Details of Disease

General Information of Disease (ID: DISNPE5M)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 25
• Synonyms: autosomal dominant deafness 25; deafness, autosomal dominant 25; autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8; deafness, autosomal dominant type 25; autosomal dominant nonsyndromic deafness 25; DFNA25; SLC17A8 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness type 25
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISNPE5M: Autosomal dominant nonsyndromic hearing loss 25
• Disease Identifiers:
  MONDO ID: MONDO_0011568
  MESH ID: C565319
  UMLS CUI: C1854158
  OMIM ID: 605583
  MedGen ID: 344221

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	TTKP2SU	Strong	Biomarker	[1]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A8	DTAGDH7	Strong	Autosomal dominant	[2]
SLC17A8	DTAGDH7	Strong	Biomarker	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC17A8	OTQULEQ4	Strong	Autosomal dominant	[2]

References

• [1] Hearing impairment in TRPV4 knockout mice.Neurosci Lett. 2005 Jul 15;382(3):304-8. doi: 10.1016/j.neulet.2005.03.035. Epub 2005 Apr 13.
• [2] Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet. 2008 Aug;83(2):278-92. doi: 10.1016/j.ajhg.2008.07.008.
• [3] Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20.