primary ciliary dyskinesia
MIM.242650
PCD, immotile cilia syndrome
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.
| CILD1 | MIM.242650 | 9p21-p13 | DNAI1 |
| CILD2 | MIM.606763 | 19q13.3-qter | unknown |
| CILD3 | MIM.608644 | 5p15-p14 | DNAH5 |
| CILD4 | MIM.608646 | 15q13.1-q15.1 | unknown |
| CILD5 | MIM.608647 | 16p12.2-p12.1 | unknown |
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#
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