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Ciliary dyskinesia, primary, 50(CILD50)

MedGen UID:
1841109
•Concept ID:
C5830473
•
Disease or Syndrome
Synonym: CILD50
 
Gene (location): DNAH7 (2q32.3)
 
Monarch Initiative: MONDO:0957252
OMIM®: 620356

Definition

Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
See: Feature record | Search on this feature
Reduced sperm motility
MedGen UID:
98339
•Concept ID:
C0403823
•
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature
Short sperm flagella
MedGen UID:
1623693
•Concept ID:
C4539787
•
Finding
Sperm cells with abnormally short flagella.
See: Feature record | Search on this feature
Coiled sperm flagella
MedGen UID:
1611216
•Concept ID:
C4539789
•
Finding
Sperm cells whose flagella are twisted (coiled).
See: Feature record | Search on this feature
Reduced progressive sperm motility
MedGen UID:
1730031
•Concept ID:
C5436680
•
Finding
A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.
See: Feature record | Search on this feature
Chronic bronchitis
MedGen UID:
3084
•Concept ID:
C0008677
•
Disease or Syndrome
Chronic inflammation of the bronchi.
See: Feature record | Search on this feature
Absent inner dynein arms
MedGen UID:
868589
•Concept ID:
C4022988
•
Finding
Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
See: Feature record | Search on this feature
Chronic sinusitis
MedGen UID:
101751
•Concept ID:
C0149516
•
Disease or Syndrome
A chronic form of sinusitis.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
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
Clinical phenotypes of primary ciliary dyskinesia.
Lei C, Wang R, Yang D, Guo T, Luo H
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Jan 28;47(1):116-122. doi: 10.11817/j.issn.1672-7347.2022.210379. PMID: 35545371Free PMC Article
Clinical care of children with primary ciliary dyskinesia.
Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT
Expert Rev Respir Med 2017 Oct;11(10):779-790. Epub 2017 Aug 2 doi: 10.1080/17476348.2017.1360770. PMID: 28745925

Recent clinical studies

Etiology

Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
Oh J, Lee JS, Park MS, Kang YA, Cho HJ, Kim SY, Jung J, Yoon SO, Kim KW
Yonsei Med J 2024 Jan;65(1):48-54. doi: 10.3349/ymj.2023.0238. PMID: 38154480Free 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 the genomics age.
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
Clinical care of children with primary ciliary dyskinesia.
Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT
Expert Rev Respir Med 2017 Oct;11(10):779-790. Epub 2017 Aug 2 doi: 10.1080/17476348.2017.1360770. PMID: 28745925
Primary ciliary dyskinesia: diagnosis and standards of care.
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

The RSPH4A Gene in Primary Ciliary Dyskinesia.
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
Motile cilia and airway disease.
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
Primary ciliary dyskinesia in the genomics age.
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
Primary Ciliary Dyskinesia.
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
Primary ciliary dyskinesia.
Bush A
Acta Otorhinolaryngol Belg 2000;54(3):317-24. PMID: 11082768

Therapy

Primary ciliary dyskinesia: A multicenter survey on clinical practice and patient management in Italy.
Ullmann N, Santamaria F, Allegorico A, Fainardi V, Borrelli M, Ferraro VA, Proietti E, Parisi GF, Romagnoli V, Lucca F, Gallucci M, Mappa L, Lelli M, Amato D, Petrarca L, Cimino G, Sacco O, Calogero C, Patria MF, Acquafredda A, Ferlisi A, Maschio M, Kantar A, Cutrera R
Pediatr Pulmonol 2023 Apr;58(4):1127-1135. Epub 2023 Jan 9 doi: 10.1002/ppul.26303. PMID: 36588099
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
Clinical care of children with primary ciliary dyskinesia.
Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT
Expert Rev Respir Med 2017 Oct;11(10):779-790. Epub 2017 Aug 2 doi: 10.1080/17476348.2017.1360770. PMID: 28745925
Primary Ciliary Dyskinesia.
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
Primary ciliary dyskinesia, an orphan disease.
Boon M, Jorissen M, Proesmans M, De Boeck K
Eur J Pediatr 2013 Feb;172(2):151-62. Epub 2012 Jul 10 doi: 10.1007/s00431-012-1785-6. PMID: 22777640

Prognosis

Role of Nasal Nitric Oxide in Primary Ciliary Dyskinesia and Other Respiratory Conditions in Children.
Paternò S, Pisani L, Zanconato S, Ferraro VA, Carraro S
Int J Mol Sci 2023 Nov 10;24(22) doi: 10.3390/ijms242216159. PMID: 38003348Free PMC Article
Motile cilia and airway disease.
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
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
Clinical care of children with primary ciliary dyskinesia.
Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT
Expert Rev Respir Med 2017 Oct;11(10):779-790. Epub 2017 Aug 2 doi: 10.1080/17476348.2017.1360770. PMID: 28745925
Primary ciliary dyskinesia: diagnosis and standards of care.
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

Clinical prediction guides

PCD Genes-From Patients to Model Organisms and Back to Humans.
Niziolek M, Bicka M, Osinka A, Samsel Z, Sekretarska J, Poprzeczko M, Bazan R, Fabczak H, Joachimiak E, Wloga D
Int J Mol Sci 2022 Feb 3;23(3) doi: 10.3390/ijms23031749. PMID: 35163666Free PMC Article
Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia.
Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M, Abo M, Kondo M, Gotoh S, Kubo H, Hosoki K, Nagao M, Fujisawa T, Nakatani K, Takeuchi K
Auris Nasus Larynx 2022 Apr;49(2):248-257. Epub 2021 Aug 26 doi: 10.1016/j.anl.2021.08.003. PMID: 34454779
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L
J Pediatr 2020 Oct;225:157-165.e5. Epub 2020 Jun 2 doi: 10.1016/j.jpeds.2020.05.052. PMID: 32502479
Toward an Earlier Diagnosis of Primary Ciliary Dyskinesia. Which Patients Should Undergo Detailed Diagnostic Testing?
Kuehni CE, Lucas JS
Ann Am Thorac Soc 2016 Aug;13(8):1239-43. doi: 10.1513/AnnalsATS.201605-331PS. PMID: 27258773
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA
Genet Med 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. PMID: 19606528Free PMC Article

Recent systematic reviews

An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.
Hasanain AA, Soliman MAR, Elwy R, Ezzat AAM, Abdel-Bari SH, Marx S, Jenkins A, El Refaee E, Zohdi A
Br J Neurosurg 2022 Jun;36(3):329-339. Epub 2022 May 17 doi: 10.1080/02688697.2022.2074373. PMID: 35579079
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review.
Møller ME, Alanin MC, Grønhøj C, Aanæs K, Høiby N, von Buchwald C
Am J Rhinol Allergy 2017 Sep 1;31(5):293-298. doi: 10.2500/ajra.2017.31.4461. PMID: 28859703Free PMC Article

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