Details of Disease | DrugMAP

General Information of Disease (ID: DISIZYPW)

Disease Name	Autosomal recessive nonsyndromic hearing loss 44
Synonyms	deafness, autosomal recessive 44; autosomal recessive nonsyndromic deafness caused by mutation in ADCY1; autosomal recessive nonsyndromic deafness type 44; autosomal recessive nonsyndromic deafness 44; DFNB44; deafness, autosomal recessive type 44; ADCY1 autosomal recessive nonsyndromic deafness; autosomal recessive deafness 44
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISIZYPW: Autosomal recessive nonsyndromic hearing loss 44
Disease Identifiers	MONDO ID MONDO_0012421 MESH ID C565716 UMLS CUI C1857809 OMIM ID 610154 MedGen ID 341854

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
ADCY1	TTV1ZSQ	Limited	Autosomal recessive	[1]
ADCY1	TTV1ZSQ	Strong	CausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADCY1	OTSLLFZO	Limited	Autosomal recessive	[1]
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References

1	Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29.