Details of Disease

General Information of Disease (ID: DISKYC2N)

Disease Name Retinitis pigmentosa 28
Synonyms RP 28; RP28; retinitis pigmentosa caused by mutation in FAM161A; retinitis pigmentosa 28; retinitis pigmentosa type 28; FAM161A retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISKYC2N: Retinitis pigmentosa 28
Disease Identifiers
MONDO ID
MONDO_0011630
UMLS CUI
C1419614
OMIM ID
606068
MedGen ID
244030

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
FAM161A OTF5ZRYJ Definitive Autosomal recessive [1]
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References

1 Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12.