Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.
Uniprot Description A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node.
Mondo Term and Equivalent IDs
MONDO:0010517: ciliary dyskinesia, primary, 36, X-linked