Autozomal recesivă
O tulburare genetică rară, genetic eterogenă, cu manifestări predominant respiratorii, caracterizată prin afecțiuni cronice ale tractului respirator superior și inferior. Aproximativ jumătate dintre pacienții cu DCP prezintă o anomalie de lateralitate a organelor (situs inversus totalis sau situs ambiguus/heterotaxie).
Gene analizate
Denumită și
bronchiectasis, chronic sinusitis and dextrocardia syndrome; ciliary dyskinesia primary; Dextrocardia bronchiectasis and sinusitis; Dextrocardia-bronchiectasis-sinusitis syndrome; ICS; Immotile cilia syndrome, Kartagener type; Kartagener syndrome; Kartagener's syndrome; PCD; Primary ciliary dyskinesia and situs inversus; Primary ciliary dyskinesia, Kartagener type; Siewert syndrome
Include 60 subtipuri înrudite ↓Ascunde subtipurile ↑
- CFAP46-related primary ciliary dyskinesia
- ciliary discoordination due to random ciliary orientation
- ciliary dyskinesia with defective radial spokes
- ciliary dyskinesia with excessively long cilia
- ciliary dyskinesia with transposition of ciliary microtubules
- ciliary dyskinesia, primary, 36, X-linked
- ciliary dyskinesia, primary, 37
- ciliary dyskinesia, primary, 38
- ciliary dyskinesia, primary, 39
- ciliary dyskinesia, primary, 40
- ciliary dyskinesia, primary, 41
- ciliary dyskinesia, primary, 42
- ciliary dyskinesia, primary, 43
- ciliary dyskinesia, primary, 44
- ciliary dyskinesia, primary, 45
- ciliary dyskinesia, primary, 46
- ciliary dyskinesia, primary, 47, and lissencephaly
- ciliary dyskinesia, primary, 48, without situs inversus
- ciliary dyskinesia, primary, 49, without situs inversus
- ciliary dyskinesia, primary, 50
- ciliary dyskinesia, primary, 51
- ciliary dyskinesia, primary, 52
- ciliary dyskinesia, primary, 53
- ciliary dyskinesia, primary, 54
- primary ciliary dyskinesia 1
- primary ciliary dyskinesia 10
- primary ciliary dyskinesia 11
- primary ciliary dyskinesia 12
- primary ciliary dyskinesia 13
- primary ciliary dyskinesia 14
- primary ciliary dyskinesia 15
- primary ciliary dyskinesia 16
- primary ciliary dyskinesia 17
- primary ciliary dyskinesia 18
- primary ciliary dyskinesia 19
- primary ciliary dyskinesia 2
- primary ciliary dyskinesia 20
- primary ciliary dyskinesia 21
- primary ciliary dyskinesia 22
- primary ciliary dyskinesia 23
- primary ciliary dyskinesia 24
- primary ciliary dyskinesia 25
- primary ciliary dyskinesia 26
- primary ciliary dyskinesia 27
- primary ciliary dyskinesia 28
- primary ciliary dyskinesia 29
- primary ciliary dyskinesia 3
- primary ciliary dyskinesia 30
- primary ciliary dyskinesia 32
- primary ciliary dyskinesia 33
- primary ciliary dyskinesia 34
- primary ciliary dyskinesia 35
- primary ciliary dyskinesia 4
- primary ciliary dyskinesia 5
- primary ciliary dyskinesia 6
- primary ciliary dyskinesia 7
- primary ciliary dyskinesia 8
- primary ciliary dyskinesia 9
- Stromme syndrome
- Young syndrome
