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.