Details of Disease | DrugMAP

General Information of Disease (ID: DISPDPK0)

Disease Name	Autosomal dominant nonsyndromic hearing loss 58
Synonyms	autosomal dominant nonsyndromic deafness 58; autosomal dominant deafness 58; DFNA58; autosomal dominant nonsyndromic deafness type 58; deafness, autosomal dominant 58
Definition	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISPDPK0: Autosomal dominant nonsyndromic hearing loss 58
Disease Identifiers	MONDO ID MONDO_0014293 UMLS CUI C3888210 OMIM ID 615654 MedGen ID 854817

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
CNRIP1	OTXPWJ56	Limited	Autosomal dominant	[1]
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References

1	A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. Hum Mol Genet. 2020 Jun 3;29(9):1520-1536. doi: 10.1093/hmg/ddaa075.