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Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive

MedGen UID:
432739
Concept ID:
CN043650
Disease or Syndrome
Related genes: PJVK, GRXCR1, SLC26A5, PTPRQ, ILDR1, TPRN, TMIE, MSRB3, LHFPL5, LRTOMT, STRC, MARVELD2, OTOA, GIPC3, LOXHD1, TMC1, ESPN, PCDH15, TMPRSS3, CDH23, MYO3A, DCDC2, MYO15A, GPSM2, WHRN, CLDN14, TRIOBP, GJB6, CIB2, USH1C, OTOF, S1PR2, CDC14A, CLPP, TECTA, RDX, SERPINB6, SLC26A4, MYO7A, MYO6, KCNJ10, KARS1, HGF, GJB3, GJB2, GAB1, FOXI1, ESRRB, COL11A2, ATP2B2, ADCY1

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Na G, Choi HJ, Joo SY, Rim JH, Kim JA, Kim HY, Yu S, Jeong Y, Shin GC, Noh HE, Lee HY, Kim DH, Gee HY, Jung J, Choi JY
Hear Res 2021 May;404:108227. Epub 2021 Mar 19 doi: 10.1016/j.heares.2021.108227. PMID: 33784549
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X
Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M
Genet Med 2016 Apr;18(4):364-71. Epub 2015 Jul 30 doi: 10.1038/gim.2015.89. PMID: 26226137Free PMC Article
Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R
Int J Pediatr Otorhinolaryngol 2013 May;77(5):714-6. Epub 2013 Feb 19 doi: 10.1016/j.ijporl.2013.01.024. PMID: 23434199

Diagnosis

Panigrahi I, Kumari D, Anil Kumar BN
J Genet 2021;100 PMID: 34238775
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Shang H, Yan D, Tayebi N, Saeidi K, Sahebalzamani A, Feng Y, Blanton S, Liu X
Biomed Res Int 2018;2018:3103986. Epub 2018 Jan 15 doi: 10.1155/2018/3103986. PMID: 29568747Free PMC Article
Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P
PLoS One 2014;9(11):e108134. Epub 2014 Nov 5 doi: 10.1371/journal.pone.0108134. PMID: 25372295Free PMC Article
Woo HM, Park HJ, Baek JI, Park MH, Kim UK, Sagong B, Koo SK
BMC Med Genet 2013 Jul 17;14:72. doi: 10.1186/1471-2350-14-72. PMID: 23865914Free PMC Article

Prognosis

Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X
Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article

Clinical prediction guides

Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Pepper MS, Liu XZ
Mol Genet Genomic Med 2022 Oct;10(10):e2015. Epub 2022 Aug 27 doi: 10.1002/mgg3.2015. PMID: 36029164Free PMC Article
Ramzan K, Al-Owain M, Al-Numair NS, Afzal S, Al-Ageel S, Al-Amer S, Al-Baik L, Al-Otaibi GF, Hashem A, Al-Mashharawi E, Basit S, Al-Mazroea AH, Softah A, Sogaty S, Imtiaz F
Am J Med Genet B Neuropsychiatr Genet 2020 Apr;183(3):172-180. Epub 2019 Dec 19 doi: 10.1002/ajmg.b.32774. PMID: 31854501
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Asgharzade S, Tabatabaiefar MA, Modarressi MH, Ghahremani MH, Reiisi S, Tahmasebi P, Abdollahnejad F, Chaleshtori MH
Int J Pediatr Otorhinolaryngol 2017 Jan;92:88-93. Epub 2016 Nov 15 doi: 10.1016/j.ijporl.2016.11.010. PMID: 28012541
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article

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