What is a ciliopathy?

What is a ciliopathy?

‘Ciliopathies’ are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.

How many ciliopathies are there?

There are currently at least 190 known ciliopathy disease genes causing defects of the primary cilia (Table 1), and mutations in many of the same genes can cause strikingly different phenotypes.

What causes ciliopathy?

Ciliopathies may be framed as a genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium–centrosome complex. The phenotypes due to the altered proteins vary from cystic kidney disease and blindness to neurologic phenotypes, obesity, and diabetes.

Is Nephronophthisis a ciliopathy?

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most frequent genetic cause for end-stage kidney disease (ESKD) in the first 3 decades of life1–4.

How do you treat ciliopathy?

Currently, there are no approved drugs available for treating most ciliopathies. In fact, this is the case for most of the rare genetic disorders involving functional abnormalities through genetic mutation, and gene therapy is usually the only treatment available.

Is Joubert syndrome a ciliopathy?

Joubert syndrome (JS; OMIM PS213300) is a predominantly autosomal recessive ciliopathy condition characterized by a distinctive cerebellar and brainstem defect on cranial MRI known as the “molar tooth sign” because of its resemblance to the cross-section of a tooth on axial imaging [64, 65].

Which of the following is a ciliopathy?

The ciliopathies include autosomal recessive and dominant polycystic kidney disease, Bardet-Biedl syndrome, Meckel syndrome (MKS), Joubert’s syndrome, nephrophthisis, Senior-Loken syndrome, Jeune’s syndrome, oro-facial-digital syndrome type, Ellis-van Creveld syndrome, and Alstrom syndrome.

What are the effects of ciliopathies?

Patients usually present with symptoms of polyuria and polydipsia, secondary enuresis and anaemia. Presentation may occur during infancy, but more typically in late childhood with progressive renal failure manifesting during early puberty.

What is Alports?

What is Alport syndrome? Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli.

Can Nephronophthisis be cured?

Nephronophthisis is inherited in an autosomal recessive manner. At present, there is no treatment for preventing progression to end-stage renal failure.

What is Joubert Type B?

Joubert syndrome is a rare genetic disorder that occurs when parts of the brain don’t develop properly. It affects each child differently, from minor to severe symptoms. It can cause problems with intellectual development, motor skills, eyesight, and kidney or liver function.

What are ciliopathies used for?

Ciliopathies. “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” cause.

Do ciliopathies overlap with a particular phenotype?

A particular phenotype can overlap “considerably with several conditions (ciliopathies) in which primary cilia are also implicated in pathogenicity. One emerging aspect is the wide spectrum of ciliopathy gene mutations found within different diseases.”

What are craniofacial ciliopathies?

With further evaluation of the 102 conditions Baker and Beales put forth, it was found that 30% of ciliopathies are defined primarily by craniofacial phenotypes (Zaghloul and Brugmann, 2011 ). Of these “craniofacial ciliopathies,” 70% display defects in the facial midline, with a high frequency in hypertelorism.

What are the signs and symptoms of skeletal ciliopathies?

Common clinical features of skeletal ciliopathies include shortened ribs and a small or narrow thorax that gives rise to respiratory disturbances of variable severity postnatally, short extremities, short stature, brachydactyly, and polydactyly. Craniofacial clefts can also be found in some short-rib polydactyly syndromes (SRPSs) and OFD cases.