U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dynein arm defect of respiratory motile cilia

MedGen UID:
868591
Concept ID:
C4022990
Finding
HPO: HP:0012255

Definition

An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. [from HPO]

Conditions with this feature

Primary ciliary dyskinesia 17
MedGen UID:
762261
Concept ID:
C3542550
Disease or Syndrome
Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 28
MedGen UID:
816036
Concept ID:
C3809706
Disease or Syndrome
Primary ciliary dyskinesia-28 (CILD28) is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

Professional guidelines

PubMed

Wang R, Yang D, Tu C, Lei C, Ding S, Guo T, Wang L, Liu Y, Lu C, Yang B, Ouyang S, Gong K, Tan Z, Deng Y, Tan Y, Qing J, Luo H
Front Med 2023 Oct;17(5):957-971. Epub 2023 Jun 13 doi: 10.1007/s11684-023-0988-8. PMID: 37314648
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. PMID: 25493340Free PMC Article
Fliegauf M, Olbrich H, Horvath J, Wildhaber JH, Zariwala MA, Kennedy M, Knowles MR, Omran H
Am J Respir Crit Care Med 2005 Jun 15;171(12):1343-9. Epub 2005 Mar 4 doi: 10.1164/rccm.200411-1583OC. PMID: 15750039Free PMC Article

Recent clinical studies

Etiology

Al Adawi K, Baomar T, Al Riyami M, Al Shamli N, Al Shidhani K, Al Ansari A, Al Kindi H
Sultan Qaboos Univ Med J 2023 Feb;23(1):76-80. Epub 2023 Feb 23 doi: 10.18295/squmj.4.2022.029. PMID: 36865419Free PMC Article
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Shoemark A, Pinto AL, Patel MP, Daudvohra F, Hogg C, Mitchison HM, Burgoyne T
Am J Physiol Lung Cell Mol Physiol 2020 Dec 1;319(6):L1048-L1060. Epub 2020 Sep 30 doi: 10.1152/ajplung.00264.2020. PMID: 32996775
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Plesec TP, Ruiz A, McMahon JT, Prayson RA
Arch Pathol Lab Med 2008 Nov;132(11):1786-91. doi: 10.5858/132.11.1786. PMID: 18976016

Diagnosis

Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL
Genet Med 2022 Nov;24(11):2249-2261. Epub 2022 Sep 8 doi: 10.1016/j.gim.2022.07.019. PMID: 36074124Free PMC Article
Kurokawa A, Kondo M, Honda N, Orimo M, Miyoshi A, Kobayashi F, Abe K, Akaba T, Tsuji M, Arimura K, Nakatani K, Ikejiri M, Yagi O, Takeyama K, Katsura H, Takeuchi K, Tagaya E
Respir Investig 2022 May;60(3):407-417. Epub 2022 Mar 17 doi: 10.1016/j.resinv.2022.02.003. PMID: 35305968
Rezaei M, Soheili A, Ziai SA, Fakharian A, Toreyhi H, Pourabdollah M, Ghorbani J, Karimi-Galougahi M, Mahdaviani SA, Hasanzad M, Eslaminejad A, Ghaffaripour HA, Mahmoudian S, Rodafshani Z, Mirenayat MS, Varahram M, Marjani M, Tabarsi P, Mansouri D, Jamaati HR, Velayati AA
Sci Rep 2022 Feb 11;12(1):2375. doi: 10.1038/s41598-022-06370-w. PMID: 35149751Free PMC Article
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H
Am J Respir Cell Mol Biol 2016 Aug;55(2):213-24. doi: 10.1165/rcmb.2015-0353OC. PMID: 26909801Free PMC Article

Therapy

Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK
PLoS Genet 2020 Aug;16(8):e1008691. Epub 2020 Aug 7 doi: 10.1371/journal.pgen.1008691. PMID: 32764743Free PMC Article
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H
Am J Hum Genet 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025. PMID: 29727693Free PMC Article
Kido T, Yatera K, Yamasaki K, Nagata S, Choujin Y, Yamaga C, Hara K, Ishimoto H, Hisaoka M, Mukae H
Intern Med 2012;51(9):1093-8. Epub 2012 Apr 29 doi: 10.2169/internalmedicine.51.6617. PMID: 22576394
Plesec TP, Ruiz A, McMahon JT, Prayson RA
Arch Pathol Lab Med 2008 Nov;132(11):1786-91. doi: 10.5858/132.11.1786. PMID: 18976016

Prognosis

Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. PMID: 25493340Free PMC Article
Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM; UK10K, Mitchison HM
J Med Genet 2014 Jan;51(1):61-7. Epub 2013 Nov 7 doi: 10.1136/jmedgenet-2013-101938. PMID: 24203976Free PMC Article
Kido T, Yatera K, Yamasaki K, Nagata S, Choujin Y, Yamaga C, Hara K, Ishimoto H, Hisaoka M, Mukae H
Intern Med 2012;51(9):1093-8. Epub 2012 Apr 29 doi: 10.2169/internalmedicine.51.6617. PMID: 22576394

Clinical prediction guides

Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147Free PMC Article
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL
Genet Med 2022 Nov;24(11):2249-2261. Epub 2022 Sep 8 doi: 10.1016/j.gim.2022.07.019. PMID: 36074124Free PMC Article
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M
Am J Hum Genet 2018 Dec 6;103(6):995-1008. Epub 2018 Nov 21 doi: 10.1016/j.ajhg.2018.10.020. PMID: 30471718Free PMC Article
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. PMID: 25493340Free PMC Article

Recent systematic reviews

Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N
BMC Pulm Med 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4. PMID: 31345208Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...