Details of Disease | DrugMAP

General Information of Disease (ID: DIS4UT0F)

Disease Name	Autosomal recessive nonsyndromic hearing loss 74
Synonyms	deafness, autosomal recessive type 74; DFNB74; autosomal recessive nonsyndromic deafness 74; autosomal recessive deafness 74; MSRB3 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness type 74; autosomal recessive nonsyndromic deafness caused by mutation in MSRB3; deafness, autosomal recessive 74
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS4UT0F: Autosomal recessive nonsyndromic hearing loss 74
Disease Identifiers	MONDO ID MONDO_0013386 UMLS CUI C2239351 OMIM ID 613718 MedGen ID 453237

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
MSRB3	OT4UZXMN	Strong	Autosomal recessive	[1]
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References

1	Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet. 2011 Jan 7;88(1):19-29. doi: 10.1016/j.ajhg.2010.11.010. Epub 2010 Dec 23.