Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... |
OMIM:232700 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Hepatomegaly |
OMIM:615924 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Incre... |
OMIM:616516 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... |
OMIM:619048 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria |
|
Mitochondrial lysine transport defect |
OMIM:238710 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Hy... |
ORPHA:280356 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hyperuricemia, H... |
OMIM:306000 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... |
OMIM:607616 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... |
OMIM:618528 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Hypertension, Hepatic steatosis |
OMIM:613877 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... |
OMIM:603552 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Abnormal mitochondrial morphology, Decreased a... |
OMIM:618378 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Increased C-peptide level |
OMIM:615238 |
Combined Oxidative Phosphorylation Deficiency 46 |
|
Decreased liver function, Decreased activity of mitochondrial complex IV, Decreased activity of m... |
OMIM:618952 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... |
OMIM:613027 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... |
ORPHA:1344 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance |
ORPHA:140941 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... |
ORPHA:71212 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... |
ORPHA:209902 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Hepatic failure, Stea... |
OMIM:278000 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Decreased body weight, Pulmonic stenosis, Mitral regurgitation, Sick sinus syn... |
OMIM:616201 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:300635 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly |
OMIM:609016 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate amin... |
OMIM:615558 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:255120 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Decr... |
OMIM:604367 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... |
OMIM:607765 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus |
ORPHA:181393 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance |
OMIM:614662 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Gait ataxia, Hepatic steatosis |
ORPHA:363400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hypertri... |
ORPHA:435651 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly |
OMIM:613101 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Multiple joint contractures, Slender build, Decreased mi... |
ORPHA:352470 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia |
OMIM:617885 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, C... |
OMIM:618234 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... |
ORPHA:247585 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Tachycardia, Elevated circula... |
OMIM:613327 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circula... |
OMIM:212138 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase... |
ORPHA:26793 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hepatomegaly, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Lipo... |
ORPHA:528 |
Hyperlipoproteinemia, Type Id |
|
Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholesterol concent... |
OMIM:615947 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hepatomegaly, Loss... |
OMIM:151660 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... |
OMIM:619868 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:619386 |
Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystroph... |
ORPHA:90970 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... |
OMIM:616299 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ... |
OMIM:212140 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Truncal ataxia, Abnormal circulating creatine kinase concentration, Elevated hepati... |
ORPHA:369840 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Elevated hepatic transaminase, Lipodystr... |
OMIM:615381 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Hypertriglyceridemia, Lipodyst... |
ORPHA:2348 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia, Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:95717 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Elevated transferrin satur... |
OMIM:606069 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Decreased activit... |
OMIM:614924 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Dysdia... |
OMIM:277460 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... |
OMIM:238600 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Lethargy |
ORPHA:26792 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, ... |
OMIM:614300 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Loss of s... |
ORPHA:79083 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... |
ORPHA:369 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... |
OMIM:618805 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... |
OMIM:615745 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Decreased activity of the pyruvate dehydrogenase complex, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Flexion contracture, Hypertrophic cardiomyopathy |
OMIM:618815 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... |
ORPHA:567983 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Lethargy |
OMIM:307030 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Increased adipose tissue around... |
ORPHA:280365 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration,... |
ORPHA:98907 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Splenomegaly... |
OMIM:267700 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... |
ORPHA:158061 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Ddost-Cdg |
|
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis |
ORPHA:300536 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... |
ORPHA:370 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Joint contracture of the 5th finger, Acrocyanosis, Atrioventricular block, Bra... |
OMIM:614407 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystrophy, Acu... |
ORPHA:79086 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Neonatal death |
OMIM:615918 |
Tricarboxylic Acid Cycle, Defect Of |
|
Decreased activity of the pyruvate dehydrogenase complex |
OMIM:275370 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... |
ORPHA:71 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... |
ORPHA:1414 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased circulati... |
ORPHA:444490 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly |
OMIM:618398 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Flexion contracture, Bradycardia |
OMIM:614498 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... |
ORPHA:228305 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Cyanosis, Low-output congestive heart failure, Abnormality of the mitochondrio... |
ORPHA:91130 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis |
ORPHA:209919 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Acute... |
ORPHA:99901 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:2088 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Failure to thrive, Inguinal hernia, Decreased activity of mitochondrial complex I, Pulmonary arte... |
OMIM:619272 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Lethargy |
OMIM:201450 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased... |
OMIM:618620 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Syncope, Atrial fibrillat... |
OMIM:163800 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Hepato... |
ORPHA:264580 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Decreased activity of mitochondrial complex IV, Hype... |
ORPHA:70472 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Bradycardia, Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226313 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Sudden cardiac death,... |
OMIM:201475 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:95716 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Palpitations, Arrhythmia, ST segment elevation, T-wave inversion,... |
ORPHA:263297 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachycardia, Hypotension, Hypoxemia, Cardiac arrest, Bradycardia |
ORPHA:70587 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Splenomegaly... |
OMIM:603553 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... |
ORPHA:79303 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Hyperammonemia, Camptodactyly, Hypoglutaminemia, Bradycardia |
OMIM:610015 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Lethargy |
ORPHA:156 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Elevated hepatic transaminase,... |
OMIM:212065 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... |
ORPHA:79240 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... |
ORPHA:101016 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... |
ORPHA:905 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Increased circulating brain natriuretic pepti... |
OMIM:601494 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Barth Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Arrhythmia, Abnormal mitochondrial morphology, Increa... |
OMIM:302060 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... |
OMIM:616278 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus |
ORPHA:90301 |
Timothy Syndrome |
|
Hypocalcemia, Prolonged QT interval, Cardiomegaly, Bradycardia |
OMIM:601005 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Ataxia, Hypoalbuminemia |
OMIM:617575 |
Sepsis In Premature Infants |
|
Decreased liver function, Decreased body weight, Hepatomegaly, Elevated circulating C-reactive pr... |
ORPHA:90051 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... |
ORPHA:98855 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Lethargy |
ORPHA:2089 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Griscelli Syndrome Type 1 |
|
Ataxia, Hyperlipidemia |
ORPHA:79476 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... |
OMIM:256810 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglycerid... |
OMIM:203800 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Seckel Syndrome 10 |
|
Glucose intolerance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:617253 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... |
OMIM:613070 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... |
ORPHA:98863 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Umbilic... |
ORPHA:90674 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... |
ORPHA:98853 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:617591 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Palpitations, Tach... |
ORPHA:276556 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Dilated cardiomyopath... |
OMIM:231530 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Splenom... |
OMIM:608594 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Splenomegaly, Hyperproteinemi... |
ORPHA:158048 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevated hepatic transaminas... |
OMIM:613812 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Persistent fetal circulation, Small for gestational age, Elevated circulating cre... |
OMIM:618775 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Corneal scarring, Viral hepatitis, Periportal fibro... |
ORPHA:101330 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:228308 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Ascites, Cardiomyopathy, Cardiomegaly,... |
OMIM:261740 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Palpitations, Tach... |
ORPHA:276575 |
Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Hypotension, Shock, Hyponatremia, Ascites, Bradycardia |
ORPHA:391673 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:618810 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... |
ORPHA:98908 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hy... |
ORPHA:189427 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen |
OMIM:619313 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac death, Elevat... |
OMIM:614921 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Elevated circulating alanine amin... |
OMIM:261680 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Sudden cardiac death, Dilated cardiomyopathy, Noncompaction car... |
OMIM:610198 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... |
OMIM:608836 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration, Decreased... |
ORPHA:352447 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Sple... |
OMIM:300972 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hepatomegaly, Splenom... |
OMIM:269700 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Mitral regurgitation, Arrhythmia, Aortic regurgitation, Arthrogryposis multiplex ... |
ORPHA:254346 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hy... |
ORPHA:189439 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Elevated hepatic transaminase, Ascites, Bradycardia |
OMIM:617397 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Myocar... |
OMIM:236200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, At... |
ORPHA:77293 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Increased C-peptide level, Palpitations, Tachycardia, Sy... |
ORPHA:324575 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Microvesicular hepatic steatosis, Hepatic failure, Steatorrhea, Hepatos... |
ORPHA:275761 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79477 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Steatorrhea, Elevated hepatic tr... |
OMIM:235555 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Elevated circulating alanine aminotransferase conc... |
OMIM:277700 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Abnormality... |
ORPHA:298 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly |
OMIM:619802 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Neonata... |
ORPHA:90673 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Hepatic fa... |
ORPHA:470 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating... |
OMIM:615486 |
Adrenomyodystrophy |
|
Hepatic steatosis |
OMIM:300270 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreat... |
OMIM:619487 |
Chanarin-Dorfman Syndrome |
|
Ataxia, Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Abnormal mitochondrial shape, Elevated hepa... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia, Decreased activity of mitoch... |
OMIM:616672 |
Tetanus |
|
Hypertension, Tachycardia, Elevated circulating creatine kinase concentration, Bradycardia |
ORPHA:3299 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Palpitations, Tach... |
ORPHA:276580 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Smith-Magenis Syndrome |
|
Gait disturbance, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Ascites |
OMIM:618183 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Failure to thrive, Bradycardia |
OMIM:220120 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated cardiom... |
OMIM:611126 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Supraventricular arrhythmia, Small for ges... |
ORPHA:2959 |
Alg12-Cdg |
|
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Elevated hepatic transamina... |
ORPHA:79324 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Elevated ... |
ORPHA:94093 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic f... |
OMIM:616263 |
Congenital Analbuminemia |
|
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small for gestational age, Increased alpha-g... |
ORPHA:86816 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Hepatic steatosis, Cardiomyopathy, Congestive... |
ORPHA:52430 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular ca... |
ORPHA:79259 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Left ventricular hypertrophy, Hepatosplenomegaly |
ORPHA:31150 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Hyperuricemia, Neonatal hyperbilirubine... |
ORPHA:348 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhyt... |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly, Lethargy |
OMIM:614922 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Hepatomegaly, Abnormal P wave, Left-to-right sh... |
ORPHA:1329 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Elevated... |
OMIM:231680 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Small... |
ORPHA:860 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Decreased liver function, Ataxia, Inability to walk... |
ORPHA:167 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Cimdag Syndrome |
|
Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Bradycardia |
ORPHA:565624 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance |
ORPHA:73272 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Hepatomegaly, Subdural hemorrhage, Hepatic failure, Hemothorax, Myocardit... |
ORPHA:99827 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... |
OMIM:203700 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration |
OMIM:619518 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Jaundice, Neonatal death, Hepatic steatosis, Lethargy |
OMIM:228100 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of the mitochondrion |
ORPHA:330050 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Weight loss, Bradycardia, Syncope |
ORPHA:221098 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Hepatomegaly, Joint contracture of the hand, Jaundice, Elevated circulating lo... |
OMIM:214110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets |
OMIM:220111 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure... |
OMIM:619573 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Flexion contracture, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
ORPHA:70 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hyperaldosteronism,... |
ORPHA:90363 |
Wilson Disease |
|
Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Sp... |
OMIM:277900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Elevated circulating creatine kinase concentration, Syncope, Second degree atrioven... |
OMIM:616812 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Lethargy |
OMIM:210200 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia |
ORPHA:363618 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
H Syndrome |
|
Hypertriglyceridemia, Hepatosplenomegaly, Enlarged kidney |
ORPHA:168569 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Myocarditis, Hypotens... |
ORPHA:319213 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, ... |
OMIM:619377 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Palpitations, Hyponatremia, Obesit... |
ORPHA:91355 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Ataxia, Inability to walk, Hepatomegaly, Elevated circulating creatine kinase concentration, Athe... |
OMIM:615356 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... |
ORPHA:90041 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Severe failure to thrive, Bilateral wrist flexion contracture, ... |
ORPHA:97297 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:157 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Abnormality of mitochondrial metabolism |
ORPHA:1192 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Macrovesicular hepatic steatosis, Enlarged kidne... |
OMIM:617303 |
Monosomy 13Q34 |
|
Pulmonic stenosis, Hematochezia, Obesity, Infantile hypercalcemia, Hepatic steatosis, Epistaxis |
ORPHA:96168 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Prolonged neonatal jaundice, Hepatic failure, Cirrhosis, Hepat... |
OMIM:118450 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Diabetic ketoacidosis, Impaired glucose tolerance... |
ORPHA:769 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
Whipple Disease |
|
Insulin resistance, Hepatomegaly, Splenomegaly |
ORPHA:3452 |
Graft Versus Host Disease |
|
Failure to thrive, Hyperbilirubinemia, Dupuytren contracture, Chronic hepatitis, Hepatosplenomega... |
ORPHA:39812 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Elevated hemoglobin A1c, Left ventricular hypertrophy, Macrovesicular hepatic steat... |
OMIM:619127 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, S... |
ORPHA:699 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Pancreatitis, Hyperammonemia, Hypovolemia, Tachycardia, Elevated circulating creatin... |
ORPHA:99826 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated h... |
OMIM:232200 |
Yellow Fever |
|
Supraventricular arrhythmia, Hematemesis, Hyperbilirubinemia, Pancreatic hyperplasia, Elevated ci... |
ORPHA:99829 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Elevated hepatic t... |
OMIM:618329 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Abnormality of mitochondrial metabolism |
ORPHA:33355 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile d... |
OMIM:261515 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Elevated carcinoembryonic antigen level, Hypoxemia, Abnormal circulating protein con... |
ORPHA:264675 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Hypotension, Acu... |
ORPHA:20 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis, Hypertrophi... |
ORPHA:436271 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Spleno... |
OMIM:270400 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transam... |
OMIM:229600 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Inguinal hernia, Small ... |
OMIM:613658 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... |
ORPHA:2442 |
Sialuria |
|
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Abnormality of t... |
ORPHA:3166 |
3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Flexion contracture, Congestive heart failure |
OMIM:616271 |
Silver-Russell Syndrome |
|
Insulin resistance, Recurrent hypoglycemia |
ORPHA:813 |
Werner Syndrome |
|
Insulin resistance, Type II diabetes mellitus |
ORPHA:902 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... |
OMIM:619991 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia |
OMIM:244450 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Hepatomegaly, Cy... |
ORPHA:137675 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90154 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Palpitations, Tachycardia, Hypokalemia |
OMIM:188580 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Eleva... |
OMIM:124000 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Diabetes mellitus |
OMIM:616541 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, He... |
ORPHA:404454 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Bradycardia |
OMIM:218700 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Failure to thrive, Abnormal mitochondrial shape |
ORPHA:543470 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Hyperlipidemia, Increased LDL cholesterol co... |
ORPHA:391665 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Inguinal hernia |
OMIM:223370 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Cardiomyopathy |
ORPHA:445038 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Bradycardia, Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226307 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hepatic fibrosis, Biliary tract abnormality, Diabetes mellitus |
OMIM:209900 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hematemesis, Splenomegaly, Vasculitis... |
OMIM:615846 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Elevated hepa... |
ORPHA:66634 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Decreased HDL ... |
OMIM:256040 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Left ventricular hypertrophy, Palpitations, Elevated circulating creatine kina... |
ORPHA:254892 |
Hsd10 Disease, Infantile Type |
|
Hyperammonemia, Cyanosis, Hypertrophic cardiomyopathy, Abnormality of mitochondrial metabolism, C... |
ORPHA:391428 |
Lipodystrophy, Familial Partial, Type 7 |
|
Dysmetria, Dysdiadochokinesis, Hypertriglyceridemia, Gait ataxia, Recurrent pancreatitis, Hyperch... |
OMIM:606721 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Hepatomegaly, Inguinal hernia, Splenomegaly, Elevated circulating aspartate am... |
OMIM:619525 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Decreased body weight, Aortic valve stenosis, Lipo... |
ORPHA:79474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Increased hepatocellular lipid droplet... |
OMIM:220110 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Congenital diaphragmatic hernia, Inguinal hernia, Bradycardia |
OMIM:614437 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Glucose intolerance, Type II diabetes mellitus, Diabetic ketoacidosis, ... |
ORPHA:358 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase co... |
ORPHA:565612 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Failure to thrive, Enamel hypoplasia, Abnormal blood ion concentration, Dilated cardiomyopathy, B... |
ORPHA:79404 |
Leprechaunism |
|
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Fasting hypoglyce... |
ORPHA:508 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Paroxysmal supraventricular tachycardia, Bradycardia |
OMIM:601375 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Small for gestational age, Elevated hemo... |
OMIM:210900 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Insulin resistance |
ORPHA:96182 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Bloom Syndrome |
|
Insulin resistance, Azoospermia, Oligospermia, Diabetes mellitus |
ORPHA:125 |
Ogden Syndrome |
|
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Microvesicular h... |
OMIM:300855 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat... |
OMIM:618278 |
Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia |
OMIM:243910 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Microvesicular hepatic steatosis, Hepatomegaly, Flexion contracture, Cirrhosis, ... |
OMIM:300868 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Eleva... |
ORPHA:93111 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hyperlipidemia, Cirrhosis, Elevated hepatic transaminase, Myocardial i... |
ORPHA:99226 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Azotemia, Hepatic steatosis, Flexion contracture |
OMIM:619321 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia |
OMIM:248370 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Hyperbilirubinemia, Tachycardia, Elevated hepatic transam... |
ORPHA:521219 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Failure to thrive, Abnormal abdomen morphology, Decreased body weight, Jaundice, Hyperbilirubinem... |
OMIM:619475 |
Rh Deficiency Syndrome |
|
Hyperbilirubinemia, Hepatosplenomegaly, Tachycardia, Reduced haptoglobin level, Hypoxemia, Jaundice |
ORPHA:71275 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Hyperinsulinemia, Elevated hepatic transaminase, Diabetes mellitus, Insulin resis... |
ORPHA:273 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Slender build, Failure to thrive, Lipoatrophy, Pulmonic sten... |
ORPHA:3455 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
1P36 Deletion Syndrome |
|
Annular pancreas, Failure to thrive, Camptodactyly of finger, Abnormality of the spleen, Dilated ... |
ORPHA:1606 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Ascites |
ORPHA:567546 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Truncal ataxia |
OMIM:264090 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hypomagnesemia, Hypocalcemia, Failure to th... |
OMIM:619503 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced |
OMIM:601992 |
Digeorge Syndrome |
|
Cholelithiasis, Hypocalcemia, Inguinal hernia, Splenomegaly, Femoral hernia, Umbilical hernia, Ob... |
OMIM:188400 |
Alström Syndrome |
|
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Dorsocervical fat pad, Sp... |
ORPHA:64 |
Friedreich Ataxia And Congenital Glaucoma |
|
Diabetic ketoacidosis, Decreased pyruvate carboxylase activity, Mitochondrial malic enzyme reduced |
OMIM:229310 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance |
ORPHA:740 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia |
OMIM:241080 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Abnormality of Krebs cycle metabolism, Hepatomegaly, Hepatic failure |
ORPHA:255210 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia |
ORPHA:3464 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
Pmm2-Cdg |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hepatic fibrosis, Insulin resistance, Abnormal l... |
ORPHA:79318 |