Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Peter Tang + 771 word(s) 771 2020-12-30 02:35:06

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Tang, P. Primary Ciliary Dyskinesia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5979 (accessed on 18 September 2026).
Tang P. Primary Ciliary Dyskinesia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5979. Accessed September 18, 2026.
Tang, Peter. "Primary Ciliary Dyskinesia" Encyclopedia, https://encyclopedia.pub/entry/5979 (accessed September 18, 2026).
Tang, P. (2021, January 04). Primary Ciliary Dyskinesia. In Encyclopedia. https://encyclopedia.pub/entry/5979
Tang, Peter. "Primary Ciliary Dyskinesia." Encyclopedia. Web. 04 January, 2021.
Primary Ciliary Dyskinesia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.

genetic conditions

References

  1. Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi:10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review. Citation on PubMed
  2. Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de SantiMM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. Mutations inDNAH5 account for only 15% of a non-preselected cohort of patients with primaryciliary dyskinesia. J Med Genet. 2009 Apr;46(4):281-6. doi:10.1136/jmg.2008.061176. Citation on PubMed
  3. Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de SantiMM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 mutationsexplain only 2% of primary ciliary dykinesia. Respiration. 2008;76(2):198-204.doi: 10.1159/000128567. Epub 2008 Apr 23. Citation on PubMed
  4. Horani A, Brody SL, Ferkol TW. Picking up speed: advances in the genetics ofprimary ciliary dyskinesia. Pediatr Res. 2014 Jan;75(1-2):158-64. doi:10.1038/pr.2013.200. Epub 2013 Nov 5. Review. Citation on PubMed or Free article on PubMed Central
  5. Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, WildhaberJ, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T,Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. DNAH5mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20. Citation on PubMed or Free article on PubMed Central
  6. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV,Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG,Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defectsin a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007 Jun 5;115(22):2814-21. Epub 2007 May 21. Citation on PubMed
  7. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR,Zariwala MA. Clinical and genetic aspects of primary ciliarydyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi:10.1097/GIM.0b013e3181a53562. Review. Citation on PubMed or Free article on PubMed Central
  8. Morillas HN, Zariwala M, Knowles MR. Genetic causes of bronchiectasis: primaryciliary dyskinesia. Respiration. 2007;74(3):252-63. Review. Citation on PubMed
  9. Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD,Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, KnowlesMR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Lateralitydefects other than situs inversus totalis in primary ciliary dyskinesia: insightsinto situs ambiguus and heterotaxy. Chest. 2014 Nov;146(5):1176-1186. doi:10.1378/chest.13-1704. Citation on PubMed or Free article on PubMed Central
  10. Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy andsitus inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17.doi: 10.1002/ajmg.c.30228. Review. Citation on PubMed
  11. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. 2007 Jan 24[updated 2019 Dec 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1122/ Citation on PubMed
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
View Times: 911
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 04 Jan 2021
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback