Autosomique récessif
Une maladie rare d'origine génétique et hétérogène, principalement respiratoire, caractérisée par une atteinte chronique des voies respiratoires supérieures et inférieures. Environ la moitié des personnes atteintes de PCD présentent une anomalie de la latéralisation des organes (situs inversus totalis ou situs ambiguus/hétérotaxie).
Gènes analysés
Également connu sous le nom de
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
Inclut 60 sous-types associés ↓Masquer les sous-types ↑
- 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
