Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Phenotypically heterogeneous, ciliopathic features can manifest from variation at a single locus while mutations affecting a number of different loci can, at the same time, result in similar phenotypes. Mutations in more than 40 genes have been associated with ciliopathic features (PMID:21210154).
Rather than being distinct clinical entities, ciliopathies are considered to form a spectrum of disorders, with considerable phenotypic and genotypic overlap between different conditions. In addition to this, there is also extensive phenotypic and genetic heterogeneity amongst ciliopathies. There are currently at least 190 known ciliopathy disease genes causing defects of the primary cilia, and mutations in many of the same genes can cause strikingly different phenotypes (PMID:31572427).
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