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primary ciliary dyskinesia 14

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 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.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
Mondo Term and Equivalent IDs
MONDO:0013434:  primary ciliary dyskinesia 14
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)