OMIM :
56
Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
(615500)
MalaCards based summary :
Ciliary Dyskinesia, Primary, 26, also known as
cild26, is related to
kartagener syndrome and
primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 26 is
CFAP298 (Cilia And Flagella Associated Protein 298). Related phenotypes are
situs inversus totalis and
recurrent otitis media
Disease Ontology :
12
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
UniProtKB/Swiss-Prot :
73
Ciliary dyskinesia, primary, 26: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
