Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction |
OMIM:108725 |
Combined Low Ldl And Fibrinogen |
|
Elevated circulating aspartate aminotransferase concentration, Decreased LDL cholesterol concentr... |
OMIM:620364 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Hypertension, Myocardial infarction |
OMIM:608320 |
Hypobetalipoproteinemia, Familial, 2 |
|
Hypotriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:605019 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Hypervalinemia And Hyperleucine-Isoleucinemia |
|
Hypervalinemia, Hyperisoleucinemia, Elevated circulating alanine aminotransferase concentration, ... |
OMIM:618850 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris |
OMIM:614025 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Hypoalphalipoproteinemia, Primary, 2, Intermediate |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration |
OMIM:619836 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Apolipoprotein C-Iii Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Decreased LDL cholesterol concentra... |
OMIM:614028 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... |
OMIM:616516 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia |
ORPHA:71529 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations |
ORPHA:488650 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia |
OMIM:613877 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaund... |
OMIM:214900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:280356 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:619658 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hypertriglyceridemia |
OMIM:608600 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... |
OMIM:616278 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... |
OMIM:614972 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... |
ORPHA:86816 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:235555 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hypertension, Hyperuricemia |
ORPHA:77296 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia |
OMIM:604367 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... |
ORPHA:412 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy... |
ORPHA:528 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:363400 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... |
OMIM:144650 |
Glycogen Storage Disease Iii |
|
Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:617308 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Steatorrhea |
OMIM:618752 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Restrictive cardiomyopathy |
OMIM:619313 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Telangiectasia of the skin |
OMIM:615381 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hyperammonemia, Elevated circulating sub... |
OMIM:615160 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea... |
OMIM:615980 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:66628 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:179494 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Hypertension, Hyperuricemia, Hypertrophic cardiom... |
ORPHA:79083 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy |
OMIM:618348 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Hypertriglyceridemia |
ORPHA:2348 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ... |
ORPHA:31825 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo... |
ORPHA:90041 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... |
ORPHA:363618 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Pulmonary ... |
ORPHA:444490 |
Acquired Generalized Lipodystrophy |
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Hypertriglyceridemia, Abnormal cardiovascular system physiology, Cardiomyopathy, Hypertension, Ab... |
ORPHA:79086 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Hyperlipidemia |
ORPHA:2089 |
Aapoaiv Amyloidosis |
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Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia, Transient hyperlipidemia |
ORPHA:156 |
Smith-Magenis Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hypertrophic cardiomyopathy, Hyperlipidemia |
ORPHA:369 |
Alstrom Syndrome |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Dilated ... |
OMIM:203800 |
Werner Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... |
ORPHA:14 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension |
OMIM:151660 |
Combined Deficiency Of Factor V And Factor Viii |
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Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... |
ORPHA:35909 |
Infantile Liver Failure Syndrome 2 |
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Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Hyperammonemia |
OMIM:616483 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, C... |
ORPHA:264580 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Steatorrhea, Hypo... |
OMIM:212065 |
Secondary Intestinal Lymphangiectasia |
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Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Xp21 Deletion Syndrome |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Seckel Syndrome 10 |
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Hypertension, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure |
OMIM:617253 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Tyrosinemia, Type Iii |
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Hypertyrosinemia, Elevated hepatic transaminase |
OMIM:276710 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Hypoalphalipoproteinemia, Primary, 2 |
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Decreased HDL cholesterol concentration |
OMIM:618463 |
Neuhauser Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Cholestasis-Lymphedema Syndrome |
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Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertension |
ORPHA:1414 |
Neutral Lipid Storage Disease With Ichthyosis |
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Cardiomyopathy, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Fanconi-Bickel Syndrome |
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Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... |
ORPHA:280365 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia |
ORPHA:2479 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad... |
ORPHA:90674 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hypertriglyceridemia |
OMIM:617591 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hypovolemia, Xanthelasma, Pulmonary arterial hy... |
ORPHA:275761 |
Alg12-Cdg |
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Hyponatremia, Abnormal circulating enzyme concentration or activity, Elevated hepatic transaminas... |
ORPHA:79324 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Decreased circulating plasmalogen concentration |
OMIM:222765 |
Infantile Liver Failure Syndrome 3 |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyperammonemia, Cho... |
OMIM:618641 |
Griscelli Syndrome Type 2 |
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Hyperlipidemia |
ORPHA:79477 |
Microtriplication 11Q24.1 |
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Hyperlipidemia |
ORPHA:289522 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... |
ORPHA:30391 |
Lysinuric Protein Intolerance |
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Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... |
ORPHA:391665 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
H Syndrome |
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Hypertriglyceridemia, Abnormal cardiovascular system physiology, Facial telangiectasia |
ORPHA:168569 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Xanthelasma, Hypertension, Pulmonary venous hype... |
ORPHA:79259 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Immunodeficiency 47 |
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Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration |
OMIM:300972 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Neutral Lipid Storage Myopathy |
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Cardiomyopathy, Hypertriglyceridemia, Congestive heart failure, Abnormal circulating creatine kin... |
ORPHA:98908 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:235400 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Chédiak-Higashi Syndrome |
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Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo... |
ORPHA:167 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hypertriglyceridemia |
ORPHA:536532 |
Immunodeficiency 87 And Autoimmunity |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat... |
OMIM:619573 |
Familial Multiple Lipomatosis |
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Hyperlipidemia |
ORPHA:199276 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Angina pectoris, Elevated circulating creatine kinase concentration, Hyperlipidemia, Low-output c... |
ORPHA:565612 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Apolipoprotein A-I Deficiency |
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Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma |
ORPHA:425 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Hypertriglyceridemia |
OMIM:619418 |
19P13.12 Microdeletion Syndrome |
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Aortic regurgitation, Hyperlipidemia, Mitral regurgitation, Arrhythmia |
ORPHA:254346 |
Smith-Lemli-Opitz Syndrome |
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Hypertension, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... |
OMIM:270400 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Hyp... |
OMIM:606721 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Cardiomyopathy, Hypertriglyceridemia |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hypertrophic cardiomyopathy, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:269700 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Tricuspid regurgitation, Mitral regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper... |
ORPHA:189427 |
Glycogen Storage Disease Ia |
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Xanthelasma, Hyperlipidemia, Hypertension, Hyperuricemia |
OMIM:232200 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism |
ORPHA:567546 |
Schimke Immuno-Osseous Dysplasia |
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Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Hypertension, Ischemic strok... |
ORPHA:1830 |
Steinert Myotonic Dystrophy |
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Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Glycogen Storage Disease Ic |
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Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Pulmonary arterial h... |
OMIM:232240 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Fabry Disease |
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Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Glycogen Storage Disease Ib |
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Xanthelasma, Hyperlipidemia, Hypertension, Hyperuricemia |
OMIM:232220 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia |
OMIM:608612 |
Atypical Werner Syndrome |
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Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Hypertension, Aortic ... |
ORPHA:79474 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperlipidemia |
ORPHA:90153 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia |
OMIM:264090 |
Aromatase Deficiency |
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Hyperlipidemia |
ORPHA:91 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Pulmonic stenosis |
ORPHA:3455 |
Woodhouse-Sakati Syndrome |
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Abnormal T-wave, Hyperlipidemia |
ORPHA:3464 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Alström Syndrome |
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Hypertriglyceridemia, Portal hypertension, Congestive heart failure, Hyperlipidemia, Dilated card... |
ORPHA:64 |
Amyloidosis, Familial Visceral |
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Hepatomegaly, Cholestasis |
OMIM:105200 |