Figure 1.

Venn diagram illustrating the major genetic and phenotypic overlap in hereditary ciliopathies featuring cystic kidney disease. So far well-defined clinical entities can be caused by mutations in multiple genes, whereas at the same time mutations in the same gene can cause very different phenotypes depending on the type of mutation ranging from isolated nephronophthisis (NPH) to lethal early embryonic multivisceral manifestations like Meckel–Gruber syndrome.