Details of Disease | DrugMAP

General Information of Disease (ID: DISNONVR)

Disease Name	Autosomal recessive nonsyndromic hearing loss 53
Synonyms	deafness, autosomal recessive 53; deafness, autosomal recessive type 53; DFNB53; autosomal recessive nonsyndromic deafness caused by mutation in COL11A2; autosomal recessive nonsyndromic deafness type 53; autosomal recessive nonsyndromic deafness 53; autosomal recessive deafness 53; COL11A2 autosomal recessive nonsyndromic deafness
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISNONVR: Autosomal recessive nonsyndromic hearing loss 53
Disease Identifiers	MONDO ID MONDO_0012333 MESH ID C566453 UMLS CUI C1864746 OMIM ID 609706 MedGen ID 400602

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
COL11A2	OT3BQUBH	Definitive	Autosomal recessive	[1]
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References

1	Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 Oct;42(10):e61. doi: 10.1136/jmg.2005.032615. Epub 2005 Jul 20.