General Information of Disease (ID: DISHLH3F)

Disease Name Autosomal dominant nonsyndromic hearing loss 22
Synonyms
DFNA 22; autosomal dominant nonsyndromic deafness caused by mutation in MYO6; DFNA22; deafness, autosomal dominant 22; deafness, autosomal dominant nonsyndromic sensorineural 22; autosomal dominant nonsyndromic deafness 22; MYO6 autosomal dominant nonsyndromic deafness; autosomal dominant deafness 22; deafness, autosomal dominant 22, with hypertrophic cardiomyopathy; deafness, autosomal dominant type 22; autosomal dominant nonsyndromic deafness type 22
Definition Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.
Disease Hierarchy
DISYC1G0: Autosomal dominant nonsyndromic hearing loss
DISHLH3F: Autosomal dominant nonsyndromic hearing loss 22
Disease Identifiers
MONDO ID
MONDO_0011660
MESH ID
C538197
UMLS CUI
C2931767
OMIM ID
606346
MedGen ID
419894

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
MYO6 OTJQYRC7 Strong Autosomal dominant [1]
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References

1 Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. Eur J Hum Genet. 2014 Jun;22(6):768-75. doi: 10.1038/ejhg.2013.232. Epub 2013 Oct 9.