Details of Disease | DrugMAP

General Information of Disease (ID: DIS3GZXU)

Disease Name	Autosomal dominant nonsyndromic hearing loss 20
Synonyms	autosomal dominant nonsyndromic deafness 20; autosomal dominant nonsyndromic deafness type 20; autosomal dominant nonsyndromic deafness caused by mutation in ACTG1; ACTG1 autosomal dominant nonsyndromic deafness; deafness, autosomal dominant 20; autosomal dominant deafness 20; DFNA20; deafness, autosomal dominant 20/26; DFNA26; deafness, autosomal dominant type 20
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DIS3GZXU: Autosomal dominant nonsyndromic hearing loss 20
Disease Identifiers	MONDO ID MONDO_0011480 MESH ID C565754 UMLS CUI C1858172 OMIM ID 604717 MedGen ID 346852

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
ACTG1	TTGAZF9	Strong	Autosomal dominant	[1]
ACTG1	TTGAZF9	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	OTH4V7VQ	Strong	Autosomal dominant	[1]
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References

1	Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov;73(5):1082-91. doi: 10.1086/379286. Epub 2003 Sep 16.
2	Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.J Transl Med. 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1.