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 ?
The patient's ciliopathy was associated with mutations of cilia gene CEP290.
The patients ciliopathy was associated with mutations of cilia gene CEP290.
Another disease that has been the focus of osteoarthritis research as of late is the ciliopathy Bardet-Biedl syndrome (BBS).
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.
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.
The variable manifestations of this syndrome can be explained on molecular basis by ciliopathy.
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.