Fish-eye disease

Preferred Label : Fish-eye disease;

Symbol : FED;

CISMeF acronym : FED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyslipoproteinemic corneal dystrophy; Lcata deficiency; Alpha-lcat deficiency; Alpha-lecithin:cholesterol acyltransferase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in lecithin:cholesterol acyltransferase gene (LCAT, 606967.0005).;

Laboratory abnormalities : Increased plasma triglycerides; Increased plasma VLDL, LDL; Low plasma HDL; Hypoalphalipoproteinemia; Deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity;

Prefixed ID : #136120;

Détails

Origin ID

136120;

UMLS CUI

C0342895;

Currated CISMeF NLP mapping
- Fish-Eye Disease [MeSH concept]
- Fish-eye disease [ICD-11 More detail]
- Fish-eye disease [MedDRA LLT]
- Fish-eye disease [ORDO Disease]
- Fish-eye disease (disorder) [SNOMED CT concept]
- fish eye disorder [Disease (Nov.)]
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]
- Hypertriglyceridemia [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Increased VLDL cholesterol concentration [HPO term]
- Opacification of the corneal stroma [HPO term]
ORDO concept(s)
- Fish-eye disease [ORDO Disease]
- LCAT deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fish-Eye Disease [MeSH concept]
- Fish-eye disease [ORDO Disease]
- Fish-eye disease [MedDRA LLT]
- Fish-eye disease (disorder) [SNOMED CT concept]
- fish eye disorder [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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