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Home > B. Cellular pathology > ciliopathies


Wednesday 25 October 2006

Definition: Cilia are tiny hair-like organelles attached to the cell surface. They are located on almost all polarized cell types of the human body and have been adapted as versatile tools for various cellular functions, explaining why cilia-related disorders can affect many organ systems. Several molecular mechanisms involved in cilia-related disorders have been identified that affect the structure and function of distinct cilia types.

Cilia are hair-like organelles extending from the cell surface that execute motile (e.g. respiratory cilia) and/or sensory functions (e.g. renal monocilia). The basic ultrastructure of cilia and flagella has been well established by electron microscopy.


- primary ciliary dyskinesia
- polycystic kidney diseases
- male sterility
- nephronophthisis complex-associated ciliopathies (17513324)
- Bardet-Bield syndrome
- Meckel syndrome
- Joubert syndrome


- hepatic ciliopathies
- renal ciliopathies
- retinal ciliopathies


- WDR19 (IFT144)


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- Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. PMID: 17955020

- Hildebrandt F, Zhou W. Nephronophthisis-Associated Ciliopathies.
J Am Soc Nephrol. 2007 May 18; PMID: 17513324

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- Fliegauf M, Omran H. Novel tools to unravel molecular mechanisms in cilia-related disorders. Trends Genet. 2006 May;22(5):241-5. PMID: 16564109

- Davenport JR, Yoder BK. An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am J Physiol Renal Physiol. 2005 Dec;289(6):F1159-69. PMID: 16275743

- Afzelius BA. Cilia-related diseases. J Pathol. 2004 Nov;204(4):470-7. PMID: 15495266

- Ibanez-Tallon I, Heintz N, Omran H. To beat or not to beat : roles of cilia in development and disease. Hum Mol Genet. 2003 Apr 2 ;12(Suppl 1) :R27-35. PMID : 12668594