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Functional abnormality of the inner ear

MedGen UID:
868968
•Concept ID:
C4023382
•
Finding
HPO: HP:0011389

Definition

An abnormality of the function of the inner ear. [from HPO]

Professional guidelines

PubMed

Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S
Asia Pac J Ophthalmol (Phila) 2022 Jul-Aug 01;11(4):369-379. Epub 2022 Aug 17 doi: 10.1097/APO.0000000000000546. PMID: 36041150
The vestibular implant: Opinion statement on implantation criteria for research.
van de Berg R, Ramos A, van Rompaey V, Bisdorff A, Perez-Fornos A, Rubinstein JT, Phillips JO, Strupp M, Della Santina CC, Guinand N
J Vestib Res 2020;30(3):213-223. doi: 10.3233/VES-200701. PMID: 32651339Free PMC Article
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457

Recent clinical studies

Etiology

Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease.
Bakhos D, Blasco H, Galvin JJ 3rd, Ferreira CR, Blau N
Mol Genet Metab 2022 Nov;137(3):223-229. Epub 2022 Sep 23 doi: 10.1016/j.ymgme.2022.09.005. PMID: 36183456Free PMC Article
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253

Diagnosis

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S, El-Amraoui A
Hum Genet 2022 Apr;141(3-4):709-735. Epub 2022 Mar 30 doi: 10.1007/s00439-022-02448-7. PMID: 35353227Free PMC Article
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Genetic hearing impairment.
Ječmenica J, Bajec-Opančina A, Ječmenica D
Childs Nerv Syst 2015 Apr;31(4):515-9. Epub 2015 Feb 17 doi: 10.1007/s00381-015-2628-3. PMID: 25686889
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P
PLoS One 2014;9(11):e108134. Epub 2014 Nov 5 doi: 10.1371/journal.pone.0108134. PMID: 25372295Free PMC Article

Therapy

Orthostatic Hypertension: Critical Appraisal of an Overlooked Condition.
Jordan J, Ricci F, Hoffmann F, Hamrefors V, Fedorowski A
Hypertension 2020 May;75(5):1151-1158. Epub 2020 Mar 30 doi: 10.1161/HYPERTENSIONAHA.120.14340. PMID: 32223382
Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms.
Liberman MC, Kujawa SG
Hear Res 2017 Jun;349:138-147. Epub 2017 Jan 10 doi: 10.1016/j.heares.2017.01.003. PMID: 28087419Free PMC Article
Meniere's disease.
Nakashima T, Pyykkö I, Arroll MA, Casselbrant ML, Foster CA, Manzoor NF, Megerian CA, Naganawa S, Young YH
Nat Rev Dis Primers 2016 May 12;2:16028. doi: 10.1038/nrdp.2016.28. PMID: 27170253
Osteogenesis imperfecta.
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585
Perilymph fistulas.
Althaus SR
Laryngoscope 1981 Apr;91(4):538-62. doi: 10.1288/00005537-198104000-00007. PMID: 7012493

Prognosis

Bilateral vestibulopathy: the causes, diagnosis, and treatments.
Kim JS, Kim HJ
Curr Opin Neurol 2022 Feb 1;35(1):98-106. doi: 10.1097/WCO.0000000000001014. PMID: 34879018
Otopathologic Abnormalities in CHARGE Syndrome.
da Costa Monsanto R, Knoll RM, de Oliveira Penido N, Song G, Santos F, Paparella MM, Cureoglu S
Otolaryngol Head Neck Surg 2022 Feb;166(2):363-372. Epub 2021 Apr 20 doi: 10.1177/01945998211008911. PMID: 33874787
Inner-ear malformations as a cause of single-sided deafness.
Tahir E, Bajin MD, Jafarov S, Yıldırım MÖ, Çınar BÇ, Sennaroğlu G, Sennaroğlu L
J Laryngol Otol 2020 Jun;134(6):509-518. Epub 2020 Jun 8 doi: 10.1017/S0022215120001036. PMID: 32508296
Orthostatic Hypertension: Critical Appraisal of an Overlooked Condition.
Jordan J, Ricci F, Hoffmann F, Hamrefors V, Fedorowski A
Hypertension 2020 May;75(5):1151-1158. Epub 2020 Mar 30 doi: 10.1161/HYPERTENSIONAHA.120.14340. PMID: 32223382
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J
Clin Genet 2019 Jan;95(1):63-78. Epub 2018 Jul 8 doi: 10.1111/cge.13374. PMID: 29722015

Clinical prediction guides

Vestibular syncope.
Choi JY, Lee ES, Kim JS
Curr Opin Neurol 2024 Feb 1;37(1):66-73. Epub 2023 Oct 19 doi: 10.1097/WCO.0000000000001226. PMID: 38193502
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Classification and Current Management of Inner Ear Malformations.
Sennaroğlu L, Bajin MD
Balkan Med J 2017 Sep 29;34(5):397-411. Epub 2017 Aug 25 doi: 10.4274/balkanmedj.2017.0367. PMID: 28840850Free PMC Article
Pendred syndrome.
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509
Perilymphatic fistulas.
Martinez MT, Gianoli GJ
J La State Med Soc 1994 Feb;146(2):43-6. PMID: 8195664

Recent systematic reviews

Surgical Management of Endolymphatic Sac Tumor: A Systematic Review and Meta-Analysis.
Gioacchini FM, Chiarella G, Kaleci S, Iannella G, Viola P, Pisani D, Scarpa A, Tulli M, Re M
J Int Adv Otol 2023 Jun;19(3):248-254. doi: 10.5152/iao.2023.22957. PMID: 37272644Free PMC Article
Systematic Review on Vestibular Symptoms in Patients With Enlarged Vestibular Aqueducts.
Stahl MC, Otteson T
Laryngoscope 2022 Apr;132(4):873-880. Epub 2021 Aug 16 doi: 10.1002/lary.29819. PMID: 34397103
Dysfunction of the Auditory System in Children With Hypothyroidism: A Systematic Review and Meta-Analysis.
Zhang K, Fried J, Nguyen SA, Meyer TA, White DR
Ear Hear 2022 Jan/Feb;43(1):23-31. doi: 10.1097/AUD.0000000000001082. PMID: 34282088
Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings.
Farhood Z, Nguyen SA, Miller SC, Holcomb MA, Meyer TA, Rizk HG
Otolaryngol Head Neck Surg 2017 May;156(5):783-793. Epub 2017 Apr 4 doi: 10.1177/0194599817696502. PMID: 28374626
Current understanding of the pathogenesis of autoimmune inner ear disease: a review.
Goodall AF, Siddiq MA
Clin Otolaryngol 2015 Oct;40(5):412-9. doi: 10.1111/coa.12432. PMID: 25847404

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