Spectrum of clinical diseases caused by disorders of primary cilia

Stephanie M. Ware, Meral Gunay-Aygun, Friedhelm Hildebrandt

Research output: Contribution to journalArticlepeer-review

71 Scopus citations


The ciliopathies are a category of diseases caused by disruption of the physiological functions of cilia. Ciliary dysfunction results in a broad range of phenotypes, including renal, hepatic, and pancreatic cyst formation; situs abnormalities; retinal degeneration; anosmia; cerebellar or other brain anomalies; postaxial polydactyly; bronchiectasis; and infertility. The specific clinical features are dictated by the subtype, structure, distribution, and function of the affected cilia. This review highlights the clinical variability caused by dysfunction of motile and nonmotile primary cilia and emphasizes the genetic heterogeneity and phenotypic overlap that are characteristics of these disorders. There is a need for additional research to understand the shared and unique functions of motile and non-motile cilia and the pathophysiology resulting from mutations in cilia, basal bodies, or centrosomes. Increased understanding of ciliary biology will improve the diagnosis and management of primary ciliary dyskinesia, syndromic ciliopathies, and cilia-related cystic diseases.

Original languageEnglish (US)
Pages (from-to)444-450
Number of pages7
JournalProceedings of the American Thoracic Society
Issue number5
StatePublished - Sep 15 2011
Externally publishedYes


  • Ciliopathy
  • Cyst
  • Heterotaxy
  • Nephronophthisis
  • Primary cilia

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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