Details of Disease

General Information of Disease (ID: DIS7OJKJ)

Disease Name Usher syndrome type 2A
Synonyms
Usher syndrome, type 2A; US2; USHER syndrome, type IIA; Usher syndrome type IIA; USH2A; USH2A Usher syndrome; retinal disease in usher syndrome type IIA, modifier of; Usher syndrome type 2A; Usher syndrome caused by mutation in USH2A
Definition Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.
Disease Hierarchy
DIS9YIS7: Usher syndrome
DIS3LO3C: Usher syndrome type 2
DIS7OJKJ: Usher syndrome type 2A
Disease Identifiers
MONDO ID
MONDO_0010169
MESH ID
C536490
UMLS CUI
C1848634
OMIM ID
276901
MedGen ID
338513

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USH2A OT6QRP86 Definitive Autosomal recessive [1]
ADGRV1 OTLVXHHP Strong Genetic Variation [3]
CDH23 OTOJGQ7S Strong CausalMutation [4]
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This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
USH2A TTVCLLA Definitive Autosomal recessive [1]
USH2A TTVCLLA Definitive CausalMutation [2]
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References

1 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch Ophthalmol. 2007 Feb;125(2):219-24. doi: 10.1001/archopht.125.2.219.
2 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.
3 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43. doi: 10.1167/iovs.04-1136.
4 Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).Otol Neurotol. 2004 Sep;25(5):699-706. doi: 10.1097/00129492-200409000-00009.