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Disease Hyperlipoproteinemia Type III

Name Hyperlipoproteinemia Type III
Synonyms APOLIPOPROTEIN E, DEFICIENCY OR DEFECT OF | Broad Beta Disease | Broad-beta Hyperlipoproteinemia | BROAD-BETALIPOPROTEINEMIA | Dysbetalipoproteinemia | DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d | Dysbetalipoproteinemia, Familial | Familial Dysbetalipoproteinemia | FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA | Familial Hypercholesterolemia with Hyperlipemia | FLOATING-BETALIPOPROTEINEMIA CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED | HYPERLIPEMIA WITH FAMILIAL HYPERCHOLESTEROLEMIC XANTHOMATOSIS | Hyperlipoproteinemia, Broad beta | Hyperlipoproteinemia, Broad-beta | Hyperlipoproteinemias, Type III | Hyperlipoproteinemia, Type III | LDLCQ5, INCLUDED | LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5, INCLUDED | Type III Hyperlipoproteinemia | Type III Hyperlipoproteinemias
Definition An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D006952
OMIM® ID 617347
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hyperlipoproteinemia Type III Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Dyslipidemias Has associated chemicals Has associated genes Has associated exposure references Hyperlipidemias Has associated chemicals Has associated genes Hyperlipoproteinemias Has associated chemicals Has associated genes Hyperlipoproteinemia Type III Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Hyperlipoproteinemia Type III Has associated chemicals Has associated genes

Top ↑ Descendants

None.