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MeSH Review

Vestibular Aqueduct

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Disease relevance of Vestibular Aqueduct


High impact information on Vestibular Aqueduct

  • Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P [6].
  • Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients [7].
  • Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese [8].
  • Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been recorded in patients presenting with deafness and vestibular aqueduct dilatation only, without other features of Pendred syndrome [9].
  • Large vestibular aqueduct and congenital sensorineural hearing loss [10].

Biological context of Vestibular Aqueduct


Anatomical context of Vestibular Aqueduct


Associations of Vestibular Aqueduct with chemical compounds


Gene context of Vestibular Aqueduct

  • PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation [17].
  • OBJECTIVES:: The objectives of this study were to identify SIX1 gene mutations in a patient with branchio-oto syndrome (BO) and to clarify the relationship between SIX1 mutation and enlargement of the vestibular aqueduct (EVA) [18].
  • The histopathologic findings included severe Mondini dysplasia with unusual enlargement of the vestibular aqueducts and endolymphatic sacs [19].
  • Imaging case of the month. Large vestibular aqueduct syndrome [20].
  • RESULTS: An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case [21].


  1. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Usami, S., Abe, S., Weston, M.D., Shinkawa, H., Van Camp, G., Kimberling, W.J. Hum. Genet. (1999) [Pubmed]
  2. Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss. Shinjo, Y., Kaga, K., Igarashi, T. Acta Otolaryngol. (2005) [Pubmed]
  3. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. Kemperman, M.H., Stinckens, C., Kumar, S., Huygen, P.L., Joosten, F.B., Cremers, C.W. Otol. Neurotol. (2001) [Pubmed]
  4. Large vestibular aqueduct syndrome. Walsh, R.M., Ayshford, C.A., Chavda, S.V., Proops, D.W. ORL J. Otorhinolaryngol. Relat. Spec. (1999) [Pubmed]
  5. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Stinckens, C., Standaert, L., Casselman, J.W., Huygen, P.L., Kumar, S., Van de Wallen, J., Cremers, C.W. Int. J. Pediatr. Otorhinolaryngol. (2001) [Pubmed]
  6. Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. Napiontek, U., Borck, G., Müller-Forell, W., Pfarr, N., Bohnert, A., Keilmann, A., Pohlenz, J. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  7. Congenital sensorineural hearing loss. Mafee, M.F., Selis, J.E., Yannias, D.A., Valvassori, G.E., Pruzansky, S., Applebaum, E.L., Capek, V. Radiology. (1984) [Pubmed]
  8. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Tsukamoto, K., Suzuki, H., Harada, D., Namba, A., Abe, S., Usami, S. Eur. J. Hum. Genet. (2003) [Pubmed]
  9. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. Reardon, W., OMahoney, C.F., Trembath, R., Jan, H., Phelps, P.D. QJM : monthly journal of the Association of Physicians. (2000) [Pubmed]
  10. Large vestibular aqueduct and congenital sensorineural hearing loss. Mafee, M.F., Charletta, D., Kumar, A., Belmont, H. AJNR. American journal of neuroradiology. (1992) [Pubmed]
  11. Large vestibular aqueduct syndrome. Dipak, S., Prepageran, N., Sazila, A.S., Rahmat, O., Raman, R. Med. J. Malaysia (2005) [Pubmed]
  12. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Fugazzola, L., Cerutti, N., Mannavola, D., Crino, A., Cassio, A., Gasparoni, P., Vannucchi, G., Beck-Peccoz, P. Pediatr. Res. (2002) [Pubmed]
  13. Correlation of high resolution computed tomography and gross anatomic sections of the temporal bone. Part III. Cochlear and vestibular aqueducts. Cooper, M.H., Archer, C.R., Kveton, J.F. The American journal of otology. (1989) [Pubmed]
  14. Magnetic resonance imaging of the large vestibular aqueduct. Hirsch, B.E., Weissman, J.L., Curtin, H.D., Kamerer, D.B. Arch. Otolaryngol. Head Neck Surg. (1992) [Pubmed]
  15. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. Arcand, P., Desrosiers, M., Dubé, J., Abela, A. The Journal of otolaryngology. (1991) [Pubmed]
  16. Coronal computed tomography of the normal vestibular aqueduct in children and young adults. Murray, L.N., Tanaka, G.J., Cameron, D.S., Gianoli, G.J. Arch. Otolaryngol. Head Neck Surg. (2000) [Pubmed]
  17. Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. Namba, A., Abe, S., Shinkawa, H., Kimberling, W.J., Usami, S.I. J. Hum. Genet. (2001) [Pubmed]
  18. SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome. Ito, T., Noguchi, Y., Yashima, T., Kitamura, K. Laryngoscope (2006) [Pubmed]
  19. Massive endolymphatic sac and vestibular aqueduct in Mondini dysplasia. Sampaio, A.L., Cureoglu, S., Schachern, P.A., Kusunoki, T., Paparella, M.M., Oliveira, C.A. Arch. Otolaryngol. Head Neck Surg. (2004) [Pubmed]
  20. Imaging case of the month. Large vestibular aqueduct syndrome. Schroeder, A.A., Kuhn, J. The American journal of otology. (2000) [Pubmed]
  21. Etiologic diagnosis of sensorineural hearing loss in adults. Angeli, S.I., Yan, D., Telischi, F., Balkany, T.J., Ouyang, X.M., Du, L.L., Eshraghi, A., Goodwin, L., Liu, X.Z. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. (2005) [Pubmed]
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