RETINITIS PIGMENTOSA 1

General Information (adopted from Orphanet):

Synonyms, Signs: RP1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 180100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
4
(HPO:0007688) Undetectable light- and dark-adapted electroretinogram 9 / 7739
5
(HPO:0000662) Nyctalopia 92 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Blanton et al. (1991) described a large extended American family (UCLA-RP01) segregating autosomal dominant retinitis pigmentosa with relatively late onset of night blindness, usually by the third decade of life, and with slow progression. Characteristic clinical findings included ...
Molecular genetics OMIM Pierce et al. (1999) identified a photoreceptor-specific gene (called RP1 or ORP1 for 'oxygen-regulated photoreceptor protein-1'; 603937) in the same interval on 8q11-q13 to which RP1 had been mapped by Xu et al. (1996). The expression of the ...