHA:440713 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... |
ORPHA:79301 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Ascites, Failure to thrive, Decreased liver function, Cholestasis, Hypothyroidism, ... |
OMIM:608104 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circ... |
ORPHA:26793 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Streak ovary, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... |
ORPHA:3464 |
Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... |
ORPHA:53693 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Central hypothyroidism, Ascites, Hyperbilirubinemia, Hyperammonemia, ... |
ORPHA:1667 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... |
OMIM:615630 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Glucagonoma |
|
Increased circulating cortisol level, Primary hyperparathyroidism, Steatorrhea, Diabetes mellitus... |
ORPHA:97280 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Lipoatrophy, Type II diabetes mellitus |
ORPHA:2833 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... |
OMIM:619662 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... |
OMIM:618641 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus |
OMIM:616026 |
Adrenomyodystrophy |
|
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, Failure to thrive, Pancreatitis, Hepatic steatosis, Hypermethioninemia, Ingu... |
OMIM:236200 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... |
ORPHA:157 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Camptodactyly of... |
OMIM:175700 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis, Incre... |
OMIM:602390 |
Galactosemia I |
|
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... |
OMIM:230400 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hepatic steatosis |
ORPHA:52430 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... |
OMIM:267700 |
Ppoma |
|
Increased circulating cortisol level, Intestinal carcinoid, Primary hyperparathyroidism, Intrahep... |
ORPHA:97278 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, ... |
OMIM:229600 |
Galactosemia |
|
Hepatomegaly, Hypergalactosemia, Decreased serum insulin-like growth factor 1, Ascites, Failure t... |
ORPHA:352 |
Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperammonemia, Elevated creatine k... |
ORPHA:159 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic failure, ... |
OMIM:235555 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... |
OMIM:613812 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly |
OMIM:615234 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... |
ORPHA:681 |
Overlap Myositis |
|
Abnormality of connective tissue, Abnormal circulating lipid concentration, Elevated circulating ... |
ORPHA:206572 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Hepatosplenomegaly, Hyperspleni... |
ORPHA:275761 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Adrenal insufficiency, Ascites, Splenomegaly, Steatorrhea, Hepatic failur... |
ORPHA:75233 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Hyperuricemia... |
OMIM:232200 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency |
ORPHA:977 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Panniculitis, Lipodystrophy, Splenomegaly, Hypertriglyceridemia,... |
OMIM:617591 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoglycemia, Unconjugated hyperbilirubinemia, Small for gestational age, Ascites, Failure to thr... |
OMIM:613658 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic ... |
OMIM:176270 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
OMIM:617713 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure |
OMIM:611126 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Failure to thrive, Decreased liver f... |
OMIM:124000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia, Left ventricular hypertrophy, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea, Failure to thrive |
OMIM:266510 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Ascites, Abnormal glucose ho... |
ORPHA:391673 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Glucose intolerance, Generalized lipodystrophy, Macrovesicular hepatic steatosis, L... |
OMIM:619127 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:99413 |
Turner Syndrome |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:881 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibrosis, Hyperlipidemia, Hashim... |
ORPHA:99226 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Hyperuricemia... |
OMIM:232220 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Contractures involving the joints of the feet, Hepatomegaly, Hypoxemia, Aplasia/Hypoplasia of the... |
ORPHA:456312 |
Grfoma |
|
Neoplasm of the thymus, Increased circulating cortisol level, Intestinal carcinoid, Primary hyper... |
ORPHA:97261 |
Classic Galactosemia |
|
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Ascites, Hepatic failur... |
ORPHA:79239 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Delayed puberty |
OMIM:615704 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia, Failure to thrive, Cholestatic liver disease |
ORPHA:5 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... |
ORPHA:2137 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... |
OMIM:615710 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased ... |
ORPHA:3008 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Failure to thrive, Glycosuria, Diffuse hepatic steatosis, Decreased liver function |
ORPHA:436271 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... |
ORPHA:158061 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Premature... |
ORPHA:96182 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Ascites, Failure to thrive, Hypertyrosinemi... |
OMIM:276700 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Hepatomegaly, Diabetes mellitus, Type I diabetes mellitus |
OMIM:560000 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Hyperammonemia, Recurrent hypoglyce... |
ORPHA:20 |
Rett Syndrome |
|
Failure to thrive, Hyperammonemia, Increased serum leptin, Cholecystitis, Increased serum pyruvate |
ORPHA:778 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Bloom Syndrome |
|
Small for gestational age, Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes m... |
ORPHA:125 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypokalemia, Small for gestational age, Ascites, Hepatic steatosis, Elevated circul... |
OMIM:619573 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis, Hypogonadism |
OMIM:619273 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Hepatomegaly, Failure to thrive, Bile duct proliferation, Primary adrenal insuffic... |
OMIM:261515 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Hypoalbuminemia, Ascites, Failure to thrive, Cirrhosis, Decreased liver function, H... |
ORPHA:367 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Hypogonadism, Decreased serum testosterone concent... |
OMIM:201100 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Pancreatitis, S... |
ORPHA:565612 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Hypoglycemia, Methylmalonic acidemia, Failure to thrive, Hepatic steatosis, Flexion... |
ORPHA:17 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... |
ORPHA:93111 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... |
ORPHA:99885 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Failure to thrive, B... |
OMIM:619525 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive, Cardiomegaly, Acrocyanosis, Lipo... |
ORPHA:349 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine |
OMIM:246450 |
B4Galt1-Cdg |
|
Hepatomegaly, Small for gestational age, Decreased LDL cholesterol concentration, Elevated circul... |
ORPHA:79332 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Spleno... |
OMIM:603553 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Hepatomegaly, Hypoglycemia, Failure to thrive |
OMIM:231670 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Increased serum serotonin, Increased circulating cortisol level, Weight loss, Pulmo... |
ORPHA:97287 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Hepatitis, Splenomegaly, Hypersplenism, Type I diabet... |
OMIM:613385 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poik... |
OMIM:618278 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... |
ORPHA:860 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Pancreatitis, Hyperglycinemia, Hyperammonemia |
OMIM:606054 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... |
ORPHA:171 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Flexion contracture of toe, Failure to thr... |
OMIM:256040 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Failure to thri... |
OMIM:619377 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Central hypothyroidism, Hyperlipidemia, Hyperglycemia, Premature adrenarche, Abnorm... |
ORPHA:293987 |
Wilson Disease |
|
Hepatomegaly, Hypoparathyroidism, Chondrocalcinosis, Hepatocellular carcinoma, Glycosuria, Cirrho... |
OMIM:277900 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... |
OMIM:610199 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Increased hepatocellular lipid droplets, Glycosuria, Decreased l... |
OMIM:220110 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hemobilia, Hy... |
ORPHA:88673 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly |
OMIM:614922 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Steatorrhea, Exocrine pancreatic insufficiency, Ja... |
OMIM:612714 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly |
ORPHA:79477 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, D... |
ORPHA:26791 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Macrovesicular hepatic steatosis, Flexion contracture, Hypoalbuminemi... |
OMIM:617303 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor... |
ORPHA:77293 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Hepatoblastoma, Hyperuricem... |
OMIM:232240 |
Alström Syndrome |
|
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:64 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:608779 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... |
OMIM:214950 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:567548 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... |
OMIM:601847 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Failure to thrive, Hepatitis, Decreased serum iron, Cirr... |
OMIM:614602 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... |
ORPHA:85451 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... |
ORPHA:540 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... |
OMIM:211600 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
Visceral Steatosis, Congenital |
|
Hepatic steatosis, Hypoglycemia, Hypocalcemia, Jaundice |
OMIM:228100 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... |
OMIM:306955 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... |
ORPHA:53035 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Limb joint contracture, Small for gestational age... |
ORPHA:404454 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level, Type II diabetes mellitus, Failure to thrive, Hypogonadotropi... |
ORPHA:3455 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Hypoglycemia, Failure to thrive, Diabetes mellitus, Increased serum pyruvate |
ORPHA:2609 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, A... |
ORPHA:186 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... |
OMIM:203700 |
Omenn Syndrome |
|
Hypoproteinemia, Hepatomegaly, Failure to thrive, Hypoplasia of the thymus, Splenomegaly |
OMIM:603554 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Neuroendocrine neoplasm, Ascites, Increased serum serotonin, Biliary tract obstruct... |
ORPHA:100085 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis |
OMIM:610198 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Weight loss, Absence of subcutaneous fat, Cyanosis, Severe failure to thrive,... |
ORPHA:740 |
Pmm2-Cdg |
|
Multiple joint contractures, Hepatic fibrosis, Insulin resistance, Failure to thrive, Hypogonadot... |
ORPHA:79318 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... |
OMIM:615356 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Anemia, Persistence of hemoglobin F, Acute myeloid l... |
OMIM:260400 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Adult-Onset Still Disease |
|
Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Splenomegaly, Elevated hepatic... |
ORPHA:829 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... |
ORPHA:234 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Thyroiditis, Elevated circulating C-reactive prote... |
OMIM:617388 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Hyperglycemia, Congenital diaphragmatic hernia, Failure to thrive, Aplasia... |
OMIM:600001 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Hypoamylasemia, Increased serum bile acid... |
ORPHA:811 |
Transketolase Deficiency |
|
Hepatomegaly, Type I diabetes mellitus, Elevated circulating ribitol concentration |
ORPHA:488618 |
Pediatric Hepatocellular Carcinoma |
|
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Abnormal circulating lipid concentration, Hepatitis, Splenomegaly, Jaundice |
ORPHA:381 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... |
ORPHA:131 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalcemia, Calcinosis, Failure ... |
OMIM:239200 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Weight loss, Panniculitis, Splenomegaly |
ORPHA:33577 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... |
ORPHA:79102 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Panniculitis, Splenomegaly, ... |
OMIM:615688 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Weight loss, Carcino... |
ORPHA:100080 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase level, Neutropen... |
ORPHA:124 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture |
OMIM:614008 |
Livedoid Vasculopathy |
|
Hyperhomocystinemia, Abnormal circulating lipid concentration, Atrophic scars, Diabetes mellitus,... |
ORPHA:542643 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Flexion contracture of toe, Hypergonadotropic hypogonadism, ... |
OMIM:602782 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Obesity, Precociou... |
OMIM:301066 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Hypophosphatemia, Hyperuricemia, Reactive hypoglycemia, Hypermagnesemia, Chronic he... |
ORPHA:469 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cir |