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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > 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
... > 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 > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypoalphalipoproteinemias > Lecithin Cholesterol Acyltransferase Deficiency

Preferred term

Lecithin Cholesterol Acyltransferase Deficiency  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Scope note

  • 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.

History note

  • 2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979

In other languages

URI

http://www.yso.fi/onto/mesh/D007863

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