Details of Disease

General Information of Disease (ID: DISYC1G0)

• Disease Name: Autosomal dominant nonsyndromic hearing loss
• Synonyms: autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic genetic deafness; nonsyndromic genetic deafness, autosomal dominant; autosomal dominant non-syndromic neurosensory deafness type DFNA; autosomal dominant isolated deafness; autosomal dominant isolated neurosensory deafness type DFNA; nonsyndromic deafness, autosomal dominant; autosomal dominant nonsyndromic hearing loss and deafness; autosomal dominant non-syndromic sensorineural deafness type DFNA; autosomal dominant isolated sensorineural deafness type DFNA; deafness, autosomal dominant; autosomal dominant deafness; autosomal dominant nonsyndromic hearing impairment; autosomal dominant non-syndromic sensorineural hearing loss type DFNA; autosomal dominant isolated sensorineural hearing loss type DFNA; autosomal dominant nonsyndromic hearing loss; autosomal dominant isolated neurosensory hearing loss type DFNA; autosomal dominant non-syndromic neurosensory hearing loss type DFNA
• Definition: Autosomal dominant form of nonsyndromic deafness.
• Disease Hierarchy:
  DISY9BCT: Prelingual non-syndromic genetic hearing loss
  DIS3U2K4: Postlingual non-syndromic genetic hearing loss
  DISZX61P: Nonsyndromic genetic hearing loss
  DIS3HIWD: Autosomal dominant disease
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
• Disease Identifiers:
  MONDO ID: MONDO_0019587
  UMLS CUI: C5779548
  MedGen ID: 1843285
  Orphanet ID: 90635

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 41 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WFS1	OTYF2UYI	Supportive	Autosomal dominant	[1]
ABCC1	OTGUN89S	Supportive	Autosomal dominant	[6]
ACTG1	OTH4V7VQ	Supportive	Autosomal dominant	[1]
CCDC50	OTSE1YM5	Supportive	Autosomal dominant	[1]
CD164	OTZ7FIU8	Supportive	Autosomal dominant	[8]
CEACAM16	OTUMUSY0	Supportive	Autosomal dominant	[9]
COCH	OTBEHD89	Supportive	Autosomal dominant	[1]
COL11A2	OT3BQUBH	Supportive	Autosomal dominant	[1]
CRYM	OTRGSR6B	Supportive	Autosomal dominant	[10]
DIABLO	OTHJ9MCZ	Supportive	Autosomal dominant	[2]
DIAPH3	OTPOT23F	Supportive	Autosomal dominant	[11]
DMXL2	OTB4JWN3	Supportive	Autosomal dominant	[12]
EYA4	OTINGR3Z	Supportive	Autosomal dominant	[1]
GJB2	OTBKLEYB	Supportive	Autosomal dominant	[1]
GJB3	OTLJ59E7	Supportive	Autosomal dominant	[1]
GJB6	OT9QQDZB	Supportive	Autosomal dominant	[1]
GRHL2	OT3LF27F	Supportive	Autosomal dominant	[1]
HOMER2	OT4JGKJF	Supportive	Autosomal dominant	[13]
KCNQ4	OT29B58J	Supportive	Autosomal dominant	[1]
KITLG	OTB9AVQ4	Supportive	Autosomal dominant	[3]
MCM2	OTGGORIQ	Supportive	Autosomal dominant	[14]
MYH14	OT1TZEJK	Supportive	Autosomal dominant	[1]
MYH9	OT94Z706	Supportive	Autosomal dominant	[1]
MYO1C	OT69L39Y	Supportive	Autosomal dominant	[15]
MYO6	OTJQYRC7	Supportive	Autosomal dominant	[1]
MYO7A	OTBZSPEL	Supportive	Autosomal dominant	[1]
OSBPL2	OTCK671N	Supportive	Autosomal dominant	[16]
P2RX2	OT0LF34A	Supportive	Autosomal dominant	[17]
PDE1C	OT5VWYPI	Supportive	Autosomal dominant	[4]
PLS1	OTWURB8U	Supportive	Autosomal dominant	[18]
POU4F3	OTILD0XS	Supportive	Autosomal dominant	[1]
SIX1	OT70YYWM	Supportive	Autosomal dominant	[1]
SLC17A8	OTQULEQ4	Supportive	Autosomal dominant	[1]
SLC44A4	OT1HIORM	Supportive	Autosomal dominant	[7]
TBC1D24	OTKZUSMD	Supportive	Autosomal dominant	[19]
TECTA	OT5E0NE2	Supportive	Autosomal dominant	[1]
TJP2	OTQUY6BV	Supportive	Autosomal dominant	[1]
TMC1	OTHYH8MU	Supportive	Autosomal dominant	[1]
TNC	OTK4FSHR	Supportive	Autosomal dominant	[5]
TRRAP	OT68OI2Y	Supportive	Autosomal dominant	[20]
GSDME	OT1ZWY32	Definitive	Autosomal dominant	[21]

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	TTGAZF9	Supportive	Autosomal dominant	[1]
DIABLO	TTN74LE	Supportive	Autosomal dominant	[2]
GJB2	TTRGZX3	Supportive	Autosomal dominant	[1]
GJB3	TTVRQ8L	Supportive	Autosomal dominant	[1]
GJB6	TTAU8SJ	Supportive	Autosomal dominant	[1]
GRHL2	TTUGH4C	Supportive	Autosomal dominant	[1]
KCNQ4	TT8HGRW	Supportive	Autosomal dominant	[1]
KITLG	TTDJ51N	Supportive	Autosomal dominant	[3]
PDE1C	TTW2HRK	Supportive	Autosomal dominant	[4]
TNC	TTUCPMY	Supportive	Autosomal dominant	[5]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC1	DTSYQGK	Supportive	Autosomal dominant	[6]
SLC17A8	DTAGDH7	Supportive	Autosomal dominant	[1]
SLC44A4	DT8KXR9	Supportive	Autosomal dominant	[7]

References

• [1] Genetic Hearing Loss Overview. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet. 2011 Jul 15;89(1):56-66. doi: 10.1016/j.ajhg.2011.05.027. Epub 2011 Jun 30.
• [3] Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.
• [4] A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. Hum Genet. 2018 Jul;137(6-7):437-446. doi: 10.1007/s00439-018-1895-y. Epub 2018 Jun 2.
• [5] Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013.
• [6] Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. Genet Med. 2019 Dec;21(12):2744-2754. doi: 10.1038/s41436-019-0594-y. Epub 2019 Jul 5.
• [7] SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Hum Mol Genet. 2017 Jan 15;26(2):383-394.
• [8] A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul.
• [9] Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22.
• [10] [Gene therapy for human hearing loss: challenges and promises]. Med Sci (Paris). 2013 Oct;29(10):883-9. doi: 10.1051/medsci/20132910016. Epub 2013 Oct 18.
• [11] Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13396-401. doi: 10.1073/pnas.1003027107. Epub 2010 Jul 12.
• [12] A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. Genet Med. 2017 May;19(5):553-558. doi: 10.1038/gim.2016.142. Epub 2016 Sep 22.
• [13] HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar.
• [14] Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. PLoS One. 2015 Jul 21;10(7):e0133522. doi: 10.1371/journal.pone.0133522. eCollection 2015.
• [15] Are MYO1C and MYO1F associated with hearing loss?. Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5.
• [16] Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. Genet Med. 2015 Mar;17(3):210-8. doi: 10.1038/gim.2014.90. Epub 2014 Jul 31.
• [17] Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2228-33. doi: 10.1073/pnas.1222285110. Epub 2013 Jan 23.
• [18] Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1.
• [19] A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. Hum Mutat. 2014 Jul;35(7):814-8. doi: 10.1002/humu.22558. Epub 2014 May 6.
• [20] Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. Clin Genet. 2019 Oct;96(4):300-308. doi: 10.1111/cge.13590. Epub 2019 Jul 10.
• [21] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.