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Hearing loss, autosomal dominant 74(DFNA74)

MedGen UID:
1648467
Concept ID:
C4748334
Disease or Syndrome
Synonym: Deafness, autosomal dominant 74
 
Gene (location): PDE1C (7p14.3)
 
Monarch Initiative: MONDO:0029137
OMIM®: 618140

Definition

Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals (Wang 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

Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832
Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T
Laryngoscope 2017 Sep;127(9):E324-E329. Epub 2017 Mar 8 doi: 10.1002/lary.26528. PMID: 28271504
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181

Diagnosis

Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S
Int J Pediatr Otorhinolaryngol 2010 Dec;74(12):1441-4. Epub 2010 Oct 12 doi: 10.1016/j.ijporl.2010.09.006. PMID: 20943277
Biswas D, Stafford N
Int J Pediatr Otorhinolaryngol 2010 May;74(5):553-5. Epub 2010 Mar 17 doi: 10.1016/j.ijporl.2010.02.023. PMID: 20299111
Kunishima S, Matsushita T, Shiratsuchi M, Ikuta T, Nishimura J, Hamaguchi M, Naoe T, Saito H
Eur J Haematol 2005 Jan;74(1):1-5. doi: 10.1111/j.1600-0609.2004.00328.x. PMID: 15613099
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
Verhagen WI, Huygen PL, Padberg GW
Acta Otolaryngol Suppl 1995;520 Pt 1:140-2. doi: 10.3109/00016489509125212. PMID: 8749103

Therapy

Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW
Am J Med Genet A 2018 Jul;176(7):1648-1656. doi: 10.1002/ajmg.a.38832. PMID: 30160832

Prognosis

Banerji CRS, Cammish P, Evangelista T, Zammit PS, Straub V, Marini-Bettolo C
Neuromuscul Disord 2020 Apr;30(4):315-328. Epub 2020 Mar 12 doi: 10.1016/j.nmd.2020.03.001. PMID: 32327287
Yilmaz A
Cell Biochem Biophys 2015 Apr;71(3):1623-42. doi: 10.1007/s12013-014-0385-7. PMID: 25388846
Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C
Am J Otol 2000 Mar;21(2):181-7. doi: 10.1016/s0196-0709(00)80006-x. PMID: 10733181
Marres HA, Cremers CW, Huygen PL, Joosten FB
J Laryngol Otol 1994 Jan;108(1):13-8. doi: 10.1017/s002221510012571x. PMID: 8133157

Clinical prediction guides

Walsh S, Gösswein SS, Rump A, von der Hagen M, Hackmann K, Schröck E, Di Donato N, Kahlert AK
Eur J Med Genet 2020 Oct;63(10):104019. Epub 2020 Jul 23 doi: 10.1016/j.ejmg.2020.104019. PMID: 32712214
Yilmaz A
Cell Biochem Biophys 2015 Apr;71(3):1623-42. doi: 10.1007/s12013-014-0385-7. PMID: 25388846
Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y
J Hum Genet 2014 Sep;59(9):521-8. Epub 2014 Jul 31 doi: 10.1038/jhg.2014.65. PMID: 25078356
Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW
Otol Neurotol 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. PMID: 16151339

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