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Autosomal recessive nonsyndromic hearing loss 2(DFNB2; NSRD2)

MedGen UID:
325485
Concept ID:
C1838701
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 2; DFNB 2 Nonsyndromic Hearing Loss and Deafness; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
 
Gene (location): MYO7A (11q13.5)
 
Monarch Initiative: MONDO:0010807
OMIM®: 600060

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. [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.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR
Clin Chem 2018 Feb;64(2):336-345. Epub 2017 Nov 2 doi: 10.1373/clinchem.2017.278101. PMID: 29097507
Mahdieh N, Shirkavand A, Raeisi M, Akbari MT, Tekin M, Zeinali S
Biochem Biophys Res Commun 2010 Nov 12;402(2):305-7. Epub 2010 Oct 19 doi: 10.1016/j.bbrc.2010.10.021. PMID: 20937258
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

Therapy

García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, Foster J 2nd, Cengiz FB, Blanton S, Tekin M
Genet Test Mol Biomarkers 2014 Sep;18(9):658-61. Epub 2014 Jul 25 doi: 10.1089/gtmb.2014.0121. PMID: 25062256Free PMC Article

Prognosis

Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW
Mol Biol Rep 2020 Dec;47(12):9979-9985. Epub 2020 Dec 2 doi: 10.1007/s11033-020-06037-7. PMID: 33269433
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
Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H
PLoS One 2015;10(8):e0136306. Epub 2015 Aug 26 doi: 10.1371/journal.pone.0136306. PMID: 26308726Free PMC Article

Clinical prediction guides

Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Choi HJ, Kanwal S, Hameed R, Tamanna N, Perveen S, Mahreen H, Son W, Lee KS, Chung KW
Genes Genomics 2023 Feb;45(2):145-156. Epub 2022 Dec 6 doi: 10.1007/s13258-022-01349-3. PMID: 36472766
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M
Proc Natl Acad Sci U S A 2022 Jun 28;119(26):e2204084119. Epub 2022 Jun 21 doi: 10.1073/pnas.2204084119. PMID: 35727972Free PMC Article
Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW
Mol Biol Rep 2020 Dec;47(12):9979-9985. Epub 2020 Dec 2 doi: 10.1007/s11033-020-06037-7. PMID: 33269433
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article

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