Preferred Label : Ciliary dyskinesia with defective radial spokes;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Immotile cilia syndrome due to defective radial spokes;
Description : Sturgess et al. (1979) studied 3 sibs with chronic respiratory disease. Electron microscopy
of respiratory tract cilia showed a 'new' abnormality of the ciliary axoneme, namely,
lack of the radial spokes. The cilia showed an eccentric central pair of tubules,
but otherwise had a normal central sheath, outer-doublet microtubules, nexin links
and dynein arms. The cilia were immotile and mucociliary clearance was completely
lacking, as in the Kartagener syndrome, but normal in the parents and a clinically
unaffected sib. The sperm of the affected male sib showed morphologic changes identical
to those in respiratory cilia and were immotile. See CILD1 (244400). *FIELD* RF 1.
Sturgess, J. M.; Chao, J.; Wong, J.; Aspin, N.; Turner, J. A.: Cilia with defective
radial spokes: a cause of human respiratory disease. New Eng. J. Med. 300: 53-56,
1979. *FIELD* CS Respiratory: Chronic respiratory disease; Immotile cilia; Absent
mucociliary clearance;
Inheritance : Autosomal recessive;
Prefixed ID : %242670;
Origin ID : 242670;
UMLS CUI : C0340035;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
