Table 1.
Primary ciliary dyskinesia and Kartagener syndrome
| Disease | Main features | Gene (locus) | Corresponding protein |
|---|---|---|---|
| Primary ciliary dyskinesia (PCD)/Kartagener syndrome | Impaired mucociliary clearance = recurrent airway infections and lung damage (e.g., bronchiectases) | DNAI1/CILD1 (9p13.3) | DNAI1 |
| Reduced fertility in males | DNAH5/CILD3 (5p15.2) | DNAH5 | |
| Situs inversus (=Kartagener syndrome), heterotaxy features such as asplenia/polysplenia or congenital heart defects less common | TXNDC3/CILD6 (7p14.1) | TXNDC3 | |
| DNAH11/CILD7 (7p15.3) | DNAH11 | ||
| DNAI2/CILD9 (17q25.1) | DNAI2 | ||
| KTU (C14orf104)/CILD10 (14q21) | Kintoun | ||
| RSPH4A/CILD11 (6q22.1) | RSPH4A | ||
| RSPH9/CILD12 (6p21.1) | RSPH9 | ||
| LRRC50/CILD13 (16q24.1) | LRRC50 | ||
| CCDC39 (3q26.33) | CCDC39 | ||
| CCDC40 (17q25.3) | CCDC40 | ||
| DNAL1 (14q24.3) | DNAL1 |