Leber congenital amaurosis 14

Preferred Label : Leber congenital amaurosis 14;

Symbol : LCA14;

CISMeF acronym : LCA14;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinal dystrophy, early-onset severe, lrat-related; Retinitis pigmentosa, juvenile, lrat-related;

Description : Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lecithin retinol acyltransferase gene (LRAT, 604863.0001);

Prefixed ID : #613341;

Détails

Origin ID

613341;

UMLS CUI

C2750063;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- lecithin retinol acyltransferase [ORDO Gene]
- lecithin retinol acyltransferase [HGNC gene]
- retinal dystrophy, Early-Onset severe, Lrat-Related [MeSH concept]
- retinitis pigmentosa, juvenile, Lrat-Related [MeSH concept]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 14 [DO Concept]
- leber congenital amaurosis 14 [MeSH concept]
- leber congenital amaurosis 14 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 14 [DO Concept]
Genes related to phenotype
- Lecithin retinol acyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital blindness [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Decreased or absent electroretinogram [HPO term]
- Falls [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Pallor [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Retinal dystrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Undetectable electroretinogram [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 14 [DO Concept]
- leber congenital amaurosis 14 [MeSH Supplementary Concept]
- leber congenital amaurosis 14 [MeSH concept]

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

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