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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 49, without situs inversus

Ciliary dyskinesia, primary, 49, without situs inversus

Summary

Primary ciliary dyskinesia-49 (CILD49) without situs inversus is an autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Affected males also show infertility due to defective flagellar morphology and function. Nasal nitric oxide (NO) levels are normal and situs abnormalities are not observed (Sha et al., 2020; Biebach et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C1orf222, CILD49, KIAA1751, CFAP74
    Summary: cilia and flagella associated protein 74

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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