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Primary ciliary dyskinesia 22(CILD22)

MedGen UID:
815873
Concept ID:
C3809543
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS
 
ZMYND10 (3p21.31)
 
Monarch Initiative: MONDO:0014192
OMIM®: 615444

Definition

Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Clinical features

From HPO

Term Hierarchy

Professional guidelines

PubMed

Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
Brennan SK, Ferkol TW, Davis SD
Int J Mol Sci 2021 Jul 31;22(15) doi: 10.3390/ijms22158272. PMID: 34361034Free PMC Article
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H
Am J Respir Crit Care Med 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20 doi: 10.1164/rccm.200601-084OC. PMID: 16627867Free PMC Article

Recent clinical studies

Etiology

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
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: 39201321Free PMC Article
Shteinberg M, Chalmers JD, Narayana JK, Dicker AJ, Rahat MA, Simanovitch E, Bidgood L, Cohen S, Stein N, Abo-Hilu N, Abbott J, Avital S, Fireman-Klein E, Richardson H, Muhammad E, Jrbashyan J, Schneer S, Nasrallah N, Eisenberg I, Chotirmall SH, Adir Y
Ann Am Thorac Soc 2024 May;21(5):748-758. doi: 10.1513/AnnalsATS.202306-551OC. PMID: 38194593
Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904
Piatti G, Ambrosetti U, Aldè M, Girotto G, Concas MP, Torretta S
Laryngoscope 2023 Feb;133(2):248-254. Epub 2022 Mar 21 doi: 10.1002/lary.30112. PMID: 35312075Free PMC Article

Diagnosis

Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904
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
Staar BO, Hegermann J, Auber B, Ewen R, von Hardenberg S, Olmer R, Pink I, Rademacher J, Wetzke M, Ringshausen FC
Cells 2023 Nov 18;12(22) doi: 10.3390/cells12222651. PMID: 37998386Free PMC Article
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
Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article

Therapy

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
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
Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
Paff T, Omran H, Nielsen KG, Haarman EG
Int J Mol Sci 2021 Sep 11;22(18) doi: 10.3390/ijms22189834. PMID: 34575997Free PMC Article
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H
Am J Respir Crit Care Med 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20 doi: 10.1164/rccm.200601-084OC. PMID: 16627867Free PMC Article

Prognosis

Shteinberg M, Chalmers JD, Narayana JK, Dicker AJ, Rahat MA, Simanovitch E, Bidgood L, Cohen S, Stein N, Abo-Hilu N, Abbott J, Avital S, Fireman-Klein E, Richardson H, Muhammad E, Jrbashyan J, Schneer S, Nasrallah N, Eisenberg I, Chotirmall SH, Adir Y
Ann Am Thorac Soc 2024 May;21(5):748-758. doi: 10.1513/AnnalsATS.202306-551OC. PMID: 38194593
Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904
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
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
Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH
Otolaryngol Head Neck Surg 2019 Nov;161(5):877-880. Epub 2019 Sep 10 doi: 10.1177/0194599819874842. PMID: 31500503

Clinical prediction guides

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
Shteinberg M, Chalmers JD, Narayana JK, Dicker AJ, Rahat MA, Simanovitch E, Bidgood L, Cohen S, Stein N, Abo-Hilu N, Abbott J, Avital S, Fireman-Klein E, Richardson H, Muhammad E, Jrbashyan J, Schneer S, Nasrallah N, Eisenberg I, Chotirmall SH, Adir Y
Ann Am Thorac Soc 2024 May;21(5):748-758. doi: 10.1513/AnnalsATS.202306-551OC. PMID: 38194593
Gut G, Bar-Yoseph R, Hanna M, Brandl N, Alisha I, Rizik S, Pollak M, Hakim F, Amirav I, Bentur L, Gur M
Pediatr Pulmonol 2024 Mar;59(3):688-694. Epub 2023 Dec 20 doi: 10.1002/ppul.26814. PMID: 38116904
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
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H
Am J Respir Crit Care Med 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20 doi: 10.1164/rccm.200601-084OC. PMID: 16627867Free PMC Article

Recent systematic reviews

Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ
Orphanet J Rare Dis 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. PMID: 35854386Free PMC Article
Collins SA, Gove K, Walker W, Lucas JS
Eur Respir J 2014 Dec;44(6):1589-99. Epub 2014 Oct 16 doi: 10.1183/09031936.00088614. PMID: 25323224

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