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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 26

Primary ciliary dyskinesia 26

Synonyms
CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 26, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 26, WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C21orf48, C21orf59, CILD26, DNAAF16, FBB18, Kur, CFAP298
    Summary: cilia and flagella associated protein 298

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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