Details of Disease

General Information of Disease (ID: DIS8G9R9)

Disease Name Hearing loss, autosomal recessive
Synonyms
autosomal recessive isolated sensorineural deafness type DFNB; autosomal recessive non-syndromic neurosensory deafness type DFNB; autosomal recessive nonsyndromic genetic deafness; autosomal recessive non-syndromic sensorineural deafness type DFNB; deafness, neurosensory nonsyndromic recessive, DFN; autosomal recessive nonsyndromic deafness; nonsyndromic genetic deafness, autosomal recessive; deafness, autosomal recessive; autosomal recessive isolated neurosensory deafness type DFNB; nonsyndromic deafness, autosomal recessive; hearing loss, autosomal recessive
Definition Autosomal recessive form of nonsyndromic deafness.
Disease Hierarchy
DISY9BCT: Prelingual non-syndromic genetic hearing loss
DISCPWH9: Autosomal recessive disease
DIS3U2K4: Postlingual non-syndromic genetic hearing loss
DISZX61P: Nonsyndromic genetic hearing loss
DIS8G9R9: Hearing loss, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0019588
MESH ID
C564609
UMLS CUI
C1846647
OMIM ID
607197
MedGen ID
337623
Orphanet ID
90636

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 76 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USH1C OTFB6V34 Supportive Autosomal recessive [1]
WBP2 OTBZR5JS Supportive Autosomal recessive [2]
WHRN OT0A9J1A Supportive Autosomal recessive [1]
ADCY1 OTSLLFZO Supportive Autosomal recessive [3]
BDP1 OTJ408I9 Supportive Autosomal recessive [15]
BSND OTYWZWPD Supportive Autosomal recessive [1]
CABP2 OTOD9DW9 Supportive Autosomal recessive [16]
CDC14A OTL10OY6 Supportive Autosomal recessive [17]
CDH23 OTOJGQ7S Supportive Autosomal recessive [1]
CEACAM16 OTUMUSY0 Supportive Autosomal recessive [18]
CIB2 OT9ZJX1I Supportive Autosomal recessive [19]
CLDN14 OTS7GKOI Supportive Autosomal recessive [1]
CLIC5 OTS315DX Supportive Autosomal recessive [20]
COL11A2 OT3BQUBH Supportive Autosomal recessive [1]
DCDC2 OTSUFH1H Supportive Autosomal recessive [21]
ELMOD3 OTLBB4DJ Supportive Autosomal recessive [22]
EPS8 OTZ6ES6V Supportive Autosomal recessive [23]
EPS8L2 OT6OD55E Supportive Autosomal recessive [24]
ESPN OT7Z6LX2 Supportive Autosomal recessive [1]
ESRRB OT26ZBVF Supportive Autosomal recessive [1]
GIPC3 OT8U28XD Supportive Autosomal recessive [25]
GJB3 OTLJ59E7 Supportive Autosomal recessive [4]
GJB6 OT9QQDZB Supportive Autosomal recessive [1]
GPSM2 OT6RPMRM Supportive Autosomal recessive [1]
GRAP OTO1P7YX Supportive Autosomal recessive [26]
GRXCR1 OTPLNL6U Supportive Autosomal recessive [1]
GRXCR2 OT4SQDSF Supportive Autosomal recessive [27]
HGF OTGHUA23 Supportive Autosomal recessive [1]
ILDR1 OTQK8XLK Supportive Autosomal recessive [25]
KARS1 OT0EU4SV Supportive Autosomal recessive [28]
LHFPL5 OTNDTO5B Supportive Autosomal recessive [1]
LOXHD1 OTOJ2RHI Supportive Autosomal recessive [1]
LRTOMT OTMLESUJ Supportive Autosomal recessive [1]
MARVELD2 OTKB96L5 Supportive Autosomal recessive [1]
MET OT7K55MU Supportive Autosomal recessive [5]
MPZL2 OTKFNDUI Supportive Autosomal recessive [29]
MSRB3 OT4UZXMN Supportive Autosomal recessive [25]
MYO15A OTVR4DV8 Supportive Autosomal recessive [1]
MYO3A OTPM8PHS Supportive Autosomal recessive [1]
MYO6 OTJQYRC7 Supportive Autosomal recessive [1]
MYO7A OTBZSPEL Supportive Autosomal recessive [1]
NARS2 OTL5X535 Supportive Autosomal recessive [30]
OTOA OTBTEFIE Supportive Autosomal recessive [1]
OTOF OTXQMJY8 Supportive Autosomal recessive [1]
OTOG OT5U4SVN Supportive Autosomal recessive [31]
PCDH15 OTU9C2EH Supportive Autosomal recessive [1]
PJVK OT9S47XC Supportive Autosomal recessive [1]
PNPT1 OTBR2Q0F Supportive Autosomal recessive [32]
PPIP5K2 OTO61OBN Supportive Autosomal recessive [33]
RDX OTNSYUN6 Supportive Autosomal recessive [1]
RIPOR2 OTXB6LIR Supportive Autosomal recessive [34]
ROR1 OTEUYEW6 Supportive Autosomal recessive [6]
S1PR2 OTRTJF29 Supportive Autosomal recessive [7]
SERPINB6 OT7G55IK Supportive Autosomal recessive [25]
SLC26A4 OTXUTLVS Supportive Autosomal recessive [1]
SLC26A5 OTDAOST4 Supportive Autosomal recessive [1]
SLITRK6 OTLNWI5G Supportive Autosomal recessive [8]
STRC OT3JQYVJ Supportive Autosomal recessive [1]
SYNE4 OTFWZSV7 Supportive Autosomal recessive [35]
TBC1D24 OTKZUSMD Supportive Autosomal recessive [36]
TECTA OT5E0NE2 Supportive Autosomal recessive [1]
TMC1 OTHYH8MU Supportive Autosomal recessive [1]
TMEM132E OTHCX3RI Supportive Autosomal recessive [37]
TMIE OTQR4RRB Supportive Autosomal recessive [1]
TMPRSS3 OT0GTO1Z Supportive Autosomal recessive [1]
TPRN OTNWY6HP Supportive Autosomal recessive [1]
TSPEAR OT2LKDD0 Supportive Autosomal recessive [38]
ATP6V1B1 OT8FQ7MN moderate Biomarker [39]
ATP8A2 OTDZC2ZT moderate Biomarker [10]
DIAPH3 OTPOT23F moderate Genetic Variation [40]
DMXL2 OTB4JWN3 moderate Biomarker [41]
FOXI1 OT2UFOE2 moderate Biomarker [42]
NEUROG1 OTMJZP9G moderate Genetic Variation [14]
GJB2 OTBKLEYB Definitive Autosomal recessive [12]
PDZD7 OTX3VAOB Definitive Autosomal recessive [12]
TRIOBP OTGB5WHC Definitive Autosomal recessive [12]
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⏷ Show the Full List of 76 DOT(s)
This Disease Is Related to 15 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADCY1 TTV1ZSQ Limited Biomarker [3]
ADCY1 TTV1ZSQ Supportive Autosomal recessive [3]
ESRRB TTKF0XS Supportive Autosomal recessive [1]
GJB3 TTVRQ8L Supportive Autosomal recessive [4]
GJB6 TTAU8SJ Supportive Autosomal recessive [1]
HGF TT4V2JM Supportive Autosomal recessive [1]
MET TTNDSF4 Supportive Autosomal recessive [5]
ROR1 TTDEJAU Supportive Autosomal recessive [6]
S1PR2 TTVSMOH Supportive Autosomal recessive [7]
SLITRK6 TTTVEKI Supportive Autosomal recessive [8]
GJB3 TTVRQ8L Strong Biomarker [9]
GJB6 TTAU8SJ Strong Biomarker [10]
SLC26A4 TT7X02I Strong Genetic Variation [11]
GJB2 TTRGZX3 Definitive Autosomal recessive [12]
GJB2 TTRGZX3 Definitive Genetic Variation [13]
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⏷ Show the Full List of 15 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A4 DTGUASD Supportive Autosomal recessive [1]
SLC26A5 DTPGHJ7 Supportive Autosomal recessive [1]
SLC22A4 DT2EG60 moderate Genetic Variation [14]
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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 Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. EMBO Mol Med. 2016 Mar 1;8(3):191-207. doi: 10.15252/emmm.201505523.
3 Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29.
4 Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet. 2000 Jan 1;9(1):63-7. doi: 10.1093/hmg/9.1.63.
5 A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. J Med Genet. 2015 Aug;52(8):548-52. doi: 10.1136/jmedgenet-2015-103023. Epub 2015 May 4.
6 ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. doi: 10.1073/pnas.1522512113. Epub 2016 May 9.
7 Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.
8 SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1.
9 Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845.
10 Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7.
11 Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.J Mol Diagn. 2019 Jan;21(1):138-148. doi: 10.1016/j.jmoldx.2018.08.007. Epub 2018 Sep 28.
12 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.
13 Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429.
14 A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].Behav Brain Funct. 2013 Feb 18;9:7. doi: 10.1186/1744-9081-9-7.
15 Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. PLoS One. 2013 Dec 2;8(12):e80323. doi: 10.1371/journal.pone.0080323. eCollection 2013.
16 A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi: 10.1016/j.ajhg.2012.08.018. Epub 2012 Sep 13.
17 Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015.
18 Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment. J Med Genet. 2018 Aug;55(8):555-560. doi: 10.1136/jmedgenet-2018-105349. Epub 2018 Apr 27.
19 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.
20 Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30.
21 A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Hum Mol Genet. 2015 May 1;24(9):2482-91. doi: 10.1093/hmg/ddv009. Epub 2015 Jan 18.
22 An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLoS Genet. 2013;9(9):e1003774. doi: 10.1371/journal.pgen.1003774. Epub 2013 Sep 5.
23 EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis. 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55.
24 EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Orphanet J Rare Dis. 2015 Aug 19;10:96. doi: 10.1186/s13023-015-0316-8.
25 [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.
26 Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4.
27 A frameshift mutation in GRXCR2 causes recessively inherited hearing loss. Hum Mutat. 2014 May;35(5):618-24. doi: 10.1002/humu.22545. Epub 2014 Apr 7.
28 Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13.
29 MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28.
30 Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar.
31 Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
32 A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18.
33 Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS Genet. 2018 Mar 28;14(3):e1007297. doi: 10.1371/journal.pgen.1007297. eCollection 2018 Mar.
34 FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23.
35 The LINC complex is essential for hearing. J Clin Invest. 2013 Feb;123(2):740-50. doi: 10.1172/JCI66911. Epub 2013 Jan 25.
36 Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.
37 Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. Hum Mutat. 2015 Jan;36(1):98-105. doi: 10.1002/humu.22712. Epub 2014 Nov 28.
38 Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7.
39 Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.Hum Mol Genet. 2017 Oct 1;26(19):3722-3735. doi: 10.1093/hmg/ddx257.
40 Molecular study of patients with auditory neuropathy.Mol Med Rep. 2016 Jul;14(1):481-90. doi: 10.3892/mmr.2016.5226. Epub 2016 May 9.
41 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.
42 A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.Am J Med Genet A. 2013 Aug;161A(8):1904-9. doi: 10.1002/ajmg.a.36026. Epub 2013 Jul 4.