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Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus

MedGen UID:
1647157
Concept ID:
C4552030
Disease or Syndrome
Synonym: CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
 
OMIM®: 603339; 611884

Professional guidelines

PubMed

Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics
Am J Respir Crit Care Med 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515Free PMC Article
Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE
Eur Respir J 2017 Jan;49(1) Epub 2017 Jan 4 doi: 10.1183/13993003.01090-2016. PMID: 27836958Free PMC Article

Recent clinical studies

Etiology

Jat KR, Faruq M, Jindal S, Bari S, Soni A, Sharma P, Mathews S, Shamim U, Ahuja V, Uppilli B, Yadav SC, Lodha R, Arava SK, Kabra SK
Clin Genet 2024 Nov;106(5):650-658. Epub 2024 Jul 14 doi: 10.1111/cge.14590. PMID: 39004944
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
Beydon N, Tamalet A, Escudier E, Legendre M, Thouvenin G
Pediatr Pulmonol 2021 Jul;56(7):2242-2249. Epub 2021 Apr 26 doi: 10.1002/ppul.25432. PMID: 33860637
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Holzmann D, Ott PM, Felix H
Eur J Pediatr 2000 Jan-Feb;159(1-2):95-8. doi: 10.1007/pl00013813. PMID: 10653339

Diagnosis

Jat KR, Faruq M, Jindal S, Bari S, Soni A, Sharma P, Mathews S, Shamim U, Ahuja V, Uppilli B, Yadav SC, Lodha R, Arava SK, Kabra SK
Clin Genet 2024 Nov;106(5):650-658. Epub 2024 Jul 14 doi: 10.1111/cge.14590. PMID: 39004944
Keicho N, Hijikata M, Miyabayashi A, Wakabayashi K, Yamada H, Ito M, Morimoto K
Respir Investig 2024 Jan;62(1):179-186. Epub 2023 Dec 28 doi: 10.1016/j.resinv.2023.12.005. PMID: 38154292
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
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article

Therapy

Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A
Hum Mol Genet 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034. PMID: 29365104
Alanin MC, Aanaes K, Høiby N, Pressler T, Skov M, Nielsen KG, Johansen HK, von Buchwald C
Int Forum Allergy Rhinol 2017 Mar;7(3):240-247. Epub 2016 Nov 23 doi: 10.1002/alr.21873. PMID: 27879058
Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR
Ann Am Thorac Soc 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC. PMID: 27070726Free 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

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
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
Takeuchi K, Kitano M, Sakaida H, Usui S, Masuda S, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K
Otol Neurotol 2017 Dec;38(10):e451-e456. doi: 10.1097/MAO.0000000000001599. PMID: 29135867
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
Valerio G, Giallauria F, Montella S, Vaino N, Vigorito C, Mirra V, Santamaria F
Eur J Clin Invest 2012 Jun;42(6):617-22. Epub 2011 Nov 29 doi: 10.1111/j.1365-2362.2011.02626.x. PMID: 22121832

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
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E
Genes (Basel) 2022 Jul 15;13(7) doi: 10.3390/genes13071252. PMID: 35886035Free PMC Article
Chen W, Guo Z, Qian L, Wang L
Birth Defects Res 2020 Mar;112(5):418-426. Epub 2020 Jan 29 doi: 10.1002/bdr2.1652. PMID: 31994846
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW
Am J Respir Crit Care Med 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075Free PMC Article
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

Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N
BMC Pulm Med 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4. PMID: 31345208Free PMC Article
Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V
Ann Am Thorac Soc 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR. PMID: 28481653Free PMC Article

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