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Entry Name Description Category Pathway Gene
H00261 Meckel syndrome
Meckel-Gruber syndrome 		Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet. Congenital malformation (MKS1) MKS1 [HSA:54903] [KO:K19332]
(MKS2) TMEM216 [HSA:51259] [KO:K19385]
(MKS3) TMEM67 [HSA:91147] [KO:K19348]
(MKS4) CEP290 [HSA:80184] [KO:K16533]
(MKS5) RPGRIP1L [HSA:23322] [KO:K16550]
(MKS6) CC2D2A [HSA:57545] [KO:K19352]
(MKS7) NPHP3 [HSA:27031] [KO:K19360]
(MKS8) TCTN2 [HSA:79867] [KO:K19361]
(MKS9) B9D1 [HSA:27077] [KO:K16744]
(MKS10) B9D2 [HSA:80776] [KO:K16745]
(MKS11) TMEM231 [HSA:79583] [KO:K19362]
(MKS12) KIF14 [HSA:9928] [KO:K17915]
(MKS13) TMEM107 [HSA:84314] [KO:K22764]
(MKS14) TXNDC15 [HSA:79770] [KO:K25389]
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]
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 cause the disorder. Congenital malformation (RHPD1) NPHP3 [HSA:27031] [KO:K19360]
(RHPD2) NEK8 [HSA:284086] [KO:K20877]
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