Details of Disease

General Information of Disease (ID: DIS34IFD)

Disease Name Retinitis pigmentosa 36
Synonyms RP 36; retinitis pigmentosa type 36; retinitis pigmentosa caused by mutation in PRCD; retinitis pigmentosa 36; RP36; PRCD retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS34IFD: Retinitis pigmentosa 36
Disease Identifiers
MONDO ID
MONDO_0012523
UMLS CUI
C1864621
OMIM ID
610599
MedGen ID
351175

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
PRCD OT64DNLW Definitive Autosomal recessive [1]
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References

1 Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. J Med Genet. 2010 Aug;47(8):533-7. doi: 10.1136/jmg.2009.073619. Epub 2010 May 27.