Details of Disease

General Information of Disease (ID: DISZ795Z)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 5
• Synonyms: deafness, autosomal dominant 5; DFNA5; deafness, autosomal dominant type 5; GSDME autosomal dominant nonsyndromic deafness; autosomal dominant deafness 5; autosomal dominant nonsyndromic deafness caused by mutation in GSDME; autosomal dominant nonsyndromic deafness type 5; autosomal dominant nonsyndromic deafness 5
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISZ795Z: Autosomal dominant nonsyndromic hearing loss 5
• Disease Identifiers:
  MONDO ID: MONDO_0010973
  MESH ID: C563410
  UMLS CUI: C1832932
  OMIM ID: 600994
  MedGen ID: 331398

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EPB41L4B	OT2K30P7	Strong	Genetic Variation	[1]
GSDME	OT1ZWY32	Strong	Autosomal dominant	[2]
KTN1	OTQAV541	Strong	Genetic Variation	[1]
MAMLD1	OT9EVMQY	Strong	Genetic Variation	[1]
NUP42	OTADT64E	Strong	Genetic Variation	[1]

References

• [1] Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.Eur J Hum Genet. 1997 Nov-Dec;5(6):397-405.
• [2] A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. Biochim Biophys Acta. 2003 Jul 14;1638(2):179-86. doi: 10.1016/s0925-4439(03)00083-8.