Ciliopathy

A genetic disorder caused by defects in the structure or function of cilia. Ciliopathies can affect multiple organs because cilia support signaling and movement in many tissues.

Primary cilium: A usually nonmotile, antenna-like projection from a cell that organizes signaling pathways. Many ciliopathies disrupt this organelle’s role in sensing and transmitting signals.
Joubert syndrome: A genetic neurodevelopmental disorder marked by a distinctive brainstem and cerebellar malformation. It is a classic ciliopathy with neurological, retinal, kidney, and liver manifestations.
Cilium: A slender cell-surface projection that senses signals or moves fluid, depending on its type. Ciliopathies arise when these cellular projections are built or function abnormally.
Genetic testing: Laboratory analysis of DNA to identify variants associated with inherited traits or disorders. Testing can identify disease-causing variants and clarify which ciliopathy is present.
Variable expressivity: The range of severity and features with which the same genetic condition appears in different individuals. People with related ciliary gene defects can have markedly different symptoms.
Intraflagellar transport: The bidirectional movement of proteins along cilia and flagella, needed to build and maintain them. Faulty transport can impair cilium assembly and cause multisystem disease.
Bardet–Biedl syndrome: A genetic disorder commonly involving retinal degeneration, obesity, extra fingers or toes, and kidney abnormalities. Its combination of features illustrates the wide reach of ciliary dysfunction.
Motile cilia: Cilia that beat in coordinated waves to move fluid or particles across cell surfaces. Their impaired motion can cause respiratory disease and laterality defects.
Renal ciliopathy: A cilium-related disorder in which kidney development or function is impaired. Kidney involvement is common across several ciliopathy syndromes.
Genetic modifier: A genetic variant that changes the effects of a variant in another gene. Modifier genes may help explain why ciliopathy severity differs among individuals.

Linked from 5 pages

Autosomal dominant polycystic kidney diseaseNarrower topic: Polycystin proteins function in cilia-related signaling, linking this disease to a broader disorder family.