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Hearing loss, autosomal recessive 113(DFNB113)

MedGen UID:
1674289
Concept ID:
C5193079
Disease or Syndrome
Synonym: Deafness, autosomal recessive 113
 
Gene (location): CEACAM16 (19q13.31-13.32)
 
Monarch Initiative: MONDO:0032732
OMIM®: 618410

Definition

DFNB113 is characterized by postlingual progressive hearing impairment (Booth et al., 2018). [from OMIM]

Clinical features

From HPO
Sensorineural hearing impairment
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.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Recent clinical studies

Etiology

Mey K, Muhamad AA, Tranebjaerg L, Rendtorff ND, Rasmussen SH, Bille M, Cayé-Thomasen P
Laryngoscope 2019 Nov;129(11):2574-2579. doi: 10.1002/lary.27319. PMID: 31633822
Noguchi Y, Fukuda S, Fukushima K, Gyo K, Hara A, Nakashima T, Ogawa K, Okamoto M, Sato H, Usami SI, Yamasoba T, Yokoyama T, Kitamura K
Auris Nasus Larynx 2017 Feb;44(1):33-39. Epub 2016 May 6 doi: 10.1016/j.anl.2016.04.012. PMID: 27160786
Cifuentes L, Arancibia M, Torrente M, Acuña M, Farfán C, Ríos C
Biol Res 2013;46(3):239-42. doi: 10.4067/S0716-97602013000300003. PMID: 24346070
Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K
Int J Pediatr Otorhinolaryngol 2011 Feb;75(2):211-4. Epub 2010 Nov 26 doi: 10.1016/j.ijporl.2010.11.001. PMID: 21112098
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

Diagnosis

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A
Int J Pediatr Otorhinolaryngol 2017 Oct;101:25-29. Epub 2017 Jul 21 doi: 10.1016/j.ijporl.2017.07.024. PMID: 28964305
Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S
Int J Pediatr Otorhinolaryngol 2017 Jun;97:113-126. Epub 2017 Apr 6 doi: 10.1016/j.ijporl.2017.04.007. PMID: 28483220
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

Prognosis

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Liu L, Yang B
Acta Neurol Belg 2013 Jun;113(2):157-60. Epub 2012 Oct 2 doi: 10.1007/s13760-012-0138-6. PMID: 23055113
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963

Clinical prediction guides

Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Sato A, Arimura T, Makita N, Ishikawa T, Aizawa Y, Ushinohama H, Aizawa Y, Kimura A
J Biol Chem 2009 Dec 11;284(50):35122-33. Epub 2009 Oct 13 doi: 10.1074/jbc.M109.017293. PMID: 19825999Free PMC Article
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

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