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

Preferred term

Hyperlipoproteinemia Type II  

Type

  • mesh:Descriptor

Definition

  • A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia). Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.

Broader concept

Narrower concepts

Related concepts

Entry terms

  • Hyper-beta-Lipoproteinemia
  • Hyperbetalipoproteinemia
  • Hypercholesterolemia, Essential
  • Hypercholesterolemia, Familial
  • Hypercholesterolemic Xanthomatosis, Familial
  • Hyperlipoproteinemia Type 2
  • Hyperlipoproteinemia, Type II
  • Hyper-Low Density Lipoproteinemia
  • Hyper-Low-Density-Lipoproteinemia

Allowable Qualifier(s)

In other languages

  • Hyperlipoprotéinémie de type II

    French

  • Hyperbêtalipoprotéinémie
  • Hypercholestérolémie essentielle
  • Hypercholestérolémie familiale
  • Hyperlipoprotéinémie de type 2
  • Hyperlipoprotéinémie type 2

URI

http://data.loterre.fr/ark:/67375/JVR-FQLJ0C49-C

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