Details of Disease

General Information of Disease (ID: DISHW62E)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 3B
• Synonyms: autosomal dominant nonsyndromic deafness type 3B; autosomal dominant deafness 3B; DFNA3B; autosomal dominant nonsyndromic deafness caused by mutation in GJB6; GJB6 autosomal dominant nonsyndromic deafness; deafness, autosomal dominant 3b; autosomal dominant nonsyndromic deafness 3B; deafness, autosomal dominant type 3B; deafness, autosomal dominant 3B
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISHW62E: Autosomal dominant nonsyndromic hearing loss 3B
• Disease Identifiers:
  MONDO ID: MONDO_0012975
  MESH ID: C567215
  UMLS CUI: C2675237
  OMIM ID: 612643
  MedGen ID: 436382

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB6	TTAU8SJ	Moderate	Autosomal dominant	[1]
GJB6	TTAU8SJ	moderate	CausalMutation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB6	OT9QQDZB	Moderate	Autosomal dominant	[1]

References

• [1] 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.
• [2] Immune system disturbances in Clouston syndrome.Int J Dermatol. 2016 May;55(5):e241-9. doi: 10.1111/ijd.13152. Epub 2015 Nov 9.