Details of Disease | DrugMAP

General Information of Disease (ID: DISIAKQD)

Disease Name	Retinitis pigmentosa 26
Synonyms	RP 26; retinitis pigmentosa 26; RP26; CERKL retinitis pigmentosa; retinitis pigmentosa type 26; retinitis pigmentosa caused by mutation in CERKL
Definition	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DISECNRL: CERKL-related retinopathy DISIAKQD: Retinitis pigmentosa 26
Disease Identifiers	MONDO ID MONDO_0012024 MESH ID C564249 UMLS CUI C1842127 OMIM ID 608380 MedGen ID 333996

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPP4	OT7YG0AY	Strong	Genetic Variation	[1]
CERKL	OTG4YGBR	Definitive	Autosomal recessive	[2]
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References

1	Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.Gene. 2002 Sep 4;297(1-2):33-8. doi: 10.1016/s0378-1119(02)00872-7.
2	CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2709-13. doi: 10.1167/iovs.07-0865.