Details of Disease

General Information of Disease (ID: DIS30DJI)

Disease Name Retinitis pigmentosa 10
Synonyms RP10; IMPDH1 retinitis pigmentosa; retinitis pigmentosa caused by mutation in IMPDH1; retinitis pigmentosa 10; retinitis pigmentosa type 10
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS30DJI: Retinitis pigmentosa 10
Disease Identifiers
MONDO ID
MONDO_0008379
MESH ID
C566715
UMLS CUI
C1867299
OMIM ID
180105
MedGen ID
357247

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IMPDH1 TT3GRLK Limited Biomarker [1]
IMPDH1 TT3GRLK Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IMPDH1 OT6QGM5Y Definitive Autosomal dominant [2]
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References

1 Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).Hum Mol Genet. 2008 Jul 15;17(14):2084-100. doi: 10.1093/hmg/ddn107. Epub 2008 Apr 1.
2 Phenotypic variability associated with the D226N allele of IMPDH1. Ophthalmology. 2015 Feb;122(2):429-31. doi: 10.1016/j.ophtha.2014.07.057. Epub 2014 Nov 13.