RETINITIS PIGMENTOSA 55

General Information (adopted from Orphanet):

Synonyms, Signs: RP55
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613575
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:0000510) Rod-cone dystrophy 19956407 IBIS 266 / 7739
2
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 4 Saudi Arabian sibs with nonsyndromic retinitis pigmentosa (RP) mapping to chromosome 3p12-q13, Aldahmesh et al. (2009) identified homozygosity for a missense mutation in the ARL6 gene (608845.0006). Thorough examination of the affected sibs by Safieh et ...