Leber congenital amaurosis 3

Preferred Label : Leber congenital amaurosis 3;

Symbol : LCA3;

CISMeF acronym : LCA3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa 94, variable age at onset; RP94;

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). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.;

Prefixed ID : #604232;

Détails

Origin ID

604232;

UMLS CUI

C1858677;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- Leber congenital amaurosis type 3 [MeSH concept]
- leber congenital amaurosis type 3 [MeSH Supplementary Concept]
- retinitis pigmentosa, juvenile, SPATA7-Related [MeSH concept]
- symbol withdrawn LCA3 [HGNC gene]
Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 3 [DO Concept]
- leber congenital amaurosis 3 [MeSH concept]
- leber congenital amaurosis 3 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 3 [DO Concept]
Genes related to phenotype
- Spermatogenesis-associated protein 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Visual loss [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 3 [DO Concept]
- leber congenital amaurosis 3 [MeSH Supplementary Concept]
- leber congenital amaurosis 3 [MeSH concept]

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

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