Details of Disease

General Information of Disease (ID: DISNC0AY)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 29
• Synonyms: deafness, autosomal recessive type 29; DFNB29; autosomal recessive nonsyndromic deafness caused by mutation in CLDN14; autosomal recessive nonsyndromic deafness 29; autosomal recessive deafness 29; CLDN14 autosomal recessive nonsyndromic deafness; deafness, autosomal recessive 29; autosomal recessive nonsyndromic deafness type 29; autosomal recessive nonsyndromic hearing loss 29
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISNC0AY: Autosomal recessive nonsyndromic hearing loss 29
• Disease Identifiers:
  MONDO ID: MONDO_0013537
  UMLS CUI: C3279660
  OMIM ID: 614035
  MedGen ID: 481290

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLDN14	OTS7GKOI	Strong	Autosomal recessive	[1]

References

• [1] Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell. 2001 Jan 12;104(1):165-72. doi: 10.1016/s0092-8674(01)00200-8.