Details of Disease | DrugMAP

General Information of Disease (ID: DIS9FY16)

Disease Name	Autosomal dominant nonsyndromic hearing loss 66
Synonyms	autosomal dominant deafness 66; deafness, autosomal dominant 66; CD164 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness 66; DFNA66; autosomal dominant nonsyndromic deafness caused by mutation in CD164; deafness, autosomal dominant type 66; autosomal dominant nonsyndromic deafness type 66
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DIS9FY16: Autosomal dominant nonsyndromic hearing loss 66
Disease Identifiers	MONDO ID MONDO_0014854 UMLS CUI C4283893 OMIM ID 616969 MedGen ID 924418

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
CD164	OTZ7FIU8	Limited	Autosomal dominant	[1]
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References

1	A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul.