U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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:
907698
•Concept ID:
C4082176
•
Finding
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
Show allHide all

Professional guidelines

PubMed

Inhaled delivery of a lipid nanoparticle encapsulated messenger RNA encoding a ciliary protein for the treatment of primary ciliary dyskinesia.
Woo CJ, Allawzi A, Clark N, Kaushal N, Efthymiou T, Thamsen M, Nguyen J, Wooster R, Sullivan JC
Pulm Pharmacol Ther 2022 Aug;75:102134. Epub 2022 May 22 doi: 10.1016/j.pupt.2022.102134. PMID: 35613658
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

Alexithymia in primary ciliary dyskinesia.
Çağlar HT, Pekcan S, Erden S, Ünal G, Yılmaz Aİ, Ercan F, Savaş S, Ayman FN, İstanbullu HA
Pediatr Pulmonol 2024 Oct;59(10):2457-2463. Epub 2024 May 2 doi: 10.1002/ppul.27038. PMID: 38695576
Primary ciliary dyskinesia.
Raidt J, Loges NT, Olbrich H, Wallmeier J, Pennekamp P, Omran H
Presse Med 2023 Sep;52(3):104171. Epub 2023 Jul 27 doi: 10.1016/j.lpm.2023.104171. PMID: 37516247
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
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

Diagnosis

Primary ciliary dyskinesia.
Raidt J, Loges NT, Olbrich H, Wallmeier J, Pennekamp P, Omran H
Presse Med 2023 Sep;52(3):104171. Epub 2023 Jul 27 doi: 10.1016/j.lpm.2023.104171. PMID: 37516247
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
Systemic and Odontogenic Etiologies in Chronic Rhinosinusitis.
Kuan EC, Suh JD
Otolaryngol Clin North Am 2017 Feb;50(1):95-111. doi: 10.1016/j.otc.2016.08.008. PMID: 27888918
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
Pregnancy and delivery in a patient with a Fontan circulation and primary ciliary dyskinesia: A case report.
Grandfils S, Dewandre PY, Bonnet P, Radermecker MA, Nisolle M, Kridelka F, Emonts P
J Gynecol Obstet Hum Reprod 2021 Nov;50(9):102184. Epub 2021 Jun 10 doi: 10.1016/j.jogoh.2021.102184. PMID: 34119700
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

Alexithymia in primary ciliary dyskinesia.
Çağlar HT, Pekcan S, Erden S, Ünal G, Yılmaz Aİ, Ercan F, Savaş S, Ayman FN, İstanbullu HA
Pediatr Pulmonol 2024 Oct;59(10):2457-2463. Epub 2024 May 2 doi: 10.1002/ppul.27038. PMID: 38695576
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

Clinical prediction guides

Ciliary Function, Antigen Stasis and Asthma.
Marozkina N
Int J Mol Sci 2024 Sep 18;25(18) doi: 10.3390/ijms251810043. PMID: 39337527Free PMC Article
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA, de Proce SM, Campos JL, Meynert A, Halachev M, Marsh JA, Hirst RA, O'Callaghan C, Shoemark A, Toddie-Moore D; Scottish Genomes Partnership, Santoyo-Lopez J, Murray J, Macleod K, Urquhart DS, Unger S, Aitman TJ, Mill P
Pediatr Pulmonol 2024 Dec;59(12):3322-3332. Epub 2024 Aug 8 doi: 10.1002/ppul.27200. PMID: 39115449Free PMC Article
Alexithymia in primary ciliary dyskinesia.
Çağlar HT, Pekcan S, Erden S, Ünal G, Yılmaz Aİ, Ercan F, Savaş S, Ayman FN, İstanbullu HA
Pediatr Pulmonol 2024 Oct;59(10):2457-2463. Epub 2024 May 2 doi: 10.1002/ppul.27038. PMID: 38695576
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 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

Natural history of otitis media with effusion-related hearing loss in children under 12 years: a systematic review.
Paing A, Elliff-O'Shea L, Day J, Holland Brown T, Arnold S, Royds J, Kennedy V
Arch Dis Child 2024 Dec 13;110(1):38-44. doi: 10.1136/archdischild-2024-327463. PMID: 39299718
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

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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...