RETINITIS PIGMENTOSA 51

General Information (adopted from Orphanet):

Synonyms, Signs: RP51
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613464
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:0007843) Attenuation of retinal blood vessels 25 / 7739
2
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
3
(HPO:0008323) Abnormal light- and dark-adapted electroretinogram 5 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Riazuddin et al. (2010) studied 4 affected and 7 unaffected members of a large consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). Medical records of the 4 affected individuals were suggestive of early-onset RP, with diagnoses made ...
Molecular genetics OMIM In a large consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP) mapping to chromosome 14q, Riazuddin et al. (2010) sequenced candidate genes and identified a homozygous splice site mutation in the TTC8 gene (608132.0005) that segregated with ...