ciliary dyskinesia—primary—12

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ciliary dyskinesia—primary—122016-11-25T12:07:47+00:00

ciliary dyskinesia—primary—12

CELL BIOLOGY, MOLECULAR MEDICINE

Definition A disorder (OMIM: 612650) characterised by defective ciliary motility, resulting in respiratory infections, leading to chronic inflammation and recurrent bronchiectasis–due to defects in respiratory cilia; reduced male fertility–due to abnormalities of sperm tails; half of patients also have situs inversus*–due to dysfunction of monocilia at the embryonic node and randomisation of left-right body asymmetry.

*Primary ciliary dyskinesia with situs inversus is known as Kartagener syndrome. 

Molecular pathology Defects of RSPH9, which encodes a protein component of the radial spoke head in motile cilia and flagella, cause ciliary dyskinesia—primary—type 12.  

Synonyms Ciliary dyskinesia—primary—without situs inversus, primary ciliary dyskinesia type 12

References http://www.uniprot.org/uniprot/Q9H1X1

http://www.omim.org/entry/612650

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