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Hearing loss, autosomal recessive 110(DFNB110)

MedGen UID:
1648377
Concept ID:
C4748162
Disease or Syndrome
Synonym: Deafness, autosomal recessive 110
 
Gene (location): COCH (14q12)
 
Monarch Initiative: MONDO:0054860
OMIM®: 618094

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

Al-Janabi AM, Ahmmed HS, Al-Khafaji SM
J Med Life 2021 Nov-Dec;14(6):841-846. doi: 10.25122/jml-2021-0152. PMID: 35126756Free PMC Article
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
Fiscaletti M, Biggin A, Bennetts B, Wong K, Briody J, Pacey V, Birman C, Munns CF
Bone 2018 May;110:66-75. Epub 2018 Jan 31 doi: 10.1016/j.bone.2018.01.031. PMID: 29382611
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301

Diagnosis

Fahimi H, Behroozi S, Noavar S, Parvini F
BMC Med Genomics 2021 Feb 2;14(1):37. doi: 10.1186/s12920-021-00884-4. PMID: 33530996Free PMC Article
Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H
J Med Genet 2015 Dec;52(12):823-9. Epub 2015 Oct 7 doi: 10.1136/jmedgenet-2015-103389. PMID: 26445815Free PMC Article
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Therapy

Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301

Prognosis

Tamplen M, Schwalje A, Lustig L, Alemi AS, Miller ME
Laryngoscope 2016 Jun;126(6):1440-5. Epub 2015 Sep 11 doi: 10.1002/lary.25659. PMID: 26360798
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
Am J Med Genet A 2015 Dec;167A(12):2957-65. Epub 2015 Sep 29 doi: 10.1002/ajmg.a.37274. PMID: 26416264Free PMC Article
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353
Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Mar;84(3):226-31. Epub 2005 Dec 31 doi: 10.1007/s00109-005-0015-3. PMID: 16389551Free PMC Article

Clinical prediction guides

Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ
Am J Med Genet A 2015 Dec;167A(12):2957-65. Epub 2015 Sep 29 doi: 10.1002/ajmg.a.37274. PMID: 26416264Free PMC Article
Pietola L, Aarnisalo AA, Abdel-Rahman A, Västinsalo H, Isosomppi J, Löppönen H, Kentala E, Johansson R, Valtonen H, Vasama JP, Sankila EM, Jero J
Otol Neurotol 2012 Jan;33(1):38-41. doi: 10.1097/MAO.0b013e31823dbc56. PMID: 22143301
Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Mar;84(3):226-31. Epub 2005 Dec 31 doi: 10.1007/s00109-005-0015-3. PMID: 16389551Free PMC Article
Abramowicz MJ, Albuquerque-Silva J, Zanen A
J Med Genet 2002 Feb;39(2):110-2. doi: 10.1136/jmg.39.2.110. PMID: 11836359Free PMC Article
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

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