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GTR Home > Conditions/Phenotypes > Primary ciliary dyskinesia 9

Primary ciliary dyskinesia 9

Synonyms
CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS; Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). [from OMIM]

Available tests

67 tests are in the database for this condition.

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Clinical tests (67 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD9, DIC2, oda6, DNAI2
    Summary: dynein axonemal intermediate chain 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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