U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive nonsyndromic hearing loss 5(NSRD5; DFNB5)

MedGen UID:
331485
Concept ID:
C1833319
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 5; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 5
 
Monarch Initiative: MONDO:0000912
OMIM®: 600792

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Yang JY, Wang WQ, Han MY, Huang SS, Wang GJ, Su Y, Xu JC, Fu Y, Kang DY, Yang K, Zhang X, Liu X, Gao X, Yuan YY, Dai P
BMC Med Genomics 2022 Nov 18;15(1):241. doi: 10.1186/s12920-022-01368-9. PMID: 36401330Free PMC Article
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Prenat Diagn 2020 Apr;40(5):635-643. Epub 2020 Feb 27 doi: 10.1002/pd.5656. PMID: 32003480
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Etiology

Abbaspour Rodbaneh E, Panahi M, Rahimi B, Mokabber H, Farajollahi R, Davarnia B
J Clin Lab Anal 2021 Nov;35(11):e24024. Epub 2021 Sep 28 doi: 10.1002/jcla.24024. PMID: 34581455Free PMC Article
Koohiyan M, Ahmadi A, Koohian F, Aghaei S, Amiri B, Hashemzadeh-Chaleshtori M
Int J Pediatr Otorhinolaryngol 2019 Apr;119:136-140. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.036. PMID: 30708180
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K
Eur Arch Otorhinolaryngol 2016 May;273(5):1151-4. Epub 2015 Jun 3 doi: 10.1007/s00405-015-3671-0. PMID: 26036852

Diagnosis

Gan NS, Oziębło D, Skarżyński H, Ołdak M
Audiol Neurootol 2023;28(5):327-337. Epub 2023 Apr 28 doi: 10.1159/000529464. PMID: 37121227
Koohiyan M, Ahmadi A, Koohian F, Aghaei S, Amiri B, Hashemzadeh-Chaleshtori M
Int J Pediatr Otorhinolaryngol 2019 Apr;119:136-140. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.036. PMID: 30708180
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
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
Hilgert N, Smith RJH, Van Camp G
Mutat Res 2009 Mar-Jun;681(2-3):189-196. Epub 2008 Aug 29 doi: 10.1016/j.mrrev.2008.08.002. PMID: 18804553Free PMC Article

Therapy

Mojtabavi Naeini M, Mesrian Tanha H, Hashemzadeh Chaleshtori M, Vallian S
Genet Test Mol Biomarkers 2014 Dec;18(12):820-5. doi: 10.1089/gtmb.2014.0178. PMID: 25390158Free PMC Article

Prognosis

Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X
Int J Mol Sci 2022 Mar 21;23(6) doi: 10.3390/ijms23063369. PMID: 35328790Free PMC Article
Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
PLoS Genet 2018 Mar;14(3):e1007297. Epub 2018 Mar 28 doi: 10.1371/journal.pgen.1007297. PMID: 29590114Free PMC Article
Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL
Eur J Hum Genet 2009 May;17(5):554-64. Epub 2008 Dec 24 doi: 10.1038/ejhg.2008.231. PMID: 19107147Free PMC Article
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free 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
Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, Sathappan A, Sheehan P, Panhuys NV, The Qatar Genome Program Research Consortium, Estivill X
Int J Mol Sci 2022 Mar 21;23(6) doi: 10.3390/ijms23063369. PMID: 35328790Free PMC Article
Yousaf R, Gu C, Ahmed ZM, Khan SN, Friedman TB, Riazuddin S, Shears SB, Riazuddin S
PLoS Genet 2018 Mar;14(3):e1007297. Epub 2018 Mar 28 doi: 10.1371/journal.pgen.1007297. PMID: 29590114Free PMC Article
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...