U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal respiratory motile cilium physiology

MedGen UID:
868585
Concept ID:
C4022984
Pathologic Function
HPO: HP:0012261

Definition

Any functional anomaly of the respiratory motile cilia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal respiratory motile cilium physiology

Professional guidelines

PubMed

Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Lobo J, Zariwala MA, Noone PG
Semin Respir Crit Care Med 2015 Apr;36(2):169-79. Epub 2015 Mar 31 doi: 10.1055/s-0035-1546748. PMID: 25826585Free PMC Article
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656

Recent clinical studies

Etiology

Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
Lucas JS, Davis SD, Omran H, Shoemark A
Lancet Respir Med 2020 Feb;8(2):202-216. Epub 2019 Oct 14 doi: 10.1016/S2213-2600(19)30374-1. PMID: 31624012
Harrison MJ, Shapiro AJ, Kennedy MP
Paediatr Respir Rev 2016 Mar;18:25-32. Epub 2015 Sep 26 doi: 10.1016/j.prrv.2015.09.003. PMID: 26545972
Dhar DK, Ganguly KC, Alam S, Hossain A, Sarker UK, Das BK, Haque MJ
Mymensingh Med J 2009 Jan;18(1):75-9. PMID: 19182755
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Diagnosis

Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium, Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:, Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM
Eur Respir J 2022 Nov;60(5) Epub 2022 Nov 17 doi: 10.1183/13993003.00176-2022. PMID: 35728977
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Legendre M, Zaragosi LE, Mitchison HM
Semin Cell Dev Biol 2021 Feb;110:19-33. Epub 2020 Dec 2 doi: 10.1016/j.semcdb.2020.11.007. PMID: 33279404
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H
Nat Rev Dis Primers 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623
Lucas JS, Davis SD, Omran H, Shoemark A
Lancet Respir Med 2020 Feb;8(2):202-216. Epub 2019 Oct 14 doi: 10.1016/S2213-2600(19)30374-1. PMID: 31624012

Therapy

Paff T, Omran H, Nielsen KG, Haarman EG
Int J Mol Sci 2021 Sep 11;22(18) doi: 10.3390/ijms22189834. PMID: 34575997Free PMC Article
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Knowles MR, Zariwala M, Leigh M
Clin Chest Med 2016 Sep;37(3):449-61. Epub 2016 Jun 30 doi: 10.1016/j.ccm.2016.04.008. PMID: 27514592Free PMC Article
Lobo J, Zariwala MA, Noone PG
Semin Respir Crit Care Med 2015 Apr;36(2):169-79. Epub 2015 Mar 31 doi: 10.1055/s-0035-1546748. PMID: 25826585Free PMC Article
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656

Prognosis

Walton T, Gui M, Velkova S, Fassad MR, Hirst RA, Haarman E, O'Callaghan C, Bottier M, Burgoyne T, Mitchison HM, Brown A
Nature 2023 Jun;618(7965):625-633. Epub 2023 May 31 doi: 10.1038/s41586-023-06140-2. PMID: 37258679Free PMC Article
Legendre M, Zaragosi LE, Mitchison HM
Semin Cell Dev Biol 2021 Feb;110:19-33. Epub 2020 Dec 2 doi: 10.1016/j.semcdb.2020.11.007. PMID: 33279404
Honoré I, Burgel PR
Rev Mal Respir 2016 Feb;33(2):165-89. Epub 2015 Dec 1 doi: 10.1016/j.rmr.2015.10.743. PMID: 26654126
Lobo J, Zariwala MA, Noone PG
Semin Respir Crit Care Med 2015 Apr;36(2):169-79. Epub 2015 Mar 31 doi: 10.1055/s-0035-1546748. PMID: 25826585Free PMC Article
Hagiwara H, Ohwada N, Aoki T, Takata K
Med Electron Microsc 2000;33(3):109-14. doi: 10.1007/s007950000009. PMID: 11810467

Clinical prediction guides

Walton T, Gui M, Velkova S, Fassad MR, Hirst RA, Haarman E, O'Callaghan C, Bottier M, Burgoyne T, Mitchison HM, Brown A
Nature 2023 Jun;618(7965):625-633. Epub 2023 May 31 doi: 10.1038/s41586-023-06140-2. PMID: 37258679Free 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
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium, Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:, Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM
Eur Respir J 2022 Nov;60(5) Epub 2022 Nov 17 doi: 10.1183/13993003.00176-2022. PMID: 35728977
Kim E, Mathai SK, Stancil IT, Ma X, Hernandez-Gutierrez A, Becerra JN, Marrero-Torres E, Hennessy CE, Hatakka K, Wartchow EP, Estrella A, Huber JP, Cardwell JH, Burnham EL, Zhang Y, Evans CM, Vladar EK, Schwartz DA, Dobrinskikh E, Yang IV
Am J Respir Cell Mol Biol 2022 Aug;67(2):188-200. doi: 10.1165/rcmb.2021-0554OC. PMID: 35608953Free PMC Article

Recent systematic reviews

Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
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...