Details of Disease

General Information of Disease (ID: DIS8LD8U)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 1B
• Synonyms: autosomal recessive nonsyndromic deafness type 1B; Autosomal recessive deafness type 1B; GJB6 autosomal recessive nonsyndromic deafness; deafness, autosomal recessive 1b; autosomal recessive deafness 1B; deafness, autosomal recessive 1B; deafness, autosomal recessive type 1B; DFNB1B; autosomal recessive nonsyndromic deafness 1B; autosomal recessive nonsyndromic deafness caused by mutation in GJB6
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DIS8LD8U: Autosomal recessive nonsyndromic hearing loss 1B
• Disease Identifiers:
  MONDO ID: MONDO_0012977
  MESH ID: C567213
  UMLS CUI: C2675235
  OMIM ID: 612645
  MedGen ID: 436381

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	Limited	Autosomal recessive	[1]
GJB6	TTAU8SJ	moderate	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB6	OT9QQDZB	Limited	Autosomal recessive	[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] Expression of the gap-junction connexins 26 and 30 in the rat cochlea.Cell Tissue Res. 1998 Dec;294(3):415-20. doi: 10.1007/s004410051192.