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Primary ciliary dyskinesia 35(CILD35)

MedGen UID:: 934688
•Concept ID:: C4310721
•: Disease or Syndrome

Synonym:	CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS

Gene (location): Gene(s) directly associated with this condition or phenotype.	ODAD4 (17q21.2)

Monarch Initiative:	MONDO:0014910
OMIM®:	617092

Definition

Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO

Situs inversus

MedGen UID:: 1642262
•Concept ID:: C4551493
•: Congenital Abnormality

A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.

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Abdominal situs ambiguus

MedGen UID:: 1622585
•Concept ID:: C4531036
•: Anatomical Abnormality

An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.

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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.

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Productive cough

MedGen UID:: 66781
•Concept ID:: C0239134
•: Finding

A cough that produces phlegm or mucus.

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Recurrent pneumonia

MedGen UID:: 195802
•Concept ID:: C0694550
•: Disease or Syndrome

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

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Decreased nasal nitric oxide

MedGen UID:: 767344
•Concept ID:: C3554430
•: Finding

Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.

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Neonatal respiratory distress

MedGen UID:: 924182
•Concept ID:: C4281993
•: Finding

Respiratory difficulty as newborn.

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Chronic sinusitis

MedGen UID:: 101751
•Concept ID:: C0149516
•: Disease or Syndrome

A chronic form of sinusitis.

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Chronic otitis media

MedGen UID:: 75751
•Concept ID:: C0271441
•: Disease or Syndrome

Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.

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Chronic rhinitis

MedGen UID:: 3086
•Concept ID:: C0008711
•: Disease or Syndrome

Chronic inflammation of the nasal mucosa.

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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.

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Show all Hide all

Abnormality of head or neck
- Chronic rhinitis
- Nasal polyposis
Abnormality of the cardiovascular system
- Situs inversus
Abnormality of the immune system
- Chronic otitis media
- Chronic sinusitis
Abnormality of the respiratory system
Growth abnormality
- Abdominal situs ambiguus

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPrimary ciliary dyskinesia

Phenotypic abnormality
- Abnormality of the respiratory system
  - Abnormal respiratory system physiology
    - Abnormal respiratory motile cilium physiology
      - Abnormal ciliary motility
        Primary ciliary dyskinesia
        Primary ciliary dyskinesia 35

Professional guidelines

PubMed

TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia.

Piatti G, Girotto G, Concas MP, Braga L, Ambrosetti U, Aldè M
Int J Mol Sci 2024 Aug 8;25(16) doi: 10.3390/ijms25168635. PMID: 39201321 Free PMC Article

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.

Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C
Am J Respir Crit Care Med 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. PMID: 28199173 Free PMC Article

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium, Hall DA, Dell SD, Kim RH
G3 (Bethesda) 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851. PMID: 26139845 Free PMC Article

See all (7)

Recent clinical studies

Etiology

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.

Günaydın RÖ, Eroğlu E, Tellioğlu B, Emiralioğlu N, Özçelik HU, Yalçın E, Doğru D, Kiper EN
Int J Pediatr Otorhinolaryngol 2023 May;168:111520. Epub 2023 Mar 22 doi: 10.1016/j.ijporl.2023.111520. PMID: 36990030

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.

Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147 Free PMC Article

Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation.

Bos S, Daniëls L, Michaux L, Vanden Bempt I, Vermeer S, Woei-A-Jin FJSH, Schöffski P, Weynand B, Sciot R, Declercq S, Ceulemans LJ, Godinas L, Verleden GM, Van Raemdonck DE, Dupont LJ, Vos R; Leuven Lung Transplant Group
Front Immunol 2021;12:789851. Epub 2022 Jan 3 doi: 10.3389/fimmu.2021.789851. PMID: 35046948 Free PMC Article

Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort.

Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ
Am J Rhinol Allergy 2021 Jan;35(1):72-76. Epub 2020 Jun 19 doi: 10.1177/1945892420933175. PMID: 32551925 Free PMC Article

Genetic, chromosomal, and syndromic causes of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, Khalil MI, Al-Mardawi E, Salih MA
Saudi Med J 2014 Dec;35 Suppl 1(Suppl 1):S49-56. PMID: 25551112 Free PMC Article

See all (43)

Diagnosis

Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

Khurana S, Saini V, Wadhwa V, Kaur H
J Ultrasound 2017 Jun;20(2):167-170. Epub 2017 Jan 4 doi: 10.1007/s40477-016-0231-4. PMID: 28593008 Free PMC Article

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC
PLoS One 2017;12(2):e0170843. Epub 2017 Feb 2 doi: 10.1371/journal.pone.0170843. PMID: 28152038 Free PMC Article

Genetic, chromosomal, and syndromic causes of neural tube defects.

Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS, Khalil MI, Al-Mardawi E, Salih MA
Saudi Med J 2014 Dec;35 Suppl 1(Suppl 1):S49-56. PMID: 25551112 Free PMC Article

Kartagener syndrome.

Casanova MS, Tuji FM, Yoo HJ, Haiter-Neto F
Dentomaxillofac Radiol 2006 Sep;35(5):386-9. doi: 10.1259/dmfr/58545230. PMID: 16940490

Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome.

Palmblad J, Mossberg B, Afzelius BA
Annu Rev Med 1984;35:481-92. doi: 10.1146/annurev.me.35.020184.002405. PMID: 6372667

See all (56)

Therapy

Inhaled colistimethate sodium in patients with bronchiectasis and Pseudomonas aeruginosa infection: results of PROMIS-I and PROMIS-II, two randomised, double-blind, placebo-controlled phase 3 trials assessing safety and efficacy over 12 months.

Haworth CS, Shteinberg M, Winthrop K, Barker A, Blasi F, Dimakou K, Morgan LC, O'Donnell AE, Ringshausen FC, Sibila O, Thomson RM, Carroll KJ, Pontenani F, Castellani P, Chalmers JD; PROMIS trial investigators
Lancet Respir Med 2024 Oct;12(10):787-798. Epub 2024 Sep 10 doi: 10.1016/S2213-2600(24)00225-X. PMID: 39270696

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.

Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team
Lancet Respir Med 2024 Jan;12(1):21-33. Epub 2023 Aug 31 doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715

Intermittent prophylactic antibiotics for bronchiectasis.

Spencer S, Donovan T, Chalmers JD, Mathioudakis AG, McDonnell MJ, Tsang A, Leadbetter P
Cochrane Database Syst Rev 2022 Jan 5;1(1):CD013254. doi: 10.1002/14651858.CD013254.pub2. PMID: 34985761 Free PMC Article

Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation.

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

See all (17)

Prognosis

Case Report: An Unusual Course of Angiosarcoma After Lung Transplantation.

Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

Khurana S, Saini V, Wadhwa V, Kaur H
J Ultrasound 2017 Jun;20(2):167-170. Epub 2017 Jan 4 doi: 10.1007/s40477-016-0231-4. PMID: 28593008 Free PMC Article

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome.

Palmblad J, Mossberg B, Afzelius BA
Annu Rev Med 1984;35:481-92. doi: 10.1146/annurev.me.35.020184.002405. PMID: 6372667

See all (23)