Leber congenital amaurosis 2

Preferred Label : Leber congenital amaurosis 2;

Symbol : LCA2;

CISMeF acronym : LCA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amaurosis congenita of leber II;

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 RPE65 retinoid isomerohydrolase gene (RPE65, 180069.0001);

Prefixed ID : #204100;

Details

Origin ID

204100;

UMLS CUI

C1859844;

Automatic exact mappings (from CISMeF team)
- Amaurosis congenita of Leber, type 2 [MeSH concept]
- Leber congenital amaurosis [ORDO Disease]
- retinoid isomerohydrolase RPE65 [ORDO Gene]
- retinoid isomerohydrolase RPE65 [HGNC gene]
Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 2 [DO Concept]
- amaurosis congenita of leber, type 2 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 2 [DO Concept]
Genes related to phenotype
- Retinoid isomerohydrolase rpe65 [OMIM gene]
HPO term(s)
- Absent foveal reflex [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Central visual loss [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Eye poking [HPO term]
- Fundus atrophy [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Keratoconus [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Pigmentary retinopathy [HPO term]
- Reduced visual acuity [HPO term]
- Undetectable light- and dark-adapted electroretinogram [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amaurosis congenita of Leber, type 2 [MeSH concept]
- Leber congenital amaurosis 2 [DO Concept]
- amaurosis congenita of leber, type 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients