ciliopathyA family of conditions which have ciliary dysfunction in common.
Retinal degeneration, renal cystic disease, skeletal defects, fibrosis of various tissues, and a complex range of anatomical and functional defects of the central and peripheral nervous system.
Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis.
Disease variation is best explained by variability in the ciliary proteome rather than by single defective genes.
ciliopathy(sil″ē-op′ă-thē) [ cilia (threadlike projections) + -pathy]
Any inherited disease, such as the polycystic kidney diseases, caused by mutations in genes that impair ciliary function or ciliary links to centrosomes within cells.