Leber congenital amaurosis 15

Preferred Label : Leber congenital amaurosis 15;

Symbol : LCA15;

CISMeF acronym : LCA15;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa, juvenile, tulp1-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 (summary by Gu et al., 1997). Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132). For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tubby-like protein 1 gene (TULP1, 602280.0004);

Prefixed ID : #613843;

Details

Origin ID

613843;

UMLS CUI

C3151206;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- TUB like protein 1 [ORDO Gene]
- TUB like protein 1 [HGNC gene]
- retinitis pigmentosa 14 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 15 [DO Concept]
DO Cross reference
- Leber congenital amaurosis 15 [DO Concept]
Genes related to phenotype
- Tub-like protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Color vision defect [HPO term]
- Congenital nystagmus [HPO term]
- Constriction of peripheral visual field [HPO term]
- Hypermetropia [HPO term]
- Impaired smooth pursuit [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Pigmentary retinopathy [HPO term]
- Retinal degeneration [HPO term]
- Retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Slow pupillary light response [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
See also inter- (CISMeF)
- retinitis pigmentosa 14 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 15 [DO Concept]

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