Ciliopathies are heterogeneous diseases of genetic origin, caused by disorders in the structure or function of (mostly primary) cilia. Cilia are vital cell organelles that play a crucial role in organ development, tissue homoeostasis and fundamental development processes. Depending on the exact defect of the proteins involved in ciliary formation and function, a variety of genetic disorders are observed, often showing strong clinical overlaps. In addition, pathogenic variants in the same gene may result in different phenotypes (pleiotropy).
Molecular genetic testing is essential to achieve an accurate diagnosis.
| A | Alagille syndrome |
| Alström syndrome | |
| B | Bardet-Biedl syndrome (BBS) |
| Birt-Hogg-Dubé syndrome | |
| C | Cystic kidney disease |
| E | Ellis-van-Creveld syndrome (EVC) |
| H | Heterotaxy |
| J | Jeune syndrome |
| Joubert syndrome | |
| M | Mainzer-Saldino syndrome |
| Meckel-Gruber syndrome | |
| N | Nephronophthisis (NPHP) |
| O | Orofaciodigital syndrome (OFD) |
| P | Peroxisome biogenesis disorders |
| Polycystic kidney disease, autosomal dominant (ADPKD) | |
| Polycystic kidney disease, autosomal recessive (ARPKD) | |
| Primary ciliary dyskinesia (PCD) | |
| S | Senior-Loken syndrome |
| Sensenbrenner syndrome | |
| T | Tuberous sclerosis (TSC) |
| V | VACTERL association |
| Von Hippel-Lindau disease (VHL) |