ciliopathy

ciliopathy

A family of conditions which have ciliary dysfunction in common.

Clinical findings
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.

Examples
Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis.
 
Genetics
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.
References in periodicals archive ?
2008), or, much broader, the mechanisms involved in ciliopathy in general (D'Angelo & Franco, 2009), which also involves retinal development.
2860) "Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
Joubert syndrome, which is a ciliopathy, affects brain functioning, resulting in intellectual deficits, movement and coordination problems and other symptoms such as kidney and eye problems.
The other ciliopathy gene identified in this study leads to a condition called nephronopthisis, which is also associated with kidney and eye problems.
Summary: TEHRAN (FNA)- Researchers have recently identified that the hydrolethalus syndrome, that is a lethal developmental disorder, actually belongs to the emerging class of human ciliopathy diseases.
Working in collaboration with many ciliopathy labs worldwide, Davis sequenced a gene, TTC21B, known to be a critical component of the primary cilium, an antenna-like projection critical to cell function.
Nephronophthisis: disease-mechanisms of a ciliopathy.
Louie, found that the loss of the AHI1 gene, which had already been found to cause Joubert Syndrome, a ciliopathy of mental retardation and impaired balance, also lead to severe early onset of retinal degeneration in the mouse model that they created.
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.