Table 3.
Ciliopathy-related renal disease
| Syndrome | Mutated gene | Cilia/centrosome references |
|---|---|---|
| Autosomal dominant polycystic kidney disease (ADPKD) | PKD1 | [57] |
| PKD2 | ||
| Autosomal recessive polycystic kidney disease | PKHD1 | [58, 59] |
| Jeune | IFT80 | [60] |
| Orofaciodigital (type 1) | OFD1 | [61] |
| Meckel–Gruber | MKS1 | [62] |
| MSK3 | ||
| Nephronophthisis | NPHP1 | [63] |
| NPHP2 (inversin) | ||
| NPHP3 | ||
| NPHP4 | ||
| NPHP5 | ||
| NPHP6 | ||
| NPHP7 | ||
| NPHP8 (RPGRIP1L) | ||
| NPHP9 (NEK8) | ||
| Tuberous sclerosis complex (TSC) | TSC1 | [64–67] |
| TSC2 | ||
| Bardet–Biedl | BBS1 | [63] |
| BBS2 | ||
| BBS3/ARL6 | ||
| BBS4 | ||
| BBS5 | ||
| BBS6/MKKS | ||
| BBS7 | ||
| BBS8 | ||
| BBS9 | ||
| BBS10 | ||
| BBS11/TRIM32 | ||
| BBS12 |