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Immotile cilia syndrome due to defective radial spokes

MedGen UID:
137933
Concept ID:
C0340035
Disease or Syndrome
Synonyms: Cilia with defective radial spokes; CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES
SNOMED CT: Immotile cilia syndrome due to defective radial spokes (233664005)
 
Monarch Initiative: MONDO:0009449
OMIM®: 242670

Clinical features

From HPO
Immotile sperm
MedGen UID:
701339
Concept ID:
C1278278
Finding
A lack of mobility of ejaculated sperm.
Primary ciliary dyskinesia
MedGen UID:
3467
Concept ID:
C0008780
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\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\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.
Abnormal respiratory system physiology
MedGen UID:
220360
Concept ID:
C1260922
Finding
When you''re short of breath, it''s hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you''re not getting enough air. Sometimes you can have mild breathing problems because of a stuffy nose or intense exercise. But shortness of breath can also be a sign of a serious disease.CHAR(13) Many conditions can make you feel short of breath:CHAR(13) -Lung conditions such as asthma, emphysema, or pneumonia. CHAR(13) -Problems with your trachea or bronchi, which are part of your airway system. CHAR(13) -Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. CHAR(13) -Anxiety and panic attacks. CHAR(13) -Allergies. CHAR(13) If you often have trouble breathing, it is important to find out the cause.CHAR(13)
Immotile cilia
MedGen UID:
383738
Concept ID:
C1855672
Finding
Absent respiratory ciliary axoneme radial spokes
MedGen UID:
868582
Concept ID:
C4022981
Finding
Absence of the radial spokes of the axoneme of the respiratory cilium.
Sinusitis
MedGen UID:
20772
Concept ID:
C0037199
Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Chronic rhinitis
MedGen UID:
3086
Concept ID:
C0008711
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Anatomical Abnormality
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.

Professional guidelines

PubMed

Cho EH, Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, Ki CS
Clin Genet 2020 Jul;98(1):64-68. Epub 2020 Mar 25 doi: 10.1111/cge.13742. PMID: 32185794

Recent clinical studies

Etiology

Geremek M, Ziętkiewicz E, Bruinenberg M, Franke L, Pogorzelski A, Wijmenga C, Witt M
PLoS One 2014;9(2):e88216. Epub 2014 Feb 6 doi: 10.1371/journal.pone.0088216. PMID: 24516614Free PMC Article
Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M
PLoS One 2012;7(3):e33667. Epub 2012 Mar 20 doi: 10.1371/journal.pone.0033667. PMID: 22448264Free PMC Article
Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium
Thorax 2012 May;67(5):433-41. Epub 2011 Dec 18 doi: 10.1136/thoraxjnl-2011-200301. PMID: 22184204Free PMC Article
Plesec TP, Ruiz A, McMahon JT, Prayson RA
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Veerman AJ, van Delden L, Feenstra L, Leene W
Pediatrics 1980 Apr;65(4):698-702. PMID: 6966048

Diagnosis

De Jesús-Rojas W, Meléndez-Montañez J, Muñiz-Hernández J, Marra-Nazario A, Alvarado-Huerta F, Santos-López A, Ramos-Benitez MJ, Mosquera RA
Int J Mol Sci 2023 Jan 18;24(3) doi: 10.3390/ijms24031936. PMID: 36768259Free PMC Article
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M
Am J Hum Genet 2015 Jul 2;97(1):153-62. Epub 2015 Jun 11 doi: 10.1016/j.ajhg.2015.05.004. PMID: 26073779Free PMC Article
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free PMC Article
Lin J, Yin W, Smith MC, Song K, Leigh MW, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D
Nat Commun 2014 Dec 4;5:5727. doi: 10.1038/ncomms6727. PMID: 25473808Free PMC Article
Cowan MJ, Gladwin MT, Shelhamer JH
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Therapy

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free PMC Article
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM
Hum Mol Genet 2014 Jul 1;23(13):3362-74. Epub 2014 Feb 11 doi: 10.1093/hmg/ddu046. PMID: 24518672Free PMC Article
Sturgess JM, Thompson MW, Czegledy-Nagy E, Turner JA
Am J Med Genet 1986 Sep;25(1):149-60. doi: 10.1002/ajmg.1320250117. PMID: 3492145
Corkey CW, Minta JO, Turner JA, Biggar WD
J Lab Clin Med 1982 Jun;99(6):838-44. PMID: 6210738
Veerman AJ, van Delden L, Feenstra L, Leene W
Pediatrics 1980 Apr;65(4):698-702. PMID: 6966048

Prognosis

Geremek M, Ziętkiewicz E, Bruinenberg M, Franke L, Pogorzelski A, Wijmenga C, Witt M
PLoS One 2014;9(2):e88216. Epub 2014 Feb 6 doi: 10.1371/journal.pone.0088216. PMID: 24516614Free PMC Article
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
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J Allergy Clin Immunol 2003 Sep;112(3):518-24. doi: 10.1016/s0091-6749(03)01799-8. PMID: 13679810Free PMC Article

Clinical prediction guides

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
Yoke H, Ueno H, Narita A, Sakai T, Horiuchi K, Shingyoji C, Hamada H, Shinohara K
PLoS Genet 2020 Mar;16(3):e1008664. Epub 2020 Mar 23 doi: 10.1371/journal.pgen.1008664. PMID: 32203505Free PMC Article
Geremek M, Ziętkiewicz E, Bruinenberg M, Franke L, Pogorzelski A, Wijmenga C, Witt M
PLoS One 2014;9(2):e88216. Epub 2014 Feb 6 doi: 10.1371/journal.pone.0088216. PMID: 24516614Free PMC Article
Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M
PLoS One 2012;7(3):e33667. Epub 2012 Mar 20 doi: 10.1371/journal.pone.0033667. PMID: 22448264Free PMC Article
Burns MW
Med J Aust 1979 Sep 22;2(6):287-8. doi: 10.5694/j.1326-5377.1979.tb125711.x. PMID: 316498

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