Details of Disease

General Information of Disease (ID: DISZAAOM)

Disease Name Retinitis pigmentosa 71
Synonyms retinitis pigmentosa 71; retinitis pigmentosa caused by mutation in IFT172; RP71; IFT172 retinitis pigmentosa; retinitis pigmentosa type 71
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISZAAOM: Retinitis pigmentosa 71
Disease Identifiers
MONDO ID
MONDO_0014618
UMLS CUI
C4225342
OMIM ID
616394
MedGen ID
897209

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
IFT172 OT12DW08 Strong Autosomal recessive [1]
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References

1 Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.