Details of Disease

General Information of Disease (ID: DIS8J8VI)

Disease Name Retinitis pigmentosa 20
Synonyms RP 20; RP20; retinitis pigmentosa caused by mutation in RPE65; retinitis pigmentosa type 20; RPE65 retinitis pigmentosa; retinitis pigmentosa 20
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.
Disease Hierarchy
DISY89Y2: RPE65-related recessive retinopathy
DISCGPY8: Retinitis pigmentosa
DIS8J8VI: Retinitis pigmentosa 20
Disease Identifiers
MONDO ID
MONDO_0013425
MESH ID
C566718
UMLS CUI
C3151086
OMIM ID
613794
MedGen ID
462436

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
RPE65 TTBOH16 moderate Genetic Variation [1]
RPE65 TTBOH16 Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPE65 OTHS41XM Strong Autosomal recessive [2]
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References

1 Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018.
2 Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. J Biol Chem. 2006 Aug 4;281(31):21820-21826. doi: 10.1074/jbc.M603725200. Epub 2006 Jun 5.