Details of Disease | DrugMAP

General Information of Disease (ID: DISWH1QV)

Disease Name	Autosomal dominant nonsyndromic hearing loss 40
Synonyms	DFNA40; deafness, autosomal dominant type 40; deafness, autosomal dominant 40; autosomal dominant nonsyndromic deafness 40; autosomal dominant nonsyndromic deafness caused by mutation in CRYM; autosomal dominant nonsyndromic deafness type 40; CRYM autosomal dominant nonsyndromic deafness; autosomal dominant deafness 40; autosomal dominant nonsyndromic hearing loss 40
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISWH1QV: Autosomal dominant nonsyndromic hearing loss 40
Disease Identifiers	MONDO ID MONDO_0014603 UMLS CUI C4084708 OMIM ID 616357 MedGen ID 896665

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
CRYM	OTRGSR6B	Moderate	Autosomal dominant	[1]
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References

1	Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 2003 Jan;72(1):73-82. doi: 10.1086/345398. Epub 2002 Dec 6.