- Concept UI
- M0012277
- 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.
- Terms
-
Lecithin Cholesterol Acyltransferase Deficiency
Preferred Term
Term UI
T815865
Date01/12/2012
LexicalTag
NON
ThesaurusID
-
Lecithin:Cholesterol Acyltransferase Deficiency
Term UI
T646313
Date07/19/2005
LexicalTag
NON
ThesaurusID
-
alpha-Lecithin-Cholesterol Acyltransferase Deficiency
Term UI
T646323
Date07/20/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
alpha-LCAT Deficiency
Term UI
T646324
Date07/20/2005
LexicalTag
ABX
ThesaurusID
-
LCATA Deficiency
Term UI
T815866
Date01/12/2012
LexicalTag
ABX
ThesaurusID
-
alpha-Lecithin:Cholesterol Acyltransferase Deficiency
Term UI
T815867
Date01/12/2012
LexicalTag
NON
ThesaurusID
-
LCAT Deficiency
Term UI
T646312
Date07/19/2005
LexicalTag
NON
ThesaurusID
-
Norum Disease
Term UI
T815868
Date01/12/2012
LexicalTag
EPO
ThesaurusID