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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 45

Ciliary dyskinesia, primary, 45

Synonyms
CILIARY DYSKINESIA, PRIMARY, 45, WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by Thomas et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD45, TPARM, TTC12
    Summary: tetratricopeptide repeat domain 12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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