ciliary dyskinesia, primary, type 6

(redirected from CILD6)

ciliary dyskinesia, primary, type 6

An autosomal recessive disorder (OMIM:610852) characterised by axonemal defects of motile cilia, resulting in recurrent respiratory infections leading to chronic inflammation and bronchiectasis, due to defects in the respiratory cilia, and reduced fertility due to defects of sperm tails. Half of the patients have Kartagener syndrome, in which the ciliary dyskinesia seen in adult patients is accompanied by situs inversus, due to dysfunction of monocilia at the embryonic node and randomisation of left-right body asymmetry.

Molecular pathology
Defects of NME8, which encodes a protein involved in ciliary function, cause primary ciliary dyskinesia type 6.