Details of Disease | DrugMAP

General Information of Disease (ID: DIS8MY4S)

Disease Name	Autosomal recessive nonsyndromic hearing loss 6
Synonyms	autosomal recessive nonsyndromic deafness caused by mutation in TMIE; deafness, autosomal recessive 6; autosomal recessive nonsyndromic deafness type 6; deafness, autosomal recessive type 6; autosomal recessive nonsyndromic deafness 6; TMIE autosomal recessive nonsyndromic deafness; neurosensory nonsyndromic recessive deafness 6; autosomal recessive deafness 6; DFNB6; autosomal recessive nonsyndromic hearing loss 6
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS8MY4S: Autosomal recessive nonsyndromic hearing loss 6
Disease Identifiers	MONDO ID MONDO_0010965 MESH ID C563418 UMLS CUI C1832992 OMIM ID 600971 MedGen ID 322088

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
TMIE	OTQR4RRB	Strong	Autosomal recessive	[1]
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References

1	Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet. 2002 Sep;71(3):632-6. doi: 10.1086/342193. Epub 2002 Jul 24.