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... > 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

Preferred term

Lecithin Cholesterol Acyltransferase Deficiency  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Entry terms

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

Allowable Qualifier(s)

In other languages

URI

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

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