Details of Disease | DrugMAP

General Information of Disease (ID: DISSJHBZ)

Disease Name	Autosomal dominant nonsyndromic hearing loss 28
Synonyms	autosomal dominant nonsyndromic deafness 28; autosomal dominant nonsyndromic deafness type 28; autosomal dominant nonsyndromic deafness caused by mutation in GRHL2; GRHL2 autosomal dominant nonsyndromic deafness; DFNA28; deafness, autosomal dominant type 28; deafness, autosomal dominant 28; autosomal dominant deafness 28
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISSJHBZ: Autosomal dominant nonsyndromic hearing loss 28
Disease Identifiers	MONDO ID MONDO_0012083 MESH ID C563890 UMLS CUI C1837640 OMIM ID 608641 MedGen ID 324846

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRHL2	TTUGH4C	Strong	Autosomal dominant	[1]
GRHL2	TTUGH4C	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRHL2	OT3LF27F	Strong	Autosomal dominant	[1]
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References

1	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
2	Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 4;95(3):308-14. doi: 10.1016/j.ajhg.2014.08.001. Epub 2014 Aug 21.