Details of Disease | DrugMAP

General Information of Disease (ID: DISJM4HA)

Disease Name	Autosomal recessive nonsyndromic hearing loss 103
Synonyms	autosomal recessive nonsyndromic deafness type 103; autosomal recessive deafness 103; deafness, autosomal recessive type 103; CLIC5 autosomal recessive nonsyndromic deafness; DFNB103; autosomal recessive nonsyndromic deafness 103; deafness, autosomal recessive 103; autosomal recessive nonsyndromic deafness caused by mutation in CLIC5
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISJM4HA: Autosomal recessive nonsyndromic hearing loss 103
Disease Identifiers	MONDO ID MONDO_0014469 UMLS CUI C4015050 OMIM ID 616042 MedGen ID 863487

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
CLIC5	OTS315DX	Moderate	Autosomal recessive	[1]
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References

1	Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30.