Details of Disease

General Information of Disease (ID: DISGXGPU)

Disease Name Retinitis pigmentosa 57
Synonyms PDE6G retinitis pigmentosa; retinitis pigmentosa caused by mutation in PDE6G; RP57; retinitis pigmentosa 57; retinitis pigmentosa type 57
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISGXGPU: Retinitis pigmentosa 57
Disease Identifiers
MONDO ID
MONDO_0013315
UMLS CUI
C3150821
OMIM ID
613582
MedGen ID
462171

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
PDE6G OTWA8TIQ Definitive Autosomal recessive [1]
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References

1 Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22.