Details of Disease

General Information of Disease (ID: DIS4N65W)

Disease Name Retinitis pigmentosa 54
Synonyms PCARE retinitis pigmentosa; retinitis pigmentosa type 54; RP54; retinitis pigmentosa caused by mutation in PCARE; retinitis pigmentosa 54
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISBOJH1: PCARE-related retinopathy
DIS4N65W: Retinitis pigmentosa 54
Disease Identifiers
MONDO ID
MONDO_0013263
UMLS CUI
C3150691
OMIM ID
613428
MedGen ID
462041

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
PCARE OTUSRSB5 Definitive Autosomal recessive [1]
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References

1 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15.