You are using an outdated browser. Please upgrade your browser to improve your experience.

primary ciliary dyskinesia 5

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.
Uniprot Description An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus.
Mondo Term and Equivalent IDs
MONDO:0012088:  primary ciliary dyskinesia 5
MESH:C563886: 
UMLS:C1837615: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found