Lactate Dehydrogenase B Deficiency |
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Reduced lactate dehydrogenase B level |
OMIM:614128 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
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Glyoxalase deficiency |
OMIM:614033 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
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Abnormal enzyme/coenzyme activity |
OMIM:125460 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Acatalasemia |
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Reduced catalase level |
OMIM:614097 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Elevated hepatic transaminase, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Fish-Eye Disease |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Giant cell hepatitis, Hyperbilirubinemia, Hepatic failure, Steatorrhea, Elevated hepatic transami... |
OMIM:607765 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Elevated circulating aspartate aminotransferase concentration, Elevated gamma-glutamyltransferase... |
OMIM:619868 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Elevated circulating methylsuc... |
OMIM:618156 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein, Elevated cir... |
OMIM:619662 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Elevated circ... |
ORPHA:96180 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbuminemia, Steatorrhea |
OMIM:212065 |
Abetalipoproteinemia |
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Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... |
ORPHA:14 |
Alg12-Cdg |
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Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase, Hypocholesterolemia, Hypoalbumi... |
ORPHA:79324 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Friedreich Ataxia |
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Decreased pyruvate carboxylase activity |
OMIM:229300 |
Methylmalonic Aciduria, Cblb Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Methylmalonic Aciduria, Cbla Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Hyperlipoproteinemia, Type I |
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Hyperlipidemia, Increased circulating chylomicron concentration, Lactescent serum, Hypercholester... |
OMIM:238600 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:277400 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
Friedreich Ataxia 2 |
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Decreased pyruvate carboxylase activity |
OMIM:601992 |
Friedreich Ataxia And Congenital Glaucoma |
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Decreased pyruvate carboxylase activity |
OMIM:229310 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
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Decreased pyruvate carboxylase activity |
OMIM:302900 |
Acatalasemia |
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Reduced catalase level |
ORPHA:926 |