Home > B. Cellular pathology > primary ciliary dyskinesia
primary ciliary dyskinesia
MIM.242650
Sunday 23 November 2003
PCD, immotile cilia syndrome
Digital case (Digital slides)
HPC:366 : Bronchiectasis in ciliary dyskinesia
Definition: Autosomal recessive chronic pulmonary disease.
Synopsis
bronchiectasis
immotile cilia
ciliary dyskinesia
chronic rhinitis
sinusitis
nasal polyps
abnormal dynein arms by electron microscopy
Etiology: 5 loci have been identified.
| DNAI1 | CILD1 | MIM.242650 | 9p21-p13 |
| unknown | CILD2 | MIM.606763 | 19q13.3-qter |
| DNAH5 | CILD3 | MIM.608644 | 5p15-p14 |
| unknown | CILD4 | MIM.608646 | 15q13.1-q15.1 |
| unknown | CILD5 | MIM.608647 | 16p12.2-p12.1 |
See also
Kartagener syndrome
References
Afzelius BA. Cilia-related diseases. J Pathol. 2004 Nov;204(4):470-7. PMID: 15495266
Ibanez-Tallon I, Heintz N, Omran H. To beat or not to beat : roles of cilia in development and disease. Hum Mol Genet. 2003 Apr 2 ;12(Suppl 1) :R27-35. PMID : 12668594
El Zein L, Omran H, Bouvagnet P. Lateralization defects and ciliary dyskinesia : lessons from algae. Trends Genet. 2003 Mar ;19(3):162-7. PMID : 12615011