Details of Disease

General Information of Disease (ID: DISPY0YJ)

• Disease Name: Autosomal dominant auditory neuropathy 1
• Synonyms: auditory neuropathy, autosomal dominant, 1; auditory neuropathy, nonsyndromic dominant; auditory neuropathy caused by mutation in DIAPH3; autosomal dominant auditory neuropathy type 1; AUNA1; auditory neuropathy, autosomal dominant, type 1; DIAPH3 auditory neuropathy; nonsyndromic dominant auditory neuropathy; NSDAN
• Definition: Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISM6GAU: Auditory neuropathy
  DISPY0YJ: Autosomal dominant auditory neuropathy 1
• Disease Identifiers:
  MONDO ID: MONDO_0012196
  MESH ID: C563790
  UMLS CUI: C1836743
  OMIM ID: 609129
  MedGen ID: 322984

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
DIAPH3	OTPOT23F	Moderate	Autosomal dominant	[1]
PCDH9	OTX3BFV4	Definitive	Genetic Variation	[2]

References

• [1] Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness. PLoS One. 2013;8(2):e56520. doi: 10.1371/journal.pone.0056520. Epub 2013 Feb 18.
• [2] Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).Am J Med Genet A. 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754.