Leber congenital amaurosis 6

Preferred Label : Leber congenital amaurosis 6;

Symbol : LCA6;

CISMeF acronym : LCA6;

Type : Phenotype, molecular basis known;

Description : Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RPGR interacting protein 1 gene (RPGRIP1, 605446.0001);

Prefixed ID : #613826;

Details

Origin ID

613826;

UMLS CUI

C1854260;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- RPGR interacting protein 1 [ORDO Gene]
- RPGR interacting protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 6 [DO Concept]
- leber congenital amaurosis 6 [MeSH concept]
- leber congenital amaurosis 6 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 6 [DO Concept]
Genes related to phenotype
- Retinitis pigmentosa gtpase regulator-interacting protein [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- High hypermetropia [HPO term]
- Keratoconus [HPO term]
- Pendular nystagmus [HPO term]
- Photophobia [HPO term]
- Severely reduced visual acuity [HPO term]
- Undetectable electroretinogram [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 6 [DO Concept]
- leber congenital amaurosis 6 [MeSH Supplementary Concept]
- leber congenital amaurosis 6 [MeSH concept]

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