Table I. Diseases related to ciliary defects.
| Defects in motile cilia | Defects in primary cilia |
|---|---|
| Symptoms | Symptoms |
| Respiratory tract infections, bronchiectasis, sinusitis, male infertility, situs inversus, hydrocephalus |
Cysts in kidney, liver, pancreas; polycystic kidney disease; nephronophthisis; type 2 diabetes |
| Sensory defects | |
| Retinal degeneration, anosmia (loss of smell), hearing impairment |
|
| Syndromes | Neurological disorders |
| Primary ciliary dyskinesia, Kartagener's syndrome, Siewert syndrome |
Neural tube closure and neural patterning defects, hydrocephalus, juvenile myoclonic epilepsy, cognitive disorders |
| Other | |
| Polydactyly, obesity, urological dysfunction, situs inversus |
|
| Syndromes | |
| Bardet-Biedl syndrome, Meckel-Gruber syndrome, Von Hippel Lindau disease, Loken-Senior syndrome, Alstrom syndrome |