RETINITIS PIGMENTOSA 25

General Information (adopted from Orphanet):

Synonyms, Signs: RP25
Number of Symptoms 7
OrphanetNr:
OMIM Id: 602772
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:0000662) Nyctalopia 18976725 IBIS 92 / 7739
2
(HPO:0000510) Rod-cone dystrophy 18976725 IBIS 266 / 7739
3
(HPO:0007843) Attenuation of retinal blood vessels 18976725 IBIS 25 / 7739
4
(HPO:0001133) Constriction of peripheral visual field 18976725 IBIS 33 / 7739
5
(HPO:0000550) Undetectable electroretinogram 18976725 IBIS 25 / 7739
6
(HPO:0007737) Bone spicule pigmentation of the retina 18976725 IBIS 26 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Collin et al. (2008) examined 6 affected individuals from 3 families with retinitis pigmentosa, all but 1 of whom displayed characteristic RP abnormalities including night blindness as the initial symptom, retinal bone-spicule pigmentation and attenuated retinal vessels, constriction ...
Molecular genetics OMIM By direct sequence analysis in 7 Spanish autosomal recessive RP families, Abd El-Aziz et al. (2008) excluded 60 of the approximately 110 genes within the RP25 interval. To investigate whether copy number variation (CNV) exists within RP25, comparative ...