Details of Disease

General Information of Disease (ID: DIS4ZDFZ)

Disease Name Retinitis pigmentosa 4
Synonyms
retinitis pigmentosa, rhodopsin-related; RP 4; RP4; retinitis pigmentosa 4; retinitis pigmentosa 4, autosomal dominant or recessive; RHO retinitis pigmentosa; retinitis pigmentosa caused by mutation in RHO; retinitis pigmentosa type 4
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DIS4ZDFZ: Retinitis pigmentosa 4
Disease Identifiers
MONDO ID
MONDO_0013395
MESH ID
C566706
UMLS CUI
C3151001
OMIM ID
613731
MedGen ID
462351

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
RHO TTH0KSX Definitive Semidominant [1]
RHO TTH0KSX Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RHO OT33SU2R Definitive Semidominant [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 Ligand channel in pharmacologically stabilized rhodopsin.Proc Natl Acad Sci U S A. 2018 Apr 3;115(14):3640-3645. doi: 10.1073/pnas.1718084115. Epub 2018 Mar 19.