RETINITIS PIGMENTOSA 56

General Information (adopted from Orphanet):

Synonyms, Signs: RP56 MACULOPATHY, IMPG2-RELATED, INCLUDED
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613581
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 92 / 7739
2
(HPO:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0007787) Posterior subcapsular cataract 20 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(OMIM) Visual field loss 3 / 7739
7
(OMIM) Pigmentary retinopathy with typical bone spicule appearance 1 / 7739
8
(OMIM) Attenuation of retinal arterioles 3 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bandah-Rozenfeld et al. (2010) examined 12 patients from 7 families with retinal disease and mutations in the IMPG2 gene. In general, affected individuals with IMPG2 mutations displayed typical symptoms and signs of RP, including night blindness, visual field ...
Molecular genetics OMIM In an Iraqi Jewish family and a Dutch family, both segregating autosomal recessive RP mapping to chromosome 3q12, Bandah-Rozenfeld et al. (2010) analyzed the IMPG2 gene and identified homozygosity for a nonsense mutation (607056.0001) and a 1.8-kb genomic ...