Skip to main

Medical Subject Headings (thesaurus)

Search from vocabulary

mapear
anotar
descargar

Concept information

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

Término preferido

Hyperlipoproteinemia Type II  

Notice: Undefined index: in /var/www/html/model/Concept.php on line 545

Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos específicos

Conceptos relacionados

Etiquetas alternativas

  • 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

En otras lenguas

  • Hyperlipoprotéinémie de type II

    francés

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

URI

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

Descargue este concepto:

RDF/XML TURTLE JSON-LD Creado 23/4/79, última modificación 30/6/21