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ciliary dyskinesia, primary, 36, X-linked

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 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
UMLS:C4478372: 
UMLS:CN240511: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found