Usher syndrome

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Information
Disease name
Usher syndrome
Disease ID
DOID:0050439
Description
"A syndrome characterized by a combination of hearing loss and visual impairment." [url:http\://en.wikipedia.org/wiki/Usher_syndrome]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
MYO7A 11 77,128,246 77,215,241 88
USH2A 1 215,622,891 216,423,448 12
ADGRV1 5 90,558,797 91,164,437 6
MYO7A 11 77,128,246 77,215,241 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03319524 Completed Clinical and Genetic Testing of Patients With Usher Syndrome May 17, 2017 June 1, 2018
NCT00106743 Completed Natural History and Genetic Studies of Usher Syndrome March 21, 2005 April 30, 2019
NCT00016471 Completed A Genetic Analysis of Usher Syndrome in Ashkenazi Jews March 2001 February 2002
NCT02435940 Recruiting Inherited Retinal Degenerative Disease Registry June 2014 June 2037
NCT04906135 Recruiting N/A Auditory Neural Function in Implanted Patients With Usher Syndrome October 1, 2021 June 30, 2025
NCT00004345 Terminated Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome October 1999
NCT01505062 Terminated Phase 1/Phase 2 Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B March 26, 2012 August 16, 2019
NCT01954953 Unknown status Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe September 2013
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:7843
Cross Reference ID (Disease Ontology)
MESH:D052245
Cross Reference ID (Disease Ontology)
MIM:PS276900
Cross Reference ID (Disease Ontology)
NCI:C85217
Cross Reference ID (Disease Ontology)
ORDO:886
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:57838006
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0271097
OMIM Phenotype Series Number (OMIM)
PS276900
OrphaNumber from OrphaNet (Orphanet)
886