RETINITIS PIGMENTOSA 48

General Information (adopted from Orphanet):

Synonyms, Signs: RP48
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613827
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:0000505) Visual impairment 297 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 7 members of 3 families in which mutation in the GUCA1B gene led to retinitis pigmentosa (RP48), Sato et al. (2005) found that the mutation was associated with RP with or without macular involvement in 5 members, ...
Molecular genetics OMIM Sato et al. (2005) screened 96 unrelated Japanese patients with retinitis pigmentosa for mutations in the GUCA1B gene and identified heterozygosity for a G157R mutation (602275.0001) in 3.