Table 3. Genetics defects underlying NPHP, associated features and other clinical phenotypes.
| Gene (protein) | Chromosome | NPHP type | Clinical features associated with NPHP | Other clinical phenotypes |
|---|---|---|---|---|
| NPHP1 (nephrocystin-1) | 2q13 | NPHP | Mild JS, mild RP, Cogan | JS |
| NPHP2/INVS (inversin) | 9q31 | Infantile NPHP | RP, liver fibrosis, situs inversus, hypertension, VSD | |
| NPHP3 (nephrocystin-3) | 3q22 | NPHP, Infantile NPHP | Liver fibrosis, RP, situs inversus | MKS |
| NPHP4 (nephrocystin-4 or nephroretinin) | 1p36 | NPHP | Cogan, RP | |
| NPHP5/IQCB1 (nephrocystin-5) | 3q21 | NPHP | Severe RP | |
| NPHP6/CEP290 (nephrocystin-6/CEP290) | 12q21 | NPHP | JS, severe RP | Isolated RP, JS, MKS, BBS |
| NPHP7/GLIS2 (GLIS2) | 16p | NPHP | ||
| NPHP8/RPGRIP1L (RPGRIP1L) | 16q | NPHP | JS | JS, MKS |
| NPHP9/NEK8 (NEK8) | 17q11 | NPHP, Infantile NPHP | ||
| AHI1 (Jouberin/AHI1) | 6q23 | NPHP | JS, RP | JS |
JS, Joubert syndrome type B; RP, retinitis pigmentosa; Cogan, oculomotor apraxia type Cogan; MKS, Meckel–Gruber syndrome; VSD, ventricular septal defect.