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primary ciliary dyskinesia 20

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 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. 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
Mondo Term and Equivalent IDs
MONDO:0014030:  primary ciliary dyskinesia 20
UMLS:C3540844: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)