Details of Disease | DrugMAP

General Information of Disease (ID: DISGUS75)

Disease Name	Autosomal recessive nonsyndromic hearing loss 101
Synonyms	autosomal recessive nonsyndromic deafness type 101; autosomal recessive nonsyndromic deafness 101; GRXCR2 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2; deafness, autosomal recessive type 101; deafness, autosomal recessive 101; DFNB101; autosomal recessive deafness 101
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISGUS75: Autosomal recessive nonsyndromic hearing loss 101
Disease Identifiers	MONDO ID MONDO_0014363 UMLS CUI C3892049 OMIM ID 615837 MedGen ID 856148

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
GRXCR2	OT4SQDSF	Strong	Autosomal recessive	[1]
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References

1	A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. Hum Mutat. 2014 May;35(5):618-24. doi: 10.1002/humu.22545. Epub 2014 Apr 7.