Lecithin:cholesterol acyltransferase deficiency

Preferred Label : Lecithin:cholesterol acyltransferase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lcat deficiency; Norum disease;

Description : Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the lecithin:cholesterol acyltransferase gene (LCAT, 606967.0001).;

Laboratory abnormalities : Proteinuria; Decreased plasma esterified cholesterol; Decreased plasma HDL ( 1/10 of normal levels); Decreased apoA-I and apoA-II; Increased plasma free cholesterol; Increased plasma triglycerides; Increased plasma phospholipids; Decreased lecithin:cholesterol acyltransferase mass and activity; Foam cells in bone marrow and renal glomeruli;

Prefixed ID : #245900;

Details

Origin ID

245900;

UMLS CUI

C0023195;

Automatic exact mappings (from CISMeF team)
- Norum disease [DO Concept]
- Norum disease [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial LCAT deficiency [MedDRA LLT]
- Familial LCAT deficiency [ORDO Disease]
- LCAT deficiency [ORDO Disease]
- Lecithin Acyltransferase Deficiency [NCIt concept]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH Descriptor]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH concept]
- Lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- 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]
Genes related to phenotype
- Lecithin:cholesterol acyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal opacity [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Foam cells [HPO term]
- Hemolytic anemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Normochromic anemia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Proteinuria [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Familial LCAT deficiency [ORDO Disease]
- LCAT deficiency [ORDO Disease]
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 [MeSH Descriptor]
- Lecithin Cholesterol Acyltransferase Deficiency [MeSH concept]
- Lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- Lecithin-cholesterol acyltransferase deficiency [MedDRA Preferred Term]
- Norum disease [DO Concept]
- Phosphatidylcholine-sterol acyltransferase deficiency (disorder) [SNOMED CT concept]
- lecithin cholesterol acetyltransferase deficiency [Disease (Nov.)]
- phosphatidylcholine-sterol acyltransferase deficiency [SNOMED Notion]
Validated automatic mappings to BTNT
- Familial lecithin cholesterol acyltransferase deficiency (disorder) [SNOMED CT concept]

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