Details of Disease | DrugMAP

General Information of Disease (ID: DISJPU4M)

Disease Name	Autosomal dominant nonsyndromic hearing loss 15
Synonyms	POU4F3 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness caused by mutation in POU4F3; autosomal dominant nonsyndromic deafness type 15; autosomal dominant deafness 15; autosomal dominant nonsyndromic deafness 15; deafness, autosomal dominant 15; deafness, autosomal dominant type 15; DFNA15
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISJPU4M: Autosomal dominant nonsyndromic hearing loss 15
Disease Identifiers	MONDO ID MONDO_0011226 MESH ID C566545 UMLS CUI C1865366 OMIM ID 602459 MedGen ID 355451

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
POU4F3	OTILD0XS	Strong	Autosomal dominant	[1]
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References

1	Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat. 2008 Apr;29(4):545-54. doi: 10.1002/humu.20693.