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primary ciliary dyskinesia

MONDO:0016575

Also known as: Kartagener syndrome, Kartagener's syndrome, PCD, Dextrocardia bronchiectasis and sinusitis, Dextrocardia-bronchiectasis-sinusitis syndrome

MONDO:
MONDO:0016575
Orphanet:
244
Rare disease78 associated genes

Description

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

Associated genes

+68 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.