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Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Hyperlipoproteinemia Type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hyperlipoproteinemia Type III
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hyperlipoproteinemia Type III
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Hyperlipidemias > Hyperlipoproteinemias > Hyperlipoproteinemia Type III

Preferred term

Hyperlipoproteinemia Type III  

Type

  • mesh:Descriptor

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.

Broader concept

Synonym(s)

  • Broad Beta Disease
  • Dysbetalipoproteinemia
  • Dysbetalipoproteinemia, Familial
  • Familial Dysbetalipoproteinemia
  • Familial Hypercholesterolemia with Hyperlipemia
  • Hyperlipoproteinemia, Broad-beta
  • Hyperlipoproteinemia, Type III

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-HV2T5BW7-R

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RDF/XML TURTLE JSON-LD Created 4/23/79, last modified 6/30/21