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Hearing loss, autosomal dominant 77(DFNA77)

MedGen UID:
1709284
Concept ID:
C5394499
Disease or Syndrome
Synonym: Deafness, autosomal dominant 77
 
Gene (location): ABCC1 (16p13.11)
 
Monarch Initiative: MONDO:0030058
OMIM®: 618915

Definition

Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades (Li et al., 2019). [from OMIM]

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.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Abnormal inner ear morphology
MedGen UID:
868967
Concept ID:
C4023381
Anatomical Abnormality
A structural anomaly of the internal part of the ear.

Professional guidelines

PubMed

Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE
Genes (Basel) 2023 Feb 10;14(2) doi: 10.3390/genes14020457. PMID: 36833385Free PMC Article
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Recent clinical studies

Etiology

Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X
Clin Genet 2019 Oct;96(4):290-299. Epub 2019 Jul 10 doi: 10.1111/cge.13588. PMID: 31219622
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M
Pediatr Pulmonol 2017 Apr;52(4):487-493. Epub 2016 Dec 28 doi: 10.1002/ppul.23607. PMID: 28029746Free PMC Article
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281
Ozturk O, Silan F, Oghan F, Egeli E, Belli S, Tokmak A, Egeli A, Harputluoglu U, Onder HI, Zafer C
Int J Pediatr Otorhinolaryngol 2005 Mar;69(3):367-73. Epub 2004 Dec 21 doi: 10.1016/j.ijporl.2004.11.001. PMID: 15733596

Diagnosis

Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE
Genes (Basel) 2023 Feb 10;14(2) doi: 10.3390/genes14020457. PMID: 36833385Free PMC Article
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X
Clin Genet 2019 Oct;96(4):290-299. Epub 2019 Jul 10 doi: 10.1111/cge.13588. PMID: 31219622
Bahmad F, O'Malley J, Tranebjaerg L, Merchant SN
Otol Neurotol 2008 Aug;29(5):601-6. doi: 10.1097/MAO.0b013e3181778245. PMID: 18665028Free PMC Article
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Therapy

Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M
Pediatr Pulmonol 2017 Apr;52(4):487-493. Epub 2016 Dec 28 doi: 10.1002/ppul.23607. PMID: 28029746Free PMC Article
Gonçalves AC, Chora J, Matos TD, Santos R, O'Neill A, Escada P, Fialho G, Caria H
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):89-91. Epub 2012 Nov 8 doi: 10.1016/j.ijporl.2012.10.002. PMID: 23141775

Prognosis

Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
Hum Genet 2022 Apr;141(3-4):431-444. Epub 2022 Mar 12 doi: 10.1007/s00439-022-02444-x. PMID: 35278131Free PMC Article
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article

Clinical prediction guides

Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE
Genes (Basel) 2023 Feb 10;14(2) doi: 10.3390/genes14020457. PMID: 36833385Free PMC Article
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL
Hum Genet 2022 Apr;141(3-4):431-444. Epub 2022 Mar 12 doi: 10.1007/s00439-022-02444-x. PMID: 35278131Free PMC Article
Huang AE, Adkins WJ, Patel NS
Otol Neurotol 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. PMID: 31834875
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ
Brain 2015 Apr;138(Pt 4):845-61. Epub 2015 Feb 11 doi: 10.1093/brain/awv010. PMID: 25678562Free PMC Article
Bönsch D, Scheer P, Neumann C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T
Eur J Hum Genet 2001 Mar;9(3):165-70. doi: 10.1038/sj.ejhg.5200612. PMID: 11313754

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