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Ciliary dyskinesia, primary, 41(CILD41)

MedGen UID:
1680404
•Concept ID:
C5193103
•
Disease or Syndrome
Synonyms: CILD41; CILIARY DYSKINESIA, PRIMARY, 41
 
Gene (location): GAS2L2 (17q12)
 
Monarch Initiative: MONDO:0032757
OMIM®: 618449

Definition

Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis (Bustamante-Marin et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO
Infertility disorder
MedGen UID:
43876
•Concept ID:
C0021359
•
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
See: Feature record | Search on this feature
Immotile sperm
MedGen UID:
701339
•Concept ID:
C1278278
•
Finding
A lack of mobility of ejaculated sperm.
See: Feature record | Search on this feature
Bronchiectasis
MedGen UID:
14234
•Concept ID:
C0006267
•
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
See: Feature record | Search on this feature
Recurrent sinusitis
MedGen UID:
107919
•Concept ID:
C0581354
•
Disease or Syndrome
A recurrent form of sinusitis.
See: Feature record | Search on this feature
Impaired nasal mucociliary clearance
MedGen UID:
1640666
•Concept ID:
C4703436
•
Finding
An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.
Gatt D, Shaw M, Waters V, Kritzinger F, Solomon M, Dell S, Ratjen F
Pediatr Pulmonol 2023 Oct;58(10):2857-2864. Epub 2023 Jul 14 doi: 10.1002/ppul.26599. PMID: 37449771
Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.
Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF
JAMA Otolaryngol Head Neck Surg 2023 Jul 1;149(7):587-596. doi: 10.1001/jamaoto.2023.0841. PMID: 37166807Free PMC Article
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Recent clinical studies

Etiology

Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC).
Aliberti S, Ringshausen FC, Dhar R, Haworth CS, Loebinger MR, Dimakou K, Crichton ML, De Soyza A, Vendrell M, Burgel PR, McDonnell M, Skrgat S, Maiz Carro L, de Roux A, Sibila O, Bossios A, van der Eerden M, Kauppi P, Wilson R, Milenkovic B, Menendez R, Murris M, Borekci S, Munteanu O, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Goeminne PC, Elborn JS, Hill AT, Welte T, Blasi F, Polverino E, Chalmers JD; EMBARC Registry Investigators
Eur Respir J 2024 Apr;63(4) Epub 2024 Apr 18 doi: 10.1183/13993003.01554-2023. PMID: 38609095Free PMC Article
Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.
Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF
JAMA Otolaryngol Head Neck Surg 2023 Jul 1;149(7):587-596. doi: 10.1001/jamaoto.2023.0841. PMID: 37166807Free PMC Article
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.
Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I
Genes (Basel) 2023 Feb 21;14(3) doi: 10.3390/genes14030541. PMID: 36980814Free PMC Article
The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results.
Goutaki M, Eich MO, Halbeisen FS, Barben J, Casaulta C, Clarenbach C, Hafen G, Latzin P, Regamey N, Lazor R, Tschanz S, Zanolari M, Maurer E, Kuehni CE; Swiss PCD Registry (CH-PCD) Working Group
Swiss Med Wkly 2019 Jan 1;149 Epub 2019 Jan 13 doi: 10.57187/smw.2019.20004. PMID: 30691261
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
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

Diagnosis

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M
Hum Mutat 2020 Jan;41(1):115-121. Epub 2019 Sep 15 doi: 10.1002/humu.23905. PMID: 31469207
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
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
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
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
Application of laboratory and digital techniques for visual enhancement during the ultrastructural assessment of cilia.
Schroeder JA
Ultrastruct Pathol 2017 Nov-Dec;41(6):399-407. Epub 2017 Sep 11 doi: 10.1080/01913123.2017.1363335. PMID: 28891733
Diagnosis of primary ciliary dyskinesia.
Olm MA, Caldini EG, Mauad T
J Bras Pneumol 2015 May-Jun;41(3):251-63. doi: 10.1590/S1806-37132015000004447. PMID: 26176524Free PMC Article

Therapy

Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.
Gatt D, Shaw M, Waters V, Kritzinger F, Solomon M, Dell S, Ratjen F
Pediatr Pulmonol 2023 Oct;58(10):2857-2864. Epub 2023 Jul 14 doi: 10.1002/ppul.26599. PMID: 37449771
Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Moser CE, Quittner AL, Raidt J, Rosthøj S, Sørensen AL, Thomsen K, Werner C, Omran H, Nielsen KG
Lancet Respir Med 2020 May;8(5):493-505. doi: 10.1016/S2213-2600(20)30058-8. PMID: 32380069
The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results.
Goutaki M, Eich MO, Halbeisen FS, Barben J, Casaulta C, Clarenbach C, Hafen G, Latzin P, Regamey N, Lazor R, Tschanz S, Zanolari M, Maurer E, Kuehni CE; Swiss PCD Registry (CH-PCD) Working Group
Swiss Med Wkly 2019 Jan 1;149 Epub 2019 Jan 13 doi: 10.57187/smw.2019.20004. PMID: 30691261
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
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
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D, Bentur L, Avital A, Springer C, Lavie M, Prais D, Dabbah H, Elias N, Elizur A, Goldberg S, Hevroni A, Kerem E, Luder A, Roth Y, Cohen-Cymberknoh M, Ben Ami M, Mandelberg A, Livnat G, Picard E, Rivlin J, Rotschild M, Soferman R, Loges NT, Olbrich H, Werner C, Wolter A, Herting M, Wallmeier J, Raidt J, Omran H, Mussaffi H
Respir Med 2016 Oct;119:41-47. Epub 2016 Aug 23 doi: 10.1016/j.rmed.2016.08.015. PMID: 27692146

Prognosis

Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
Lu W, Li Y, Meng L, Tan C, Nie H, Zhang Q, Song Y, Zhang H, Tan YQ, Tu C, Guo H, Wu L, Du J
J Assist Reprod Genet 2024 Jun;41(6):1485-1498. Epub 2024 Apr 3 doi: 10.1007/s10815-024-03106-9. PMID: 38568462Free PMC Article
Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.
Gatt D, Shaw M, Waters V, Kritzinger F, Solomon M, Dell S, Ratjen F
Pediatr Pulmonol 2023 Oct;58(10):2857-2864. Epub 2023 Jul 14 doi: 10.1002/ppul.26599. PMID: 37449771
Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Moser CE, Quittner AL, Raidt J, Rosthøj S, Sørensen AL, Thomsen K, Werner C, Omran H, Nielsen KG
Lancet Respir Med 2020 May;8(5):493-505. doi: 10.1016/S2213-2600(20)30058-8. PMID: 32380069
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
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
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL
Ann Am Thorac Soc 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. PMID: 27464304Free PMC Article

Clinical prediction guides

Objective sputum colour assessment and clinical outcomes in bronchiectasis: data from the European Bronchiectasis Registry (EMBARC).
Aliberti S, Ringshausen FC, Dhar R, Haworth CS, Loebinger MR, Dimakou K, Crichton ML, De Soyza A, Vendrell M, Burgel PR, McDonnell M, Skrgat S, Maiz Carro L, de Roux A, Sibila O, Bossios A, van der Eerden M, Kauppi P, Wilson R, Milenkovic B, Menendez R, Murris M, Borekci S, Munteanu O, Obradovic D, Nowinski A, Amorim A, Torres A, Lorent N, Van Braeckel E, Altenburg J, Shoemark A, Shteinberg M, Boersma W, Goeminne PC, Elborn JS, Hill AT, Welte T, Blasi F, Polverino E, Chalmers JD; EMBARC Registry Investigators
Eur Respir J 2024 Apr;63(4) Epub 2024 Apr 18 doi: 10.1183/13993003.01554-2023. PMID: 38609095Free PMC Article
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
Lu W, Li Y, Meng L, Tan C, Nie H, Zhang Q, Song Y, Zhang H, Tan YQ, Tu C, Guo H, Wu L, Du J
J Assist Reprod Genet 2024 Jun;41(6):1485-1498. Epub 2024 Apr 3 doi: 10.1007/s10815-024-03106-9. PMID: 38568462Free PMC Article
Treatment response to pulmonary exacerbation in primary ciliary dyskinesia.
Gatt D, Shaw M, Waters V, Kritzinger F, Solomon M, Dell S, Ratjen F
Pediatr Pulmonol 2023 Oct;58(10):2857-2864. Epub 2023 Jul 14 doi: 10.1002/ppul.26599. PMID: 37449771
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.
Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I
Genes (Basel) 2023 Feb 21;14(3) doi: 10.3390/genes14030541. PMID: 36980814Free PMC Article
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
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

Recent systematic reviews

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
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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      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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