Details of Disease

General Information of Disease (ID: DISV5QG1)

Disease Name Retinitis pigmentosa 47
Synonyms retinitis pigmentosa 47; RP47; SAG retinitis pigmentosa; retinitis pigmentosa type 47; retinitis pigmentosa caused by mutation in SAG
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISV5QG1: Retinitis pigmentosa 47
Disease Identifiers
MONDO ID
MONDO_0013407
UMLS CUI
C3151061
OMIM ID
613758
MedGen ID
462411

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
SAG OTDNS3ZQ Definitive Autosomal dominant [1]
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References

1 A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341.