Details of Disease

General Information of Disease (ID: DISPBW4Z)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 12
• Synonyms: DFNA12; deafness, autosomal dominant 12; autosomal dominant nonsyndromic deafness type 12; DFNA8; TECTA autosomal dominant nonsyndromic deafness; autosomal dominant deafness 12; autosomal dominant deafness 8; deafness, autosomal dominant 8; autosomal dominant nonsyndromic deafness caused by mutation in TECTA; deafness, autosomal dominant type 12; autosomal dominant nonsyndromic deafness 12; deafness, autosomal dominant 8/12; autosomal dominant nonsyndromic hearing loss 12
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISPBW4Z: Autosomal dominant nonsyndromic hearing loss 12
• Disease Identifiers:
  MONDO ID: MONDO_0011102
  MESH ID: C563295
  UMLS CUI: C1832187
  OMIM ID: 601543
  MedGen ID: 321902

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TECTA	OT5E0NE2	Strong	Autosomal dominant	[1]
MYO7A	OTBZSPEL	Definitive	Genetic Variation	[2]

References

• [1] A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron. 2000 Oct;28(1):273-85. doi: 10.1016/s0896-6273(00)00102-1.
• [2] A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.Am J Hum Genet. 1997 May;60(5):1168-73.