Details of Disease

General Information of Disease (ID: DISLBNCM)

Disease Name Retinitis pigmentosa 2
Synonyms RP2; retinitis pigmentosa type 2; retinitis pigmentosa 2; RP2 retinitis pigmentosa; retinitis pigmentosa caused by mutation in RP2
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.
Disease Hierarchy
DISSUKEW: RP2-related retinopathy
DISCGPY8: Retinitis pigmentosa
DISLBNCM: Retinitis pigmentosa 2
Disease Identifiers
MONDO ID
MONDO_0010723
MESH ID
C567523
UMLS CUI
C2681923
OMIM ID
312600
MedGen ID
394544

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPGR TTHBDA9 Strong Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARL3 OT3OGOMX Strong Biomarker [2]
KIF17 OTHASX9G Definitive Biomarker [2]
KIF7 OT1J6NAW Definitive Altered Expression [2]
RP2 OTK050I3 Definitive X-linked [3]
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References

1 Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.Eur J Ophthalmol. 2017 Mar 10;27(2):240-248. doi: 10.5301/ejo.5000879. Epub 2016 Oct 21.
2 Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.Hum Mol Genet. 2017 Jul 1;26(13):2480-2492. doi: 10.1093/hmg/ddx143.
3 Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1999 Mar;64(3):897-900. doi: 10.1086/302298.