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Hearing loss, autosomal dominant 73(DFNA73)

MedGen UID:
1627153
Concept ID:
C4540024
Disease or Syndrome
Synonym: Deafness, autosomal dominant 73
 
Gene (location): PTPRQ (12q21.31)
 
Monarch Initiative: MONDO:0033260
OMIM®: 617663

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.

Recent clinical studies

Etiology

Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A
Audiol Neurootol 2008;13(1):1-6. Epub 2007 Aug 22 doi: 10.1159/000107431. PMID: 17715463

Diagnosis

Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Yang T, Guo L, Wang L, Yu X
Adv Exp Med Biol 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. PMID: 30915702
Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A
Audiol Neurootol 2008;13(1):1-6. Epub 2007 Aug 22 doi: 10.1159/000107431. PMID: 17715463
Bitner-Glindzicz M
Br Med Bull 2002;63:73-94. doi: 10.1093/bmb/63.1.73. PMID: 12324385

Therapy

Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Bitner-Glindzicz M
Br Med Bull 2002;63:73-94. doi: 10.1093/bmb/63.1.73. PMID: 12324385

Prognosis

Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Yang T, Guo L, Wang L, Yu X
Adv Exp Med Biol 2019;1130:73-92. doi: 10.1007/978-981-13-6123-4_5. PMID: 30915702
Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ
Clin Genet 2008 Apr;73(4):367-72. Epub 2008 Feb 13 doi: 10.1111/j.1399-0004.2008.00966.x. PMID: 18279434
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article
Bitner-Glindzicz M
Br Med Bull 2002;63:73-94. doi: 10.1093/bmb/63.1.73. PMID: 12324385

Clinical prediction guides

Li Q, Zhao Z, Wu B, Pang Q, Cui L, Zhang L, Jiang Y, Wang O, Li M, Xing X, Hu Y, Yu W, Meng X, Jiajue R, Xia W
J Bone Miner Res 2022 Jan;37(1):78-86. Epub 2021 Sep 28 doi: 10.1002/jbmr.4436. PMID: 34490910
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA
Hum Mutat 2011 Jul;32(7):825-34. Epub 2011 Jun 7 doi: 10.1002/humu.21512. PMID: 21520338Free PMC Article
Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ
Clin Genet 2008 Apr;73(4):367-72. Epub 2008 Feb 13 doi: 10.1111/j.1399-0004.2008.00966.x. PMID: 18279434
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article

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