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primary ciliary dyskinesia 16

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.
Uniprot Description 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.
Disease Ontology Description A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
Mondo Term and Equivalent IDs
MONDO:0013525:  primary ciliary dyskinesia 16
UMLS:C3151460: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)