Details of Disease

General Information of Disease (ID: DISLG2GD)

Disease Name Retinitis pigmentosa 31
Synonyms RP 31; RP31; retinitis pigmentosa 31; retinitis pigmentosa type 31; TOPORS retinitis pigmentosa; retinitis pigmentosa caused by mutation in TOPORS
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISSPH9U: TOPORS-related retinopathy
DISLG2GD: Retinitis pigmentosa 31
Disease Identifiers
MONDO ID
MONDO_0012367
MESH ID
C563685
UMLS CUI
C1835923
OMIM ID
609923
MedGen ID
372159

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
TOPORS OT1ERFFQ Definitive Autosomal dominant [1]
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References

1 Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26.