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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tylosis with esophageal cancer


Other Names for this Disease

  • Howel-Evans syndrome
  • Keratosis palmaris et plantaris with esophageal cancer
  • Keratosis palmoplantaris with esophageal cancer
  • TOC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

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What causes Tylosis with esophageal cancer?

Mutations in the RHBDF2 gene have been shown to cause the development of this condition. [1][2][3]
Last updated: 1/18/2013

References
  1. Tylosis with esophageal cancer. OMIM Database. July 10, 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148500. Accessed 4/6/2010.
  2. Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA.. Fam Cancer. 2012 Sep;11; http://www.ncbi.nlm.nih.gov/pubmed/22638770. Accessed 1/18/2013.
  3. Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP.. Am J Hum Genet. 2012 Feb 10; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276661/. Accessed 1/18/2013.


Other Names for this Disease
  • Howel-Evans syndrome
  • Keratosis palmaris et plantaris with esophageal cancer
  • Keratosis palmoplantaris with esophageal cancer
  • TOC
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.