Lecithin Cholesterol Acyltransferase Deficiency

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;

Détails

Origin ID

D007863;

UMLS CUI

C0023195;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Fish eye disease [PASCAL descriptor]
- Fish-eye disease [ICD-11 More detail]
- Fish-eye disease [MedDRA LLT]
- Fish-eye disease [ORDO Disease]
- Fish-eye disease [OMIM Phenotype]
- Fish-eye disease (disorder) [SNOMED CT concept]
- Lipoprotein deficiency [ICD-10 Sub-category]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
- Norum disease [DO Concept]
- Norum disease [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial LCAT deficiency [ORDO Disease]
- LCAT deficiency [ORDO Disease]
- Lecithin Acyltransferase Deficiency [NCIt concept]
- Lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- Lecithin:cholesterol acyltransferase deficiency [OMIM Phenotype]
- Phosphatidylcholine-sterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- lecithin cholesterol acetyltransferase deficiency [Disease (Nov.)]
- phosphatidylcholine-sterol acyltransferase deficiency [SNOMED Notion]
DO Cross reference
- Norum disease [DO Concept]
Has phenotype(s) (HPO)
- Corneal opacity [HPO term]
Manual NTBT mappings (CISMeF)
- Metabolic disease with corneal opacity [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Phosphatidylcholine-Sterol O-Acyltransferase [MeSH Descriptor]
Record concept(s)
- Fish-Eye Disease [MeSH concept]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH concept]
See also inter- (CISMeF)
- fish eye disorder [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial LCAT deficiency [ORDO Disease]
- Familial LCAT deficiency [MedDRA LLT]
- Familial lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- LCAT deficiency [ORDO Disease]
- Lecithin Acyltransferase Deficiency [NCIt concept]
- Lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- Lecithin-cholesterol acyltransferase deficiency [MedDRA Preferred Term]
- Lecithin:cholesterol acyltransferase deficiency [OMIM Phenotype]
- Norum disease [DO Concept]
- Phosphatidylcholine-sterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- lecithin cholesterol acetyltransferase deficiency [Disease (Nov.)]
- phosphatidylcholine-sterol acyltransferase deficiency [SNOMED Notion]

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