Details of Disease

General Information of Disease (ID: DISSNFLI)

Disease Name Retinitis pigmentosa 50
Synonyms retinitis pigmentosa, concentric; retinitis pigmentosa type 50; RP50; retinitis pigmentosa-50; retinitis pigmentosa 50; BEST1 retinitis pigmentosa; retinitis pigmentosa caused by mutation in BEST1
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISSNFLI: Retinitis pigmentosa 50
Disease Identifiers
MONDO ID
MONDO_0013175
MESH ID
C567712
UMLS CUI
C2750789
OMIM ID
613194
MedGen ID
442563

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BEST1 OTWHE1ZC Strong Autosomal dominant [1]
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References

1 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22.