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primary ciliary dyskinesia 6
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.
Uniprot Description 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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.