Details of Disease

General Information of Disease (ID: DISBK1WH)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 4A
• Synonyms: autosomal dominant nonsyndromic deafness caused by mutation in MYH14; autosomal dominant nonsyndromic deafness 4A; deafness, autosomal dominant 4A; autosomal dominant deafness 4A; MYH14 autosomal dominant nonsyndromic deafness; DFNA4A; deafness, autosomal dominant 4; deafness, autosomal dominant 4a; autosomal dominant nonsyndromic deafness type 4A; deafness, autosomal dominant type 4A
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISBK1WH: Autosomal dominant nonsyndromic hearing loss 4A
• Disease Identifiers:
  MONDO ID: MONDO_0010915
  MESH ID: C563460
  UMLS CUI: C1833503
  OMIM ID: 600652
  MedGen ID: 322209

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEACAM16	OTUMUSY0	moderate	Biomarker	[1]
MYH14	OT1TZEJK	Definitive	Autosomal dominant	[2]

References

• [1] Loss of mammal-specific tectorial membrane component carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads to hearing impairment at low and high frequencies.J Biol Chem. 2012 Jun 22;287(26):21584-98. doi: 10.1074/jbc.M111.320481. Epub 2012 Apr 27.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.