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GTR Home > Conditions/Phenotypes > Ciliary dyskinesia, primary, 40

Ciliary dyskinesia, primary, 40

Synonyms
CILIARY DYSKINESIA, PRIMARY, 40, WITH OR WITHOUT SITUS INVERSUS

Summary

Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018). For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD40, DNAH17L, DNEL1, DYH9, Dnahc9, HL-20, HL20, DNAH9
    Summary: dynein axonemal heavy chain 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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