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Lecithin Cholesterol Acyltransferase Deficiency

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.

Year introduced: 2017(1978)

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Tree Number(s): C16.320.565.398.500.330.500, C18.452.584.500.875.330.500, C18.452.584.563.500.330.500, C18.452.648.398.500.330.500

MeSH Unique ID: D007863

Entry Terms:

  • Lecithin:Cholesterol Acyltransferase Deficiency
  • Acyltransferase Deficiency, Lecithin:Cholesterol
  • alpha-Lecithin-Cholesterol Acyltransferase Deficiency
  • Norum Disease
  • LCATA Deficiency
  • LCATA Deficiencies
  • alpha-Lecithin:Cholesterol Acyltransferase Deficiency
  • LCAT Deficiency
  • Deficiency, LCAT
  • alpha-LCAT Deficiency
  • Deficiency, alpha-LCAT
  • alpha LCAT Deficiency
  • Fish-Eye Disease
  • Fish Eye Disease
  • Dyslipoproteinemic Corneal Dystrophy
  • Corneal Dystrophy, Dyslipoproteinemic

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