Details of Disease

General Information of Disease (ID: DISSWCJS)

• Disease Name: X-linked nonsyndromic hearing loss
• Synonyms: X-linked nonsyndromic deafness; X-linked non-syndromic neurosensory deafness type DFN; nonsyndromic deafness, X-linked; X-linked deafness; X-linked isolated sensorineural deafness type DFN; X-linked isolated neurosensory deafness type DFN; X-linked non-syndromic sensorineural deafness type DFN; nonsyndromic genetic deafness, X-linked; X-linked nonsyndromic genetic deafness; X-linked non-syndromic sensorineural hearing loss type DFN; X-linked isolated sensorineural hearing loss type DFN; X-linked non-syndromic neurosensory hearing loss type DFN; X-linked isolated neurosensory hearing loss type DFN
• Definition: X-linked form of nonsyndromic deafness.|ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408
• Disease Hierarchy:
  DISY9BCT: Prelingual non-syndromic genetic hearing loss
  DIS3U2K4: Postlingual non-syndromic genetic hearing loss
  DISZX61P: Nonsyndromic genetic hearing loss
  DISQHIDS: X-linked deafness
  DISSWCJS: X-linked nonsyndromic hearing loss
• Disease Identifiers:
  MONDO ID: MONDO_0019586
  UMLS CUI: C5680192
  MedGen ID: 1825990
  Orphanet ID: 90625

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A6	OTUREU5Z	Supportive	X-linked	[1]
PRPS1	OTN3A6CN	Supportive	X-linked	[2]
SMPX	OTLSHGBF	Supportive	X-linked	[2]

References

• [1] Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29.
• [2] Genetic Hearing Loss Overview. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.