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Mutations in the C14orf104 are associated with primary ciliary dyskinesia.
Rhinorrhea can also be the side effect of several genetic disorders, such as primary ciliary dyskinesia.
Primary ciliary dyskinesia occurs in approximately 1 in 25 of Totalis.
Certain genetic conditions can also cause bronchiectasis, including primary ciliary dyskinesia and immunodeficiency syndromes.
Primary ciliary dyskinesia.
Low levels have been found in primary ciliary dyskinesia, bronchopulmonary dysplasia, and pulmonary arterial hypertension.
Primary ciliary dyskinesia, which affects the mobility of cilia in the lungs, aids in the development of the disease.
About 25% of individuals with situs inversus have an underlying condition known as primary ciliary dyskinesia (PCD).
Some common ciliopathies include primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration.
Two other types, primary ciliary dyskinesia, and biliary dyskinesia, are caused by specific kinds of ineffective movement of the body, and are not movement disorders.
Genetic mutations compromising the proper functioning of cilia, ciliopathies, can cause chronic disorders such as primary ciliary dyskinesia (PCD), nephronophthisis or Senior-Loken syndrome.
Of interest, there is an association of primary ciliary dyskinesia with left-right anatomic abnormalities such as situs inversus (a combination of findings known as Kartagener's syndrome) and other heterotaxic defects.
Mutations in this gene have been implicated in causing primary ciliary dyskinesia (PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (PCD with situs inversus totalis).
Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia (also known as Kartagener Syndrome), Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.
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).
Diseases that prevent the cilia from working properly, such as Kartagener syndrome and immotile cilia syndrome.
Its use has been largely supplanted by immunohistochemistry, but it is still in common use for certain tasks, including the diagnosis of kidney disease and the identification of immotile cilia syndrome among many others.
Mutations in this gene have been implicated in causing primary ciliary dyskinesia (PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (PCD with situs inversus totalis).