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Inherited auditory system disease

MedGen UID:
707712
•Concept ID:
C1285174
•
Disease or Syndrome
Synonyms: Auditory system hereditary disorder; auditory system hereditary disorder; hereditary auditory system disease; inherited auditory system disease
SNOMED CT: Auditory system hereditary disorder (362991006)
 
Monarch Initiative: MONDO:0037940

Definition

An instance of auditory system disease that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Auditory neuropathy: from etiology to management.
Huang Y, Yang J, Duan M
Curr Opin Otolaryngol Head Neck Surg 2022 Oct 1;30(5):332-338. Epub 2022 Jul 18 doi: 10.1097/MOO.0000000000000829. PMID: 35939320
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, Hu YJ, Hu JH, Thompson DB, Shu Y, Li Y, Wang H, Yang S, Xu Q, Polley DB, Liberman MC, Kong WJ, Holt JR, Chen ZY, Liu DR
Nature 2018 Jan 11;553(7687):217-221. Epub 2017 Dec 20 doi: 10.1038/nature25164. PMID: 29258297Free PMC Article
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.
Hendriksz CJ, Al-Jawad M, Berger KI, Hawley SM, Lawrence R, Mc Ardle C, Summers CG, Wright E, Braunlin E
J Inherit Metab Dis 2013 Mar;36(2):309-22. Epub 2012 Feb 23 doi: 10.1007/s10545-012-9459-0. PMID: 22358740Free PMC Article

Recent clinical studies

Etiology

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Attarian S, Beloribi-Djefaflia S, Bernard R, Nguyen K, Cances C, Gavazza C, Echaniz-Laguna A, Espil C, Evangelista T, Feasson L, Audic F, Zagorda B, Milhe De Bovis V, Stojkovic T, Sole G, Salort-Campana E, Sacconi S
J Neurol 2024 Sep;271(9):5778-5803. Epub 2024 Jul 2 doi: 10.1007/s00415-024-12538-3. PMID: 38955828
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
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U
Clin Cancer Res 2017 Jun 15;23(12):e54-e61. doi: 10.1158/1078-0432.CCR-17-0590. PMID: 28620005
Unique medical issues in adult patients with mucopolysaccharidoses.
Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K
Eur J Intern Med 2016 Oct;34:2-10. Epub 2016 Jun 11 doi: 10.1016/j.ejim.2016.05.017. PMID: 27296591
Myoclonus and mitochondrial myopathy.
Hopkins LC, Rosing HS
Adv Neurol 1986;43:105-17. PMID: 3080847

Diagnosis

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Attarian S, Beloribi-Djefaflia S, Bernard R, Nguyen K, Cances C, Gavazza C, Echaniz-Laguna A, Espil C, Evangelista T, Feasson L, Audic F, Zagorda B, Milhe De Bovis V, Stojkovic T, Sole G, Salort-Campana E, Sacconi S
J Neurol 2024 Sep;271(9):5778-5803. Epub 2024 Jul 2 doi: 10.1007/s00415-024-12538-3. PMID: 38955828
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
The Pathology of the Vestibular System in CANVAS.
Ishai R, Seyyedi M, Chancellor AM, McLean CA, Rodriguez ML, Halmagyi GM, Nadol JB Jr, Szmulewicz DJ, Quesnel AM
Otol Neurotol 2021 Mar 1;42(3):e332-e340. doi: 10.1097/MAO.0000000000002985. PMID: 33492056Free PMC Article
Auditory function in Pelizaeus-Merzbacher disease.
Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM
J Neurol 2018 Jul;265(7):1580-1589. Epub 2018 May 3 doi: 10.1007/s00415-018-8884-x. PMID: 29725841
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U
Clin Cancer Res 2017 Jun 15;23(12):e54-e61. doi: 10.1158/1078-0432.CCR-17-0590. PMID: 28620005

Therapy

Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial.
Woodley DT, Hao M, Kwong A, Levian B, Cogan J, Hou Y, Mosallaei D, Kleinman E, Zheng K, Chung C, Kim G, Peng D, Chen M
Br J Dermatol 2024 Jul 16;191(2):267-274. doi: 10.1093/bjd/ljae063. PMID: 38366625Free PMC Article
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, Hu YJ, Hu JH, Thompson DB, Shu Y, Li Y, Wang H, Yang S, Xu Q, Polley DB, Liberman MC, Kong WJ, Holt JR, Chen ZY, Liu DR
Nature 2018 Jan 11;553(7687):217-221. Epub 2017 Dec 20 doi: 10.1038/nature25164. PMID: 29258297Free PMC Article
Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese population.
Zhang K, Zhao Y, Wang Q, Jiang H, Du J, Yu S, Zhao M
Neurosci Lett 2016 May 27;622:37-44. Epub 2016 Apr 11 doi: 10.1016/j.neulet.2016.04.019. PMID: 27080428
Hearing loss in Pompe disease revisited: results from a study of 24 children.
van Capelle CI, Goedegebure A, Homans NC, Hoeve HL, Reuser AJ, van der Ploeg AT
J Inherit Metab Dis 2010 Oct;33(5):597-602. Epub 2010 Jul 2 doi: 10.1007/s10545-010-9144-0. PMID: 20596893Free PMC Article
The effects of hypoxia, premature birth, infection, ototoxic drugs, circulatory system and congenital disease on neonatal hearing loss.
Yoshikawa S, Ikeda K, Kudo T, Kobayashi T
Auris Nasus Larynx 2004 Dec;31(4):361-8. doi: 10.1016/j.anl.2004.07.007. PMID: 15571908

Prognosis

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U
Clin Cancer Res 2017 Jun 15;23(12):e54-e61. doi: 10.1158/1078-0432.CCR-17-0590. PMID: 28620005
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169
Familial dilated cardiomyopathy. Clinical and genetic characteristics.
Serio A, Narula N, Kodama T, Favalli V, Arbustini E
Herz 2012 Dec;37(8):822-9. doi: 10.1007/s00059-012-3707-9. PMID: 23223770
Hearing profile and MRI myelination of auditory pathway in Pelizaeus-Merzbacher disease.
Kuan CC, Sano M, Kaga K, Kodama M, Kodama K
Acta Otolaryngol 2008 May;128(5):539-46. doi: 10.1080/00016480701258713. PMID: 18421608
GATA3 haplo-insufficiency causes human HDR syndrome.
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K
Nature 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. PMID: 10935639

Clinical prediction guides

The Pathology of the Vestibular System in CANVAS.
Ishai R, Seyyedi M, Chancellor AM, McLean CA, Rodriguez ML, Halmagyi GM, Nadol JB Jr, Szmulewicz DJ, Quesnel AM
Otol Neurotol 2021 Mar 1;42(3):e332-e340. doi: 10.1097/MAO.0000000000002985. PMID: 33492056Free PMC Article
Auditory function in Pelizaeus-Merzbacher disease.
Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM
J Neurol 2018 Jul;265(7):1580-1589. Epub 2018 May 3 doi: 10.1007/s00415-018-8884-x. PMID: 29725841
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
Gao X, Tao Y, Lamas V, Huang M, Yeh WH, Pan B, Hu YJ, Hu JH, Thompson DB, Shu Y, Li Y, Wang H, Yang S, Xu Q, Polley DB, Liberman MC, Kong WJ, Holt JR, Chen ZY, Liu DR
Nature 2018 Jan 11;553(7687):217-221. Epub 2017 Dec 20 doi: 10.1038/nature25164. PMID: 29258297Free PMC Article
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U
Clin Cancer Res 2017 Jun 15;23(12):e54-e61. doi: 10.1158/1078-0432.CCR-17-0590. PMID: 28620005
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169

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