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Ciliary dyskinesia, primary, 52(CILD52)

MedGen UID:
1051170
Concept ID:
CN375806
Disease or Syndrome
Synonyms: CILD52; CILIARY DYSKINESIA, PRIMARY, 52, WITH OR WITHOUT SITUS INVERSUS
 
Gene (location): DAW1 (2q36.3)
 
Monarch Initiative: MONDO:0957922
OMIM®: 620570

Definition

Primary ciliary dyskinesia-52 (CILD52) is an autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects (summary by Leslie et al., 2022). [from OMIM]

Professional guidelines

PubMed

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
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
Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM
J Med Genet 2020 May;57(5):322-330. Epub 2019 Dec 25 doi: 10.1136/jmedgenet-2019-106501. PMID: 31879361

Recent clinical studies

Etiology

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
Marro M, Leiva-Juárez MM, D'Ovidio F, Chan J, Van Raemdonck D, Ceulemans LJ, Moreno P, Kindelan AA, Krueger T, Koutsokera A, Ehrsam JP, Inci I, Yazicioglu A, Yekeler E, Boffini M, Brioude G, Thomas PA, Pizanis N, Aigner C, Schiavon M, Rea F, Anile M, Venuta F, Keshavjee S
Transpl Int 2023;36:10819. Epub 2023 Feb 14 doi: 10.3389/ti.2023.10819. PMID: 36865666Free PMC Article
Demir Eksi D, Yilmaz E, Basaran AE, Erduran G, Nur B, Mihci E, Karadag B, Bingol A, Alper OM
Indian J Pediatr 2022 Jul;89(7):682-691. Epub 2022 Mar 3 doi: 10.1007/s12098-022-04098-z. PMID: 35239159
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
Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, Casaulta C, Jurca M, Spycher BD, Kuehni CE
Eur Respir J 2016 Oct;48(4):1081-1095. Epub 2016 Aug 4 doi: 10.1183/13993003.00736-2016. PMID: 27492829

Diagnosis

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
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
Piatti G, De Santi MM, Torretta S, Pignataro L, Soi D, Ambrosetti U
Ann Otol Rhinol Laryngol 2017 Apr;126(4):322-327. Epub 2017 Feb 12 doi: 10.1177/0003489417691299. PMID: 28290230
Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, Casaulta C, Jurca M, Spycher BD, Kuehni CE
Eur Respir J 2016 Oct;48(4):1081-1095. Epub 2016 Aug 4 doi: 10.1183/13993003.00736-2016. PMID: 27492829
Kurkowiak M, Ziętkiewicz E, Witt M
J Med Genet 2015 Jan;52(1):1-9. Epub 2014 Oct 28 doi: 10.1136/jmedgenet-2014-102755. PMID: 25351953Free PMC Article

Therapy

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
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
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M
Pediatr Pulmonol 2017 Apr;52(4):487-493. Epub 2016 Dec 28 doi: 10.1002/ppul.23607. PMID: 28029746Free PMC Article
Boon M, Vermeulen FL, Gysemans W, Proesmans M, Jorissen M, De Boeck K
Thorax 2015 Apr;70(4):339-45. Epub 2015 Feb 11 doi: 10.1136/thoraxjnl-2014-206578. PMID: 25673230
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

Pedersen ESL, Schreck LD, Goutaki M, Bellu S, Copeland F, Lucas JS, Zwahlen M, Kuehni CE
Int J Public Health 2023;68:1605561. Epub 2023 Aug 17 doi: 10.3389/ijph.2023.1605561. PMID: 37663372Free PMC Article
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
Çağdaş D, Pehlivantürk Kizılkan M, Tagiyev A, Emiralioğlu N, Keleş A, Yalçın E, Doğru D, Özçelik U, Kiper N, Tezcan İ
Eur Ann Allergy Clin Immunol 2020 Nov;52(6):271-276. Epub 2020 Nov 3 doi: 10.23822/EurAnnACI.1764-1489.151. PMID: 32372587
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
Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, Hogg C, Casaulta C, Crowley S, Haarman EG, Karadag B, Koerner-Rettberg C, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Lucas JS, Latzin P, Kuehni CE
Eur Respir J 2018 Aug;52(2) Epub 2018 Aug 23 doi: 10.1183/13993003.01040-2018. PMID: 30049738

Clinical prediction guides

Pedersen ESL, Schreck LD, Goutaki M, Bellu S, Copeland F, Lucas JS, Zwahlen M, Kuehni CE
Int J Public Health 2023;68:1605561. Epub 2023 Aug 17 doi: 10.3389/ijph.2023.1605561. PMID: 37663372Free PMC Article
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
Lyu H, Guo Z, Chen C, Duan B, Xu Z, Chen W
Acta Otolaryngol 2022 Sep-Dec;142(9-12):691-695. Epub 2022 Sep 10 doi: 10.1080/00016489.2022.2118371. PMID: 36093609
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
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
Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, Casaulta C, Jurca M, Spycher BD, Kuehni CE
Eur Respir J 2016 Oct;48(4):1081-1095. Epub 2016 Aug 4 doi: 10.1183/13993003.00736-2016. PMID: 27492829

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