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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] |
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