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 ?
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.
The researchers also generated iPSC-derived RPE from a patient with ciliopathy, a disorder that causes severe vision loss due to photoreceptor degeneration.
275, 275-284, 279 (2016) (The study, using WES had a higher diagnostic rate for Ciliopathy, metabolic and neurodevelopmental disorders, and dysmorphic syndromes.).
Mutations in OFD1 may lead to reduced levels of normal ciliopathy protein and be related to retinal degeneration.
Ramsden et al., "Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies," Biochemical Society Transactions, vol.
For the first time, this study suggested that TSC could be considered as a ciliopathy and that Shh/ciliary signalling might represent an additional therapeutic target [71].
The BBS is a syndromic ciliopathy characterized by cystic kidney disease, obesity, retinitis pigmentosa, hypogonadism, polydactyly, and intellectual and behavioral disabilities [26].
Neocortical and hippocampal volume loss in a human ciliopathy: a quantitative MRI study in Bardet-Biedl syndrome.
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.