Table 3.
Nephronophthisis and the medullary cystic kidney disease complex
| Disease | Main features | Gene (locus) | Corresponding protein |
|---|---|---|---|
| Nephronophthisis (NPH) and Senior-Loken syndrome (SLSN) | Autosomal recessive | NPHP1 (2q13) | Nephrocystin-1 |
| Hyperechogenic normal or small-sized kidneys with decreased corticomedullary differentiation | INVS/NPHP2 (9q31.1) | Inversin | |
| Tubulo-interstitial nephropathy | NPHP3 (3q22.1) | Nephrocystin-3 | |
| Polyuria, polydipsia, anemia | NPHP4 (1p36.31) | Nephrocystin-4 | |
| Senior-Loken syndrome: NPH + retinal dystrophy | IQCB1/NPHP5 (3q13.33) | IQCB1 | |
| CEP290/NPHP6 (12q21.32) | CEP290 | ||
| GLIS2/NPHP7 (16p13.3) | GLIS2 | ||
| RPGRIP1L/NPHP8 (16q12.2) | RPGRIP1L | ||
| NEK8/NPHP9 (17q11.2) | NEK8 | ||
| SDCCAG8/NPHP10 (1q43) | SDCCAG8 | ||
| TMEM67/NPHP11 (8q22.1) | Meckelin | ||
| TTC21B/NPHP12 (2q24.3) | IFT139 | ||
| XPNPEP3/NPHPL1 (22q13.2) | XPNPEP3 | ||
| Uromodulin-associated diseases: medullary cystic kidney disease (MCKD2), familial juvenile hyperuremic nephropathy (FJHN), glomerulocystic kidney disease (GCKD) | Autosomal dominant | UMOD (16p12.3) | Uromodulin/Tamm-Horsfall protein |
| Normal or reduced kidney volumen with usually small medullary or corticomedullary cysts | |||
| Tubulo-interstitial nephropathy | |||
| Hyperuricemia, gout |