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