IllnessKartagener syndrome/primary ciliary dyskinesia, differential diagnosis

Primary ciliary dyskinesia is characterized by chronic respiratory infections, abnormally positioned internal organs and infertility. Symptoms of this disease are caused by malfunctioning cilia and flagella, e.g. in the respiratory tract. Respiratory problems occur in newborns, as well as frequent respiratory infections in early childhood, and eventually bronchiectasis with possibly life-threatening respiratory problems later in life. Half of the patients present with situs inversus totalis, Kartagener syndrome, but usually without apparent health problems. Approximately 12% of affected individuals suffer from heterotaxy syndrome, situs ambiguus with abnormalities of the heart, liver, intestine or spleen, the severity varies widely. Recurrent otitis media is also often seen, which can lead to hearing loss; hydrocephalus, on the other hand, is rare. The disease is mostly inherited in an autosomal recessive manner, rarely X-linked, it can be caused by mutations in several dozen different genes. Mutations in the DNAI1 and DNAH5 genes are responsible for up to one third of cases. Mutations in the other genes associated with this disease are each found in only a small proportion of cases. Yet, in many individuals with primary ciliary dyskinesia, the cause of the disorder remains unclear. Therefore, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1122/

• Alias: Immotile cilia syndrome
• Alias: Primary ciliary dyskinesia, PCD
• Allelic: Dyslexia, susceptibility to, 1 (DNAAF4)
• Allelic: Infertility [panelapp] (CFAP74)
• Allelic: Male infertility due to sperm motility disorder [MONDO:0018395] (CFAP45)
• Allelic: Spermatogenic failure 18 (DNAH1)
• Allelic: Spermatogenic failure 46 (DNAH8)
• Ciliary dyskinesia, primary [panelapp] (CFAP74)
• Ciliary dyskinesia, primary, 1, with/-out situs inversus (DNAI1)
• Ciliary dyskinesia, primary, 10 (DNAAF2)
• Ciliary dyskinesia, primary, 11 (RSPH4A)
• Ciliary dyskinesia, primary, 12 (RSPH9)
• Ciliary dyskinesia, primary, 13 (DNAAF1)
• Ciliary dyskinesia, primary, 14 (CCDC39)
• Ciliary dyskinesia, primary, 15 (CCDC40)
• Ciliary dyskinesia, primary, 16 (DNAL)
• Ciliary dyskinesia, primary, 17 (CCDC103)
• Ciliary dyskinesia, primary, 18 (DNAAF5)
• Ciliary dyskinesia, primary, 19 (LRCC6)
• Ciliary dyskinesia, primary, 2 (DNAAF3)
• Ciliary dyskinesia, primary, 20 (CCDC114)
• Ciliary dyskinesia, primary, 21 (DRC1)
• Ciliary dyskinesia, primary, 22 (ZMYND10(
• Ciliary dyskinesia, primary, 23 (ARMC4)
• Ciliary dyskinesia, primary, 24 (RSPH1)
• Ciliary dyskinesia, primary, 25 (DNAAF4)
• Ciliary dyskinesia, primary, 26 (CFAP298)
• Ciliary dyskinesia, primary, 27 (CCDC65)
• Ciliary dyskinesia, primary, 28 (SPAG1)
• Ciliary dyskinesia, primary, 29 (CCNO)
• Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
• Ciliary dyskinesia, primary, 30 (CCDC151)
• Ciliary dyskinesia, primary, 32 (RSPH3)
• Ciliary dyskinesia, primary, 33 (GAS8)
• Ciliary dyskinesia, primary, 34 (DNAJB13)
• Ciliary dyskinesia, primary, 35 (TTC25)
• Ciliary dyskinesia, primary, 36, XL (DNAAF6 syn PIH1D3)
• Ciliary dyskinesia, primary, 37 (DNAH1)
• Ciliary dyskinesia, primary, 38 (CFAP300)
• Ciliary dyskinesia, primary, 39 (LRRC56)
• Ciliary dyskinesia, primary, 40 (DNAH9)
• Ciliary dyskinesia, primary, 41 (GAS2L2)
• Ciliary dyskinesia, primary, 42 (MCIDAS)
• Ciliary dyskinesia, primary, 43 (FOXJ1)
• Ciliary dyskinesia, primary, 44 (NEK10)
• Ciliary dyskinesia, primary, 45 (TTC12)
• Ciliary dyskinesia, primary, 5 (HYDIN)
• Ciliary dyskinesia, primary, 6 (NME8)
• Ciliary dyskinesia, primary, 7, with/-out situs inversus (DNAH11)
• Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
• Ciliopathies, laterality dis., isomerism, resp. ciliop. incl. non-CF bronchiect. [panelapp] (DNAH8)
• Heterotaxy [panelapp] (CFAP46)
• Heterotaxy, visceral, 6, AR (CFAP53)
• Situs inversus [MONDO:0010029] (CFAP45)
• Visceral heterotaxy [MONDO:0018677] (CFAP52)