| Gene | Protein | Inheritance | Onset | Comments |
|---|---|---|---|---|
| PKD1 | Polycystin 1 | AD | Childhood to adulthood | Large renal cysts, liver cysts |
| PKD2 | Poycystin 2 | AD | Childhood to adulthood | Large renal cyst, liver cysts |
| PKHD | Fibrocystin | AR | Infancy to childhood | Nephromegaly with microcysts, hepatic fibrosis, ESRD |
| NPHP1 | Nephrocystin-1 | AR | Childhood | Nephronophthisis(NPHP) type 1 - interstitial fibrosis with microcysts |
| Inversin | Inversin | AR | Infancy to childhood | NPHP type 2 -early onset, situs in versus |
| NPHP3 | NPHP3 | AR | Adolescence | NPHP type 3 |
| NPHP4 | Nephroretinin | AR | Adolescence | NPHP type 4 |
| NPHP5/IQCB1 | NPHP5/IQ motif containing B1 | AR | Childhood | NPHP type 5 |
| NPHP6/CEP2901 | NPHP6/centrosome protein Cep290 | AR | Childhood | NPHP6 |
| NPHP7/GLIS2 | GLIS family zinc finger protein 2 | AR | Adolescence | NPHP7 |
| NPHP8/RPGRIP1L | RPGRIP1L | AR | Childhood | NPHP8, Meckel syndrome, Joubert syndrome |
| NPH9/NEK8 | NIMA-related kinase | AR | Childhood | NPHP9 |
| SDCCAG8 | SDCCAG8 | AR | Childhood | NPHP10, Senior-Loken syndrome |
| TMEM67 | Transmembrane protein 67 | AR | Childhood | NPHP11, hepatic fibrosis |
| TTC21B | Tetratricopeptide repeat domain-containing protein 21B |
AR | Childhood | NPHP12 |
| WDR19 | WD repeat-containing protein 19 | AR | Childhood | NPHP13 |