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Abnormal respiratory motile cilium morphology

MedGen UID:
870646
Concept ID:
C4025100
Anatomical Abnormality
HPO: HP:0005938

Definition

Abnormal arrangement of the structures of the motile cilium. [from HPO]

Conditions with this feature

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
MedGen UID:
384046
Concept ID:
C1857052
Disease or Syndrome
A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.
Primary ciliary dyskinesia 6
MedGen UID:
370930
Concept ID:
C1970506
Disease or Syndrome
Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nPrimary 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.
Ciliary dyskinesia with transposition of ciliary microtubules
MedGen UID:
388736
Concept ID:
C2673817
Disease or Syndrome
Primary ciliary dyskinesia 10
MedGen UID:
382707
Concept ID:
C2675867
Disease or Syndrome
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.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.

Professional guidelines

PubMed

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
Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK
Arch Dis Child 2014 Sep;99(9):850-6. Epub 2014 Apr 25 doi: 10.1136/archdischild-2013-304831. PMID: 24771309Free 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

Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
Horani A, Brody SL, Ferkol TW
Pediatr Res 2014 Jan;75(1-2):158-64. Epub 2013 Nov 5 doi: 10.1038/pr.2013.200. PMID: 24192704Free PMC Article
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
Bush A, Cole P, Hariri M, Mackay I, Phillips G, O'Callaghan C, Wilson R, Warner JO
Eur Respir J 1998 Oct;12(4):982-8. doi: 10.1183/09031936.98.12040982. PMID: 9817179

Diagnosis

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
Lobo LJ, Zariwala MA, Noone PG
QJM 2014 Sep;107(9):691-9. Epub 2014 Mar 19 doi: 10.1093/qjmed/hcu063. PMID: 24652656
Bush A
Acta Otorhinolaryngol Belg 2000;54(3):317-24. PMID: 11082768

Therapy

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
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
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

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
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
Zhao Y, Pinskey J, Lin J, Yin W, Sears PR, Daniels LA, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D
Mol Biol Cell 2021 Jun 1;32(12):1202-1209. Epub 2021 Apr 14 doi: 10.1091/mbc.E20-12-0806. PMID: 33852348Free 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

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