KEGG   DISEASE: Primary ciliary dyskinesia
Entry
H00564                      Disease                                

Name
Primary ciliary dyskinesia
  Subgroup
Kartagener syndrome
Description
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome.
Category
Respiratory disease
Brite
Human diseases [BR:br08402]
 Respiratory diseases
  Tracheobronchial diseases
   H00564  Primary ciliary dyskinesia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the respiratory system
    LA75  Structural developmental anomalies of lungs
     H00564  Primary ciliary dyskinesia
Gene
(CILD1) DNAI1 [HSA:27019] [KO:K10409]
(CILD2) DNAAF3 [HSA:352909] [KO:K19752]
(CILD3) DNAH5 [HSA:1767] [KO:K10408]
(CILD5) HYDIN [HSA:54768] [KO:K17570]
(CILD6) TXNDC3 [HSA:51314] [KO:K19868]
(CILD7) DNAH11 [HSA:8701] [KO:K10408]
(CILD9) DNAI2 [HSA:64446] [KO:K11143]
(CILD10) KTU [HSA:55172] [KO:K19751]
(CILD11) RSPH4A [HSA:345895] [KO:K19756]
(CILD12) RSPH9 [HSA:221421] [KO:K19757]
(CILD13) LRRC50 [HSA:123872] [KO:K19750]
(CILD14) CCDC39 [HSA:339829] [KO:K23729]
(CILD15) CCDC40 [HSA:55036] [KO:K23730]
(CILD16) DNAL1 [HSA:83544] [KO:K10411]
(CILD17) CCDC103 [HSA:388389] [KO:K23731]
(CILD18) HEATR2 [HSA:54919] [KO:K19759]
(CILD19) LRRC6 [HSA:23639] [KO:K19753]
(CILD20) CCDC114 [HSA:93233] [KO:K23732]
(CILD21) DRC1 [HSA:92749] [KO:K19754]
(CILD22) ZMYND10 [HSA:51364] [KO:K24030]
(CILD23) ARMC4 [HSA:55130] [KO:K24125]
(CILD24) RSPH1 [HSA:89765] [KO:K19755]
(CILD25) DYX1C1 [HSA:161582] [KO:K19758]
(CILD26) C21ORF59 [HSA:56683] [KO:K24229]
(CILD27) CCDC65 [HSA:85478] [KO:K23728]
(CILD28) SPAG1 [HSA:6674] [KO:K19870]
(CILD29) CCNO [HSA:10309] [KO:K10861]
(CILD30) CCDC151 [HSA:115948] [KO:K23733]
(CILD32) RSPH3 [HSA:83861] [KO:K23965]
(CILD33) GAS8 [HSA:2622] [KO:K19942]
(CILD34) DNAJB13 [HSA:374407] [KO:K09519]
(CILD35) TTC25 [HSA:83538] [KO:K24254]
(CILD36) PIH1D3 [HSA:139212] [KO:K24253]
(CILD37) DNAH1 [HSA:25981] [KO:K10408]
(CILD38) CFAP300 [HSA:85016] [KO:K24230]
(CILD39) LRRC56 [HSA:115399]
(CILD40) DNAH9 [HSA:1770] [KO:K10408]
(CILD41) GAS2L2 [HSA:246176] [KO:K24627]
(CILD42) MCIDAS [HSA:345643] [KO:K10749]
(CILD43) FOXJ1 [HSA:2302] [KO:K09402]
(CILD44) NEK10 [HSA:152110] [KO:K20879]
(CILD45) TTC12 [HSA:54970] [KO:K24652]
Other DBs
ICD-11: LA75.Y
ICD-10: J98.0
MeSH: D007619
OMIM: 244400 606763 608644 608647 610852 611884 612444 612518 612649 612650 613193 613807 613808 614017 614679 614874 614935 615067 615294 615444 615451 615481 615482 615500 615504 615505 615872 616037 616481 616726 617091 617092 300991 617577 618063 618254 618300 618449 618695 618699 618781 618801
Reference
  Authors
Bergmann C
  Title
Educational paper: ciliopathies.
  Journal
Eur J Pediatr 171:1285-300 (2012)
DOI:10.1007/s00431-011-1553-z
Reference
  Authors
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA
  Title
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
  Journal
Genet Med 11:473-87 (2009)
DOI:10.1097/GIM.0b013e3181a53562
Reference
  Authors
Zariwala MA, Omran H, Ferkol TW
  Title
The emerging genetics of primary ciliary dyskinesia.
  Journal
Proc Am Thorac Soc 8:430-3 (2011)
DOI:10.1513/pats.201103-023SD
Reference
  Authors
Zariwala MA, Knowles MR, Omran H
  Title
Genetic defects in ciliary structure and function.
  Journal
Annu Rev Physiol 69:423-50 (2007)
DOI:10.1146/annurev.physiol.69.040705.141301
Reference
  Authors
Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR
  Title
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
  Journal
Nat Genet 44:381-9, S1-2 (2012)
DOI:10.1038/ng.1106
Reference
  Authors
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Kohler G, Schroeder J, Nurnberg G, Nurnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H
  Title
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
  Journal
Am J Hum Genet 91:672-84 (2012)
DOI:10.1016/j.ajhg.2012.08.016
Reference
  Authors
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM
  Title
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
  Journal
Hum Mutat 34:462-72 (2013)
DOI:10.1002/humu.22261
Reference
  Authors
Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R
  Title
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
  Journal
Am J Hum Genet 88:599-607 (2011)
DOI:10.1016/j.ajhg.2011.03.018
Reference
  Authors
Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA
  Title
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
  Journal
Nat Genet 44:714-9 (2012)
DOI:10.1038/ng.2277
Reference
  Authors
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW
  Title
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
  Journal
Am J Hum Genet 91:685-93 (2012)
DOI:10.1016/j.ajhg.2012.08.022
Reference
  Authors
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Toure A, Escudier E, Amselem S
  Title
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
  Journal
Am J Hum Genet 91:958-64 (2012)
DOI:10.1016/j.ajhg.2012.10.003
Reference
  Authors
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA
  Title
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
  Journal
Am J Hum Genet 92:99-106 (2013)
DOI:10.1016/j.ajhg.2012.11.003
Reference
  Authors
Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlen B, Horak E, Kohler G, Nurnberg P, Nurnberg G, Porter ME, Omran H
  Title
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
  Journal
Nat Genet 45:262-8 (2013)
DOI:10.1038/ng.2533
Reference
  Authors
Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM
  Title
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
  Journal
Am J Hum Genet 93:346-56 (2013)
DOI:10.1016/j.ajhg.2013.07.009
Reference
  Authors
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H
  Title
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
  Journal
Am J Hum Genet 93:357-67 (2013)
DOI:10.1016/j.ajhg.2013.06.009
Reference
  Authors
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S
  Title
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
  Journal
Am J Hum Genet 93:561-70 (2013)
DOI:10.1016/j.ajhg.2013.07.013
Reference
  Authors
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Kohler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H
  Title
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
  Journal
Nat Genet 45:995-1003 (2013)
DOI:10.1038/ng.2707
Reference
  Authors
Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F
  Title
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
  Journal
Am J Hum Genet 93:672-86 (2013)
DOI:10.1016/j.ajhg.2013.08.015
Reference
  Authors
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA
  Title
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
  Journal
Am J Hum Genet 93:711-20 (2013)
DOI:10.1016/j.ajhg.2013.07.025
Reference
  Authors
Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Kohler G, Jaspers M, Boon M, Griese M, Schmitt-Grohe S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H
  Title
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
  Journal
Nat Genet 46:646-51 (2014)
DOI:10.1038/ng.2961
Reference
  Authors
Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B
  Title
The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.
  Journal
Hum Mol Genet 23:563-77 (2014)
DOI:10.1093/hmg/ddt445
Reference
  Authors
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Desir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M
  Title
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
  Journal
Am J Hum Genet 97:153-62 (2015)
DOI:10.1016/j.ajhg.2015.05.004
Reference
  Authors
Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmuller J, Rommelmann F, Omran H
  Title
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
  Journal
Am J Hum Genet 97:546-54 (2015)
DOI:10.1016/j.ajhg.2015.08.012
Reference
  Authors
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lores P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Toure A, Amselem S
  Title
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
  Journal
Am J Hum Genet 99:489-500 (2016)
DOI:10.1016/j.ajhg.2016.06.022
Reference
  Authors
Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H
  Title
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
  Journal
Am J Hum Genet 99:460-9 (2016)
DOI:10.1016/j.ajhg.2016.06.014
Reference
  Authors
Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JM, Sistermans EA, Bogunovic N, Dougherty GW, Hoben IM, Grosse-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D
  Title
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
  Journal
Am J Hum Genet 100:160-168 (2017)
DOI:10.1016/j.ajhg.2016.11.019
Reference
  Authors
Fassad MR, Shoemark A, le Borgne P, Koll F, Patel M, Dixon M, Hayward J, Richardson C, Frost E, Jenkins L, Cullup T, Chung EMK, Lemullois M, Aubusson-Fleury A, Hogg C, Mitchell DR, Tassin AM, Mitchison HM
  Title
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
  Journal
Am J Hum Genet 102:956-972 (2018)
DOI:10.1016/j.ajhg.2018.03.024
Reference
  Authors
Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabert L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE
  Title
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
  Journal
Am J Hum Genet 104:229-245 (2019)
DOI:10.1016/j.ajhg.2018.12.009
Reference
  Authors
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Toure A, Mitchell V, Amselem S, Legendre M
  Title
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
  Journal
Am J Hum Genet 106:153-169 (2020)
DOI:10.1016/j.ajhg.2019.12.010
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