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 > Hypoalphalipoproteinemias > Lecithin Cholesterol Acyltransferase Deficiency
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypoalphalipoproteinemias > Lecithin Cholesterol Acyltransferase Deficiency
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypoalphalipoproteinemias > Lecithin Cholesterol Acyltransferase Deficiency
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypoalphalipoproteinemias > Lecithin Cholesterol Acyltransferase Deficiency

Terme préférentiel

Lecithin Cholesterol Acyltransferase Deficiency  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.

Concept générique

Synonyme(s)

  • alpha-LCAT Deficiency
  • alpha-Lecithin-Cholesterol Acyltransferase Deficiency
  • alpha-Lecithin:Cholesterol Acyltransferase Deficiency
  • LCATA Deficiency
  • LCAT Deficiency
  • Lecithin:Cholesterol Acyltransferase Deficiency
  • Norum Disease

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-LRZ0XT65-F

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 29/04/1977, dernière modification le 30/06/2021