Details of Disease | DrugMAP

General Information of Disease (ID: DISDW504)

Disease Name	Autosomal recessive nonsyndromic hearing loss 61
Synonyms	SLC26A5 autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 61; autosomal recessive nonsyndromic deafness type 61; DFNB61; autosomal recessive nonsyndromic deafness 61; autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5; deafness, autosomal recessive 61; autosomal recessive deafness 61
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISDW504: Autosomal recessive nonsyndromic hearing loss 61
Disease Identifiers	MONDO ID MONDO_0013471 UMLS CUI C3151230 OMIM ID 613865 MedGen ID 462580

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A5	DTPGHJ7	Strong	Autosomal recessive	[1]
SLC26A5	DTPGHJ7	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC26A5	OTDAOST4	Strong	Autosomal recessive	[1]
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References

1	Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis. 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172.
2	Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.