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Ciliary dyskinesia, primary, 53(CILD53)

MedGen UID:
1050078
Concept ID:
CN375856
Disease or Syndrome
Synonym: CILD53
 
Gene (location): CLXN (8q11.21)
 
Monarch Initiative: MONDO:0957991
OMIM®: 620642

Definition

Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023). [from OMIM]

Professional guidelines

PubMed

Schreck LD, Goutaki M, Jörger P, Dexter K, Manion M, Christin-Maitre S, Maitre B; COVID-PCD Patient Advisory Group, Kuehni CE, Pedersen ESL
Pediatr Pulmonol 2024 Feb;59(2):281-290. Epub 2023 Nov 7 doi: 10.1002/ppul.26743. PMID: 37933800
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
Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U
Pediatr Pulmonol 2020 Feb;55(2):383-393. Epub 2019 Nov 25 doi: 10.1002/ppul.24583. PMID: 31765523

Recent clinical studies

Etiology

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
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
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: 32551925Free PMC Article
Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U
Pediatr Pulmonol 2020 Feb;55(2):383-393. Epub 2019 Nov 25 doi: 10.1002/ppul.24583. PMID: 31765523
Şişmanlar Eyüboğlu T, Aslan AT, Ceylan A, Soysal AŞ, Budakoğlu Iİ, Ulukavak Çiftçi T, Köktürk O
Pediatr Pulmonol 2018 Oct;53(10):1436-1441. Epub 2018 Jul 10 doi: 10.1002/ppul.24133. PMID: 29992786

Diagnosis

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
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
Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M, Moreno-Galdó A
Arch Bronconeumol (Engl Ed) 2021 Mar;57(3):186-194. Epub 2020 Apr 3 doi: 10.1016/j.arbres.2020.02.010. PMID: 32253119
Şişmanlar Eyüboğlu T, Aslan AT, Ceylan A, Soysal AŞ, Budakoğlu Iİ, Ulukavak Çiftçi T, Köktürk O
Pediatr Pulmonol 2018 Oct;53(10):1436-1441. Epub 2018 Jul 10 doi: 10.1002/ppul.24133. PMID: 29992786
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free PMC Article

Therapy

Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD
Ann Am Thorac Soc 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736Free PMC Article
Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H
Am J Respir Cell Mol Biol 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC. PMID: 25789548Free 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
Pifferi M, Bush A, Michelucci A, Di Cicco M, Piras M, Caramella D, Mazzei F, Neri M, Pioggia G, Tartarisco G, Saggese G, Simi P, Boner AL
Pediatr Pulmonol 2015 Feb;50(2):179-86. Epub 2014 Apr 19 doi: 10.1002/ppul.23026. PMID: 24753481
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

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
Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD
Ann Am Thorac Soc 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736Free PMC Article
Kinghorn B, McNamara S, Genatossio A, Sullivan E, Siegel M, Bauer I, Clem C, Johnson RC, Davis M, Griffiths A, Wheeler W, Johnson K, Davis SD, Leigh MW, Rosenfeld M, Pittman J
Ann Am Thorac Soc 2020 Sep;17(9):1085-1093. doi: 10.1513/AnnalsATS.201905-375OC. PMID: 32603187Free PMC Article
Mirra V, Caffarelli C, Maglione M, Valentino R, Perruolo G, Mazzarella C, Di Micco LL, Montella S, Santamaria F
Ital J Pediatr 2015 Feb 22;41:14. doi: 10.1186/s13052-015-0119-5. PMID: 25887861Free PMC Article
Yiallouros PK, Kouis P, Middleton N, Nearchou M, Adamidi T, Georgiou A, Eleftheriou A, Ioannou P, Hadjisavvas A, Kyriacou K
Respir Med 2015 Mar;109(3):347-56. Epub 2015 Jan 31 doi: 10.1016/j.rmed.2015.01.015. PMID: 25698650

Clinical prediction guides

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
Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT
Pediatr Pulmonol 2021 Aug;56(8):2717-2723. Epub 2021 Jun 21 doi: 10.1002/ppul.25533. PMID: 34133086
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: 32551925Free PMC Article
Emiralioğlu N, Taşkıran EZ, Koşukcu C, Bilgiç E, Atilla P, Kaya B, Günaydın Ö, Yüzbaşıoğlu A, Tuğcu GD, Ademhan D, Eryılmaz Polat S, Gharibzadeh Hızal M, Yalçın E, Doğru D, Kiper N, Alikaşifoğlu M, Özçelik U
Pediatr Pulmonol 2020 Feb;55(2):383-393. Epub 2019 Nov 25 doi: 10.1002/ppul.24583. PMID: 31765523
Şişmanlar Eyüboğlu T, Aslan AT, Ceylan A, Soysal AŞ, Budakoğlu Iİ, Ulukavak Çiftçi T, Köktürk O
Pediatr Pulmonol 2018 Oct;53(10):1436-1441. Epub 2018 Jul 10 doi: 10.1002/ppul.24133. PMID: 29992786

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