Details of Disease

General Information of Disease (ID: DIS9LWX6)

Disease Name Retinitis pigmentosa 18
Synonyms RP 18; retinitis pigmentosa type 18; RP18; retinitis pigmentosa caused by mutation in PRPF3; PRPF3 retinitis pigmentosa; retinitis pigmentosa 18
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS9LWX6: Retinitis pigmentosa 18
Disease Identifiers
MONDO ID
MONDO_0011075
MESH ID
C563320
UMLS CUI
C1832378
OMIM ID
601414
MedGen ID
371314

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
LSM2 OTHL77NY Limited Genetic Variation [1]
PRPF3 OTUA4OLZ Definitive Autosomal dominant [2]
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References

1 Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.Hum Mol Genet. 2008 Jan 15;17(2):225-39. doi: 10.1093/hmg/ddm300. Epub 2007 Oct 11.
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.