Details of Disease | DrugMAP

General Information of Disease (ID: DISG3IHA)

Disease Name	Autosomal dominant nonsyndromic hearing loss 7
Synonyms	DFNA7; autosomal dominant nonsyndromic deafness type 7; autosomal dominant deafness 7; deafness, autosomal dominant 7; autosomal dominant nonsyndromic deafness 7
Definition	An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISG3IHA: Autosomal dominant nonsyndromic hearing loss 7
Disease Identifiers	MONDO ID MONDO_0011074 MESH ID C563321 UMLS CUI C1832379 OMIM ID 601412 MedGen ID 318614

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
LMX1A	OTEEYD5L	Strong	Autosomal dominant	[1]
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References

1	Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12.