Details of Disease | DrugMAP

General Information of Disease (ID: DIS0NETF)

Disease Name	Autosomal dominant nonsyndromic hearing loss 44
Synonyms	autosomal dominant nonsyndromic deafness 44; autosomal dominant nonsyndromic deafness caused by mutation in CCDC50; deafness, autosomal dominant 44; CCDC50 autosomal dominant nonsyndromic deafness; autosomal dominant deafness 44; deafness, autosomal dominant type 44; autosomal dominant nonsyndromic deafness type 44; DFNA44
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DIS0NETF: Autosomal dominant nonsyndromic hearing loss 44
Disease Identifiers	MONDO ID MONDO_0011832 MESH ID C564399 UMLS CUI C1843895 OMIM ID 607453 MedGen ID 334525

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
CCDC50	OTSE1YM5	Strong	Autosomal dominant	[1]
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References

1	A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. Am J Hum Genet. 2007 Jun;80(6):1076-89. doi: 10.1086/518311. Epub 2007 Apr 24.