Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 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 outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
Mondo Term and Equivalent IDs
MONDO:0014216: primary ciliary dyskinesia 28