Details of Disease

General Information of Disease (ID: DISTG03T)

Disease Name Retinitis pigmentosa 51
Synonyms TTC8 retinitis pigmentosa; retinitis pigmentosa type 51; RP51; retinitis pigmentosa 51; retinitis pigmentosa caused by mutation in TTC8
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISTG03T: Retinitis pigmentosa 51
Disease Identifiers
MONDO ID
MONDO_0013274
UMLS CUI
C3150715
OMIM ID
613464
MedGen ID
462065

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
TTC8 OTBGDZBD Definitive Autosomal recessive [1]
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References

1 A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6.