CIDeRplusCiliopathy: Meckel syndrome
Diagnosis of Meckel-Gruber syndrome (MKS) relies on the classical diagnostic triad of cystic renal disease, central nervous system malformation (almost invariably occipital encephalocele), and polydactyly, although hepatic fibrosis is also extremely common. One of the most severe of the ciliopathies, MKS is lethal and death occurs in the perinatal period (PMID: 24322779).
List all interactions
Display GraphStatistics
| Interactions | 60 | Proteins/Genes | 13 | Chemical compounds/drugs | 0 |
| Biological Process(GO) | 2 | Phenotype | 0 |
Biological Process(GO)
| cilium assembly | 10 |
| intraciliary anterograde transport | 1 |