OMIA:000573-9823 : Ciliary dyskinesia, primary, generic in Sus scrofa
In other species: domestic cat , dog
Categories: Respiratory system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 244400 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: Congenital defect in functioning of the cilia, which are minute hair-like processes that extend from cell surfaces, beating ryhthmically to move fluid or mucous over the surface. The abnormal functioning results in bronchiectasis (chronic dilation of the bronchi and bronchioles, with associated infection) and sinusitis (inflammation of one or more of the paranasal sinuses). It is also associated with dextrocardia (location of the heart in the right side of the thorax, rather than the usual left side). This phene was renamed in OMIA from 'Kartagener syndrome' to 'Ciliary dyskinesia, primary, generic' [3/6/2022].
Species-specific description: This disorder appears to be a good animal model for the disorder in humans.
Inheritance: There is too little data to enable any conclusion as to mode of inheritance. In humans, the disorder show definite single-locus inheritance.
|1993||Roperto, F., Galati, P., Rossacco, P. :|
|Immotile Cilia Syndrome in Pigs - A Model for Human Disease American Journal of Pathology 143:643-647, 1993. Pubmed reference: 8342607 .|
- Created by Frank Nicholas on 06 Sep 2005