RETINITIS PIGMENTOSA 19

General Information (adopted from Orphanet):

Synonyms, Signs: RP19
Number of Symptoms 10
OrphanetNr:
OMIM Id: 601718
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000543) Optic disc pallor 67 / 7739
2
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000662) Nyctalopia 92 / 7739
5
(HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
6
(HPO:0000512) Abnormal electroretinogram 61 / 7739
7
(HPO:0000505) Visual impairment 297 / 7739
8
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
9
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the population of Spain, 39% of the retinitis pigmentosa pedigrees show an autosomal recessive pattern of inheritance (Ayuso et al., 1995). Martinez-Mir et al. (1997) described a consanguineous Spanish family in which 6 of 7 sibs were ...
Molecular genetics OMIM Since RP19 maps to the same region of the short arm of chromosome 1 as the Stargardt disease locus, Martinez-Mir et al. (1998) sought mutations in the ABCR gene, which is mutant in Stargardt disease. They identified a ...