Details of Disease

General Information of Disease (ID: DISZWPLU)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 3A
• Synonyms: deafness, autosomal dominant 3A; autosomal dominant nonsyndromic deafness type 3A; GJB2 autosomal dominant nonsyndromic deafness; deafness, autosomal dominant type 3A; DFNA3A; autosomal dominant nonsyndromic deafness caused by mutation in GJB2; autosomal dominant deafness 3A; DFNA3; neurosensory nonsyndromic dominant deafness 1; autosomal dominant nonsyndromic deafness 3A; deafness, autosomal dominant nonsyndromic sensorineural 3; NSRD1; deafness, autosomal dominant 3a
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.|Editor note: consider adding grouping for 3A/3B
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISZWPLU: Autosomal dominant nonsyndromic hearing loss 3A
• Disease Identifiers:
  MONDO ID: MONDO_0011103
  MESH ID: C567277
  UMLS CUI: C2675750
  OMIM ID: 601544
  MedGen ID: 436512

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
GJB2	TTRGZX3	moderate	Biomarker	[1]
GJB2	TTRGZX3	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB2	OTBKLEYB	Strong	Autosomal dominant	[2]

References

• [1] Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.
• [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.