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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Primary ciliary dyskinesia


Other Names for this Disease

  • Ciliary dyskinesia primary
  • ICS
  • Immotile cilia syndrome
  • Polynesian bronchiectasis
  • Polynesian bronchiectasis
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Cause

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What causes primary ciliary dyskinesia?

Primary ciliary dyskinesia can result from mutations in at least nine different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps establish the left-right axis (the imaginary line that separates the left and right sides of the body) during embryonic development. Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. Mutations in the DNAI1 and DNAH5 genes account for up to 38 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.[1]

Click here to view a list of the genes associated with primary ciliary dyskinesia.
Last updated: 3/15/2011

References
  1. Primary ciliary dyskinesia. Genetics Home Reference (GHR). August 2010; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia. Accessed 7/12/2011.


Other Names for this Disease
  • Ciliary dyskinesia primary
  • ICS
  • Immotile cilia syndrome
  • Polynesian bronchiectasis
  • Polynesian bronchiectasis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.