Details of Disease

General Information of Disease (ID: DISXKU6Y)

Disease Name Retinitis pigmentosa 13
Synonyms RP 13; retinitis pigmentosa type 13; PRPF8 retinitis pigmentosa; RP13; retinitis pigmentosa caused by mutation in PRPF8; retinitis pigmentosa 13
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISN4HNP: PRPF8-related retinopathy
DISXKU6Y: Retinitis pigmentosa 13
Disease Identifiers
MONDO ID
MONDO_0010806
MESH ID
C564008
UMLS CUI
C1838702
OMIM ID
600059
MedGen ID
325486

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRPF3 OTUA4OLZ Limited Biomarker [1]
PRPF8 OTU39JZI Definitive Autosomal dominant [2]
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References

1 Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa.Mol Vis. 2008 Jan 25;14:125-35.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.