Details of Disease

General Information of Disease (ID: DIS9TEL3)

Disease Name Autosomal recessive nonsyndromic hearing loss 42
Synonyms
DFNB42; autosomal recessive nonsyndromic deafness type 42; autosomal recessive nonsyndromic deafness caused by mutation in ILDR1; autosomal recessive nonsyndromic deafness 42; autosomal recessive deafness 42; deafness, autosomal recessive type 42; deafness, autosomal recessive 42; ILDR1 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic hearing loss 42
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DIS9TEL3: Autosomal recessive nonsyndromic hearing loss 42
Disease Identifiers
MONDO ID
MONDO_0012326
MESH ID
C566460
UMLS CUI
C1864818
OMIM ID
609646
MedGen ID
351225

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
ILDR1 OTQK8XLK Strong Autosomal recessive [1]
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References

1 Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20.