General Information of Disease (ID: DISBEWBO)

Disease Name Autosomal dominant nonsyndromic hearing loss 10
Synonyms
autosomal dominant nonsyndromic deafness caused by mutation in EYA4; autosomal dominant nonsyndromic deafness 10; EYA4 autosomal dominant nonsyndromic deafness; deafness, autosomal dominant type 10; deafness, autosomal dominant 10; autosomal dominant nonsyndromic deafness type 10; autosomal dominant deafness 10; DFNA10; autosomal dominant nonsyndromic hearing loss 10
Definition Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.
Disease Hierarchy
DISYC1G0: Autosomal dominant nonsyndromic hearing loss
DISBEWBO: Autosomal dominant nonsyndromic hearing loss 10
Disease Identifiers
MONDO ID
MONDO_0011031
MESH ID
C563354
UMLS CUI
C1832476
OMIM ID
601316
MedGen ID
321966

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TECTA OT5E0NE2 Disputed Biomarker [1]
EYA4 OTINGR3Z Strong Autosomal dominant [2]
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References

1 Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Front Med. 2016 Jun;10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3.
2 Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet. 2001 Feb 1;10(3):195-200. doi: 10.1093/hmg/10.3.195.