Retinitis pigmentosa 2

Preferred Label : Retinitis pigmentosa 2;

Symbol : RP2;

CISMeF acronym : RP2;

Type : Phenotype, molecular basis known;

Description : Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the RP2 gene (RP2, 312600.0001);

Prefixed ID : #312600;

Details

Origin ID

312600;

UMLS CUI

C2681923;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 2 [DO Concept]
- retinitis pigmentosa 2 [Disease (Nov.)]
- retinitis pigmentosa 2 [MeSH concept]
- retinitis pigmentosa 2 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 2 [DO Concept]
Genes related to phenotype
- Rp2 activator of arl3 gtpase [OMIM gene]
HPO term(s)
- Bull's eye maculopathy [HPO term]
- Cataract [HPO term]
- Central scotoma [HPO term]
- Childhood onset [HPO term]
- Chorioretinal degeneration [HPO term]
- Constriction of peripheral visual field [HPO term]
- Fundus atrophy [HPO term]
- High myopia [HPO term]
- Juvenile onset [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
- Pericentral scotoma [HPO term]
- Pigmentary retinopathy [HPO term]
- Ring scotoma [HPO term]
- Rod-cone dystrophy [HPO term]
- X-linked inheritance [HPO term]
- Young adult onset [HPO term]
NCIt concept(s)
- Protein XRP2 [NCIt concept]
- RP2 Gene [NCIt concept]
- RP2 wt Allele [NCIt concept]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 2 [MeSH Supplementary Concept]
- retinitis pigmentosa 2 [MeSH concept]
- retinitis pigmentosa 2 [DO Concept]
- retinitis pigmentosa 2 [Disease (Nov.)]

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