RETINITIS PIGMENTOSA 4

General Information (adopted from Orphanet):

Synonyms, Signs: RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
RP4
Number of Symptoms 13
OrphanetNr:
OMIM Id: 613731
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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 92 / 7739
2
(HPO:0000512) Abnormal electroretinogram 61 / 7739
3
(HPO:0001123) Visual field defect 30 / 7739
4
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
5
(HPO:0000518) Cataract 454 / 7739
6
(HPO:0000580) Pigmentary retinopathy 49 / 7739
7
(HPO:0000510) Rod-cone dystrophy 266 / 7739
8
(OMIM) Abnormal electroretinograms in heterozygotes 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Early onset night blindness and abnormal fundus (e.g. 180380.0013) 1 / 7739
11
(OMIM) Superior hemisphere field impairment (e.g. 180380.0004 and 180380.0025) 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Inferior and inferonasal retinal pigmentation (e.g. 180380.0004 and 180380.0025) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Genotype-Phenotype Correlations OMIM Oh et al. (2000) reported the clinical characteristics of a family with autosomal dominant retinitis pigmentosa caused by a pro23-to-ala mutation (P23A; 180380.0043) in the rhodopsin gene, and compared this phenotype with that associated with the more common ...
Molecular genetics OMIM In patients with autosomal dominant retinitis pigmentosa mapping to 3q, Dryja et al. (1990) identified a heterozygous pro23-to-his mutation (P23H; 180380.0001) in the RHO gene. The proline residue at position 23 in the NH2 portion of the rhodopsin ...