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.
推出的年份: 2017(1978)
树号: 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 单一 ID: D007863
进入的组:
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
早前的内容:
Acyltransferases (1966-1977)
Lecithin Acyltransferase/DF (1975-1977)
Lipid Metabolism, Inborn Errors (1966-1977)
Lipoproteins (1966-1977)
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