ciliopathy
cilia-related disease

A wide variety of symptoms are potential clinical features of ciliopathy.

It has been suggested that juvenile myoclonic epilepsy may be a ciliopathy.

A ciliopathy is a disease that affects the cilia (sensing cells within the body).

Once identified, these characteristics thus describe a set of hallmarks of a ciliopathy.

The MKS1 gene has been explicitly identified as a ciliopathy.

It is a form of ciliopathy.

While it is not fully characterized as such, yet, conorenal syndrome seems to be an uncharacterized form of ciliopathy.

Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.

Thus, orofaciodigital syndrome is a ciliopathy.

Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.

Although very early in development, gene therapy has restored a sense of smell in mice with congenital anosmia when caused by ciliopathy.

A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

This diverse group of genetic syndromes and genetic diseases are now understood to arise due to malfunctioning cilia, and the term "ciliopathy" is now used to indicate their common origin.

"The phenotypic parameters that define a ciliopathy may be used to both recognize the cellular basis of a number of genetic disorders and to facilitate the diagnosis and treatment of some diseases of unknown etiology".

It can be caused by chronic meningitis and neurosyphilis that would increase intracranial pressure over a long period of time, and in some cases by ciliopathy including ciliopathy due to primary ciliary dyskinesia (Kartagener syndrome, Afzelius' syndrome or Siewert's syndrome).