RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615434
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:0007663) Reduced visual acuity 100 / 7739
2
(HPO:0000543) Optic disc pallor 67 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000662) Nyctalopia 92 / 7739
5
(HPO:0001696) Situs inversus totalis rare [HPO:skoehler] 44 / 7739
6
(OMIM) Macular atrophy, marked 1 / 7739
7
(OMIM) Severely reduced or undetectable photopic and scotopic responses on electroretinography 1 / 7739
8
(OMIM) Impaired visual fields 1 / 7739
9
(OMIM) Bone-spicule-like pigmentation in midperiphery, mild-to-moderate 1 / 7739
10
(OMIM) Attenuated retinal blood vessels 2 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Epiretinal membranes, with wrinkling of retina 1 / 7739
13
(OMIM) Posterior subcapsular cataracts, mild (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Davidson et al. (2013) studied a consanguineous family of Arab Muslim origin in which 3 sibs were diagnosed with retinitis pigmentosa (RP) in their 20s, after complaints of night vision and visual field impairment. At 36 years of ...
Molecular genetics OMIM In 2 sibs with retinitis pigmentosa and full thoracic and abdominal situs inversus from a consanguineous family of Arab Muslim origin, Davidson et al. (2013) performed high-density genomewide SNP microarray analysis followed by whole-exome sequencing, and identified a ...