Details of Disease | DrugMAP

General Information of Disease (ID: DIS81FPP)

Disease Name	Autosomal dominant nonsyndromic hearing loss 2A
Synonyms	autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4; DFNA2A; autosomal dominant deafness 2A; deafness, autosomal dominant 2a; deafness, autosomal dominant 2A; KCNQ4 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness 2A; autosomal dominant nonsyndromic deafness type 2A; deafness, autosomal dominant type 2A
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DIS81FPP: Autosomal dominant nonsyndromic hearing loss 2A
Disease Identifiers	MONDO ID MONDO_0010817 MESH ID C567441 UMLS CUI C2677637 OMIM ID 600101 MedGen ID 436997

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ4	TT8HGRW	Strong	Autosomal dominant	[1]
KCNQ4	TT8HGRW	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNQ4	OT29B58J	Strong	Autosomal dominant	[1]
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References

1	Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321.
2	A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.Biochem Biophys Res Commun. 2015 Aug 7;463(4):582-6. doi: 10.1016/j.bbrc.2015.05.099. Epub 2015 May 31.