RETINITIS PIGMENTOSA 50

General Information (adopted from Orphanet):

Synonyms, Signs: RP50 RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613194
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0000512) Abnormal electroretinogram 19853238 IBIS 61 / 7739
3
(HPO:0012045) Retinal flecks 19853238 IBIS 6 / 7739
4
(HPO:0007663) Reduced visual acuity 19853238 IBIS 100 / 7739
5
(HPO:0007843) Attenuation of retinal blood vessels 19853238 IBIS 25 / 7739
6
(HPO:0000543) Optic disc pallor 19853238 IBIS 67 / 7739
7
(HPO:0000541) Retinal detachment 19853238 IBIS 87 / 7739
8
(HPO:0000662) Nyctalopia 19853238 IBIS 92 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In the proband of a nonconsanguineous family of European descent segregating autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 11, Davidson et al. (2009) sequenced the candidate gene BEST1 and identified heterozygosity for a missense mutation (I205T; 607854.0022) ...