Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypobetalipoproteinemias > Abetalipoproteinemia

Terme préférentiel

Abetalipoproteinemia  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.

Concept générique

Concepts associés

Synonyme(s)

  • Acanthocytosis
  • Bassen-Kornzweig Disease
  • Bassen-Kornzweig Syndrome
  • Betalipoprotein Deficiency Disease
  • Microsomal Triglyceride Transfer Protein Deficiency
  • Microsomal Triglyceride Transfer Protein Deficiency Disease

Qualificatif(s) autorisé(s)

Traductions

  • Abêtalipoprotéinémie

    français

  • Acanthocytose
  • Déficit en MTP
  • Déficit en protéine microsomale de transfert des triglycérides
  • Déficit en protéine microsomique de transfert de triglycérides
  • Déficit en transporteur microsomal des triglycérides
  • Déficit en transporteur microsomique des triglycérides
  • Maladie de Bassen-Kornzweig
  • Maladie du déficit en protéine microsomale de transfert des triglycérides
  • Syndrome de Bassen-Kornzweig

URI

http://data.loterre.fr/ark:/67375/JVR-ZNLS0C8W-K

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2021