A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies,or ciliary function.

Ciliopathy disorders that affect the function or structure of cilia, which are hair-like structures found on the surface of many types of cells in the human body. 

Cilia have important roles in various biological processes, including the movement of fluids across cell surfaces, the detection of signals in the environment, and the development and function of organs.

Primary cilia play important roles in chemosensation, mechanosensation, and thermosensation.

A number of common observable characteristics of mammalian genetic disorders and diseases are caused by ciliary dysgenesis and dysfunction.

Cilia are implicated in a wide variety of human genetic diseases by numerous proteins involved in mammalian disease localized to the basal bodies and cilia.

Cilia coordinate a large number of cellular signaling pathways, sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation.

Ciliopathies can be caused by mutations in genes that are involved in the formation, maintenance, or function of cilia. 

These mutations can lead to a wide range of symptoms and health disorders, depending on the specific type of ciliopathy and which organs are affected. 

Ciliopathies include:polycystic kidney disease, Bardet-Biedl syndrome, primary ciliary dyskinesia, and retinal degeneration.

Symptoms of ciliopathies can include: kidney or liver disease, vision and hearing problems, breathing difficulties, developmental delays, and skeletal abnormalities. 

There is currently no cure for ciliopathies.

Treatment options focus on managing symptoms and preventing complications. 

Abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem.

Ciliopathies are a clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.

Ciliopathies are usually involve proteins that localize to motile and/or immotile primary cilia or centrosomes.

It affect ciliary function through proteolytic cleavage of ciliary proteins.

A wide variety of symptoms and potential clinical features of ciliopathy:

Dandy–Walker malformation (cerebellar vermis hypoplasia, usually with hydrocephalus)

Agenesis of the corpus callosum

Situs inversus

Posterior encephalocele

Polycystic kidneys

Postaxial polydactyly

Liver disease

Retinitis pigmentosa

Intellectual disability

Phenotypes sometimes associated with ciliopathies can include:


Breathing abnormalities

Cerebellar vermis hypoplasia



Eye movement abnormalities


Hypoplasia of the corpus callosum



Cognitive impairment/defects



Respiratory dysfunction

Renal cystic disease

Retinal degeneration

Sensorineural deafness

Spina bifida

The motile cilium is a nanomachine composed of perhaps over 600 proteins in molecular complexes, many of which also function independently.

Cilia function as mechano- or chemosensors and as a cellular global positioning system to detect changes in the surrounding environment.

 Ciliary signaling plays a role in the initiation of cellular replacement after cell damage.

Cilia play sensory role mediating specific signaling cues, and a secretory role in which a soluble protein is released to have an effect downstream of the fluid flow in epithelial cells, and can mediate fluid flow directly in the case of motile cilia..

Primary cilia in the retina play a role in transferring nourishment to the non-vascularized rod and cone cells from the pigment epithelial vascularized cells several micrometres behind the surface of the retina.

Signal transduction pathways involved with cilia include the Hedgehog signaling pathway and the Wnt signaling pathway.

Dysfunctional ciliated epithelial cellular dysfunction. can lead to:

Chemosensation abnormalities

Defective thermosensation or mechanosensation

Cellular motility dysfunction 

Issues with displacement of extracellular fluid

Paracrine signal transduction abnormalities

In organisms of normal health, cilia are critical for:




In two of the diseases caused by malfunctioning cilia, Meckel–Gruber syndrome and Bardet–Biedl syndrome, patients who carry mutations in genes associated with both diseases have unique symptoms that are not seen in either condition alone.

The genes linked to the two different conditions interact with each other during development.

A particular phenotype can overlap, with several conditions in which primary cilia are also implicated in pathogenicity.

List of ciliopathies: 

Alström syndrome

Asphyxiating thoracic dysplasia (Jeune syndrome

Bardet–Biedl syndrome

Ellis–van Creveld syndrome

Joubert syndrome


Leber congenital amaurosis

McKusick–Kaufman syndrome

Meckel–Gruber syndrome


Orofaciodigital syndrome 

Polycystic kidney disease

Primary ciliary dyskinesia (Kartagener syndrome)

Senior–Løken syndrome-eye

Sensenbrenner syndrome (cranioectodermal dysplasia)

Short rib–polydactyly syndrome

Likely ciliopathies:

Acrocallosal syndrome

Acromelic frontonasal dysostosis

Arima syndrome

Biemond syndrome

COACH syndrome

Conorenal syndrome

Greig cephalopolysyndactyly syndrome

Hydrolethalus syndrome

Johanson–Blizzard syndrome

Mohr syndrome (oral-facial-digital syndrome type 2)

Neu–Laxova syndrome

Opitz G/BBB syndrome

Pallister–Hall syndrome

Papillorenal syndrome

Renal–hepatic–pancreatic dysplasia

Varadi–Papp syndrome (oral-facial-digital syndrome type 

There are many other possible ciliopathies.





Leave a Reply

Your email address will not be published. Required fields are marked *