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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00537 | Nephronophthisis | Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... | Congenital malformation |
(NPHP1) NPHP1 [HSA:4867] [KO:K19657] (NPHP2) INVS [HSA:27130] [KO:K19626] (NPHP3) NPHP3 [HSA:27031] [KO:K19360] (NPHP4) NPHP4 [HSA:261734] [KO:K16478] (NPHP5) IQCB1 [HSA:9657] [KO:K16774] (NPHP6) CEP290 [HSA:80184] [KO:K16533] (NPHP7) GLIS2 [HSA:84662] [KO:K09233] (NPHP9) NEK8 [HSA:284086] [KO:K20877] (NPHP10) SDCCAG8 [HSA:10806] [KO:K16488] (NPHP11) TMEM67 [HSA:91147] [KO:K19348] (NPHP12) TTC21B [HSA:79809] [KO:K19673] (NPHP13) WDR19 [HSA:57728] [KO:K19671] (NPHP14) ZNF423 [HSA:23090] [KO:K22870] (NPHP15) CEP164 [HSA:22897] [KO:K16462] (NPHP16) ANKS6 [HSA:203286] [KO:K21415] (NPHP18) CEP83 [HSA:51134] [KO:K16754] (NPHP19) DCDC2 [HSA:51473] [KO:K23405] (NPHP20) MAPKBP1 [HSA:23005] [KO:K21763] (NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262] (NPHPL2) SLC41A1 [HSA:254428] [KO:K15122] |
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| H00543 | Renal-hepatic-pancreatic dysplasia | Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations ... | Congenital malformation |
(RHPD1) NPHP3 [HSA:27031] [KO:K19360] (RHPD2) NEK8 [HSA:284086] [KO:K20877] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |