Details of Disease

General Information of Disease (ID: DISP0K5Y)

Disease Name Retinitis pigmentosa 60
Synonyms retinitis pigmentosa 60; retinitis pigmentosa caused by mutation in PRPF6; retinitis pigmentosa type 60; PRPF6 retinitis pigmentosa; RP60
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISP0K5Y: Retinitis pigmentosa 60
Disease Identifiers
MONDO ID
MONDO_0013516
UMLS CUI
C3151434
OMIM ID
613983
MedGen ID
462784

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
PRPF6 OT3U0ABN Strong Autosomal dominant [1]
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References

1 A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2011 May 13;88(5):643-9. doi: 10.1016/j.ajhg.2011.04.008. Epub 2011 May 5.