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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 43

Ciliary dyskinesia, primary, 43

Synonyms
CILIARY DYSKINESIA, PRIMARY, 43, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD43, FKHL13, HFH-4, HFH4, FOXJ1
    Summary: forkhead box J1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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