U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 28

Primary ciliary dyskinesia 28

Synonyms
CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-28 (CILD28) is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]

Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD28, CT140, DNAAF13, HEL-S-268, HSD-3.8, SP75, TPIS, SPAG1
    Summary: sperm associated antigen 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.