RETINITIS PIGMENTOSA 45

General Information (adopted from Orphanet):

Synonyms, Signs: RP45
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613767
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000608) Macular degeneration rare [HPO:skoehler] 36 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0007994) Peripheral visual field loss 13 / 7739
4
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
5
(HPO:0000662) Nyctalopia 92 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bareil et al. (2001) identified a consanguineous French family in which typical and severe retinitis pigmentosa segregated as an autosomal recessive trait in 3 affected individuals. The proband had night blindness since early childhood. Later, she experienced loss ...
Molecular genetics OMIM In affected individuals from a consanguineous French family with retinitis pigmentosa, Bareil et al. (2001) found homozygosity for a missense mutation in exon 30 of the CNGB1 gene (G993V; 600724.0001). The G993V mutation occurs in one of the ...