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primary ciliary dyskinesia 21

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 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. Patients may 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 a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
Mondo Term and Equivalent IDs
MONDO:0014123:  primary ciliary dyskinesia 21
UMLS:C3809087: