Details of Disease

General Information of Disease (ID: DISDZ6CC)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 1
• Synonyms: hereditary Low frequency hearing loss; autosomal dominant deafness 1; deafness, autosomal dominant 1; autosomal dominant nonsyndromic deafness 1; deafness, autosomal dominant type 1; deafness, progressive Low tone; autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1; DFNA1; autosomal dominant nonsyndromic deafness type 1; deafness, autosomal dominant 1, with or without thrombocytopenia; DIAPH1 autosomal dominant nonsyndromic deafness; LFHL1; Konigsmark syndrome; hereditary low frequency hearing loss 1
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISDZ6CC: Autosomal dominant nonsyndromic hearing loss 1
• Disease Identifiers:
  MONDO ID: MONDO_0007424
  MESH ID: C565121
  UMLS CUI: C1852282
  OMIM ID: 124900
  MedGen ID: 343767

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
MYO1C	OT69L39Y	Disputed	Biomarker	[1]
DIAPH1	OTZBYPLH	Strong	Autosomal dominant	[2]
GSDME	OT1ZWY32	Definitive	Biomarker	[3]

References

• [1] Myo1c mutations associated with hearing loss cause defects in the interaction with nucleotide and actin.Cell Mol Life Sci. 2011 Jan;68(1):139-50. doi: 10.1007/s00018-010-0448-x. Epub 2010 Jul 17.
• [2] Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet. 2015 Feb;23(2):165-72. doi: 10.1038/ejhg.2014.82. Epub 2014 Apr 30.
• [3] Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea.Sci Rep. 2016 Feb 26;6:22250. doi: 10.1038/srep22250.