Lecithin Cholesterol Acyltransferase Deficiency
"Lecithin Cholesterol Acyltransferase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D007863
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| MeSH Number(s) |
C16.320.565.398.500.330.500 C18.452.584.500.875.330.500 C18.452.648.398.500.330.500
|
| Concept/Terms |
Lecithin Cholesterol Acyltransferase Deficiency- Lecithin Cholesterol Acyltransferase Deficiency
- 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
- Fish Eye Disease
- Dyslipoproteinemic Corneal Dystrophy
- Corneal Dystrophy, Dyslipoproteinemic
|
Below are MeSH descriptors whose meaning is more general than "Lecithin Cholesterol Acyltransferase Deficiency".
Below are MeSH descriptors whose meaning is more specific than "Lecithin Cholesterol Acyltransferase Deficiency".
This graph shows the total number of publications written about "Lecithin Cholesterol Acyltransferase Deficiency" by people in this website by year, and whether "Lecithin Cholesterol Acyltransferase Deficiency" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
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Below are the most recent publications written about "Lecithin Cholesterol Acyltransferase Deficiency" by people in Profiles.
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Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband. J Lipid Res. 1998 Sep; 39(9):1870-6.