Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Late-onset nephronophthisis | MONDO:0019742 | ||
| Nephronophthisis 1 | MONDO:0009728 | NPHP1 | |
| Nephronophthisis 11 | MONDO:0013302 | TMEM67 | |
| Nephronophthisis 12 | MONDO:0013442 | TTC21B | |
| Nephronophthisis 13 | MONDO:0013718 | WDR19 | |
| Nephronophthisis 14 | MONDO:0013916 | ZNF423 | |
| Nephronophthisis 15 | MONDO:0013917 | ||
| Nephronophthisis 16 | MONDO:0014158 | ANKS6 | |
| Nephronophthisis 18 | MONDO:0014374 | CEP83 | |
| Nephronophthisis 19 | MONDO:0014537 | DCDC2 | |
| Nephronophthisis 2 | MONDO:0011190 | INVS | |
| Nephronophthisis 20 | MONDO:0014997 | MAPKBP1 | |
| Nephronophthisis 3 | MONDO:0011456 | NPHP3 | |
| Nephronophthisis 4 | MONDO:0011752 | NPHP4 | |
| Nephronophthisis 7 | MONDO:0012680 | GLIS2 | |
| Nephronophthisis 9 | MONDO:0013444 | NEK8 | |
| Nephronophthisis-like nephropathy 1 | MONDO:0013163 | XPNPEP3 | |
| Nephronophthisis-like nephropathy 2 | MONDO:0859175 |
Rare disease
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