Details of Disease

General Information of Disease (ID: DISVKPIL)

Disease Name Retinitis pigmentosa 66
Synonyms RP66; retinitis pigmentosa 66; retinitis pigmentosa caused by mutation in RBP3; RBP3 retinitis pigmentosa; retinitis pigmentosa type 66
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISVKPIL: Retinitis pigmentosa 66
Disease Identifiers
MONDO ID
MONDO_0014093
UMLS CUI
C3715216
OMIM ID
615233
MedGen ID
811638

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
RBP3 OTIWM4GT Strong Autosomal recessive [1]
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References

1 A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1864-72. doi: 10.1167/iovs.08-2497. Epub 2008 Dec 13.