Details of Disease

General Information of Disease (ID: DIS1CD8L)

Disease Name Late-adult onset retinitis pigmentosa
Synonyms retinitis pigmentosa, 'Senile'; retinitis pigmentosa, late-ADULT onset; senile retinitis pigmentosa
Definition A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS1CD8L: Late-adult onset retinitis pigmentosa
Disease Identifiers
MONDO ID
MONDO_0009984
MESH ID
C564840
UMLS CUI
C1849400
OMIM ID
268025
MedGen ID
340316

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLA2G5 OTQRSKCZ Limited Autosomal recessive [1]
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References

1 Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. Sci Rep. 2015 Aug 26;5:13187. doi: 10.1038/srep13187.