Details of Disease

General Information of Disease (ID: DIS4VBK1)

Disease Name Retinitis pigmentosa 3
Synonyms
Choroidoretinal Degeneration with retinal reflex in heterozygous Women; cone-rod Degeneration, X-linked; retinitis pigmentosa 15; retinitis pigmentosa type 3; retinitis pigmentosa caused by mutation in RPGR; RP3; RPGR retinitis pigmentosa; retinitis pigmentosa 3
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.
Disease Hierarchy
DISRRD6A: RPGR-related retinopathy
DISCGPY8: Retinitis pigmentosa
DIS4VBK1: Retinitis pigmentosa 3
Disease Identifiers
MONDO ID
MONDO_0010227
MESH ID
C564520
UMLS CUI
C1845667
OMIM ID
300029
MedGen ID
336999

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPGR TTHBDA9 Definitive X-linked [1]
RPGR TTHBDA9 Definitive Genetic Variation [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COG4 OT6U94UE Limited Biomarker [3]
RASGRF1 OTNWJ7EN Limited Genetic Variation [4]
RCC1 OT25AGMB Limited Genetic Variation [4]
SOS1 OTTCWXC3 Limited Genetic Variation [4]
RPGR OTJ7O69I Definitive X-linked [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 C2 domains as protein-protein interaction modules in the ciliary transition zone.Cell Rep. 2014 Jul 10;8(1):1-9. doi: 10.1016/j.celrep.2014.05.049. Epub 2014 Jun 26.
3 Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.Am J Hum Genet. 2000 Oct;67(4):1000-3. doi: 10.1086/303091. Epub 2000 Sep 1.
4 A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35.