Preferred Label : Lecithin Cholesterol Acyltransferase Deficiency;
MeSH definition : An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL
ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and
subsequent removal from peripheral tissues to the liver. This defect results in low
HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading
to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.; 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.;
MeSH synonym : lecithin:cholesterol acyltransferase deficiency; lcat deficiency; alpha-Lecithin-Cholesterol acyltransferase deficiency; alpha-Lecithin:Cholesterol acyltransferase deficiency; acyltransferase deficiency, Lecithin:Cholesterol; deficiency, LCAT; LCATA deficiency; LCATA deficiencies; alpha-LCAT deficiency; deficiency, alpha-LCAT; alpha LCAT deficiency; norum disease;
CISMeF synonym : lecithin acyltransferase deficiency; acyltransferase deficiencies, alpha-Lecithin-Cholesterol; acyltransferase deficiencies, alpha-Lecithin:Cholesterol; acyltransferase deficiency, alpha-Lecithin-Cholesterol; acyltransferase deficiency, alpha-Lecithin:Cholesterol; alpha Lecithin:Cholesterol acyltransferase deficiency; alpha lecithin cholesterol acyltransferase deficiency; alpha-Lecithin:Cholesterol acyltransferase deficiencies; deficiencies, LCATA; deficiencies, alpha-LCAT; deficiencies, alpha-Lecithin:Cholesterol acyltransferase; deficiency, Lecithin:Cholesterol acyltransferase; deficiency, alpha-Lecithin-Cholesterol acyltransferase; deficiency, alpha-Lecithin:Cholesterol acyltransferase; deficiency, lecithin acyltransferase; disease, Fish-Eye;
MeSH hyponym : Fish-Eye Disease; Fish Eye Disease; Dyslipoproteinemic Corneal Dystrophy; Corneal Dystrophy, Dyslipoproteinemic;
Wikipedia link : https://en.wikipedia.org/wiki/Norum disease;
Origin ID : D007863;
UMLS CUI : C0023195;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Has phenotype(s) (HPO)
Manual NTBT mappings (CISMeF)
MeSH Descriptor(s) used for indexing
Record concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL
ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and
subsequent removal from peripheral tissues to the liver. This defect results in low
HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading
to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.
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.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=650
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Lecithin Cholesterol Acyltransferase Deficiency
rare diseases
scientific and technical information
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