Details of Disease

General Information of Disease (ID: DIS2XQC7)

Disease Name Retinitis pigmentosa 56
Synonyms maculopathy, Impg2-related; RP56; retinitis pigmentosa 56; retinitis pigmentosa type 56; IMPG2 retinitis pigmentosa; retinitis pigmentosa caused by mutation in IMPG2
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.
Disease Hierarchy
DISA1SU0: IMPG2-related recessive retinopathy
DISCGPY8: Retinitis pigmentosa
DIS2XQC7: Retinitis pigmentosa 56
Disease Identifiers
MONDO ID
MONDO_0013314
UMLS CUI
C3150819
OMIM ID
613581
MedGen ID
462169

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
IMPG2 OTFPSJ0T Definitive Autosomal recessive [1]
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References

1 IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. Invest Ophthalmol Vis Sci. 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129.