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Primary ciliary dyskinesia 3

Synonyms
Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia

Summary

Primary ciliary dyskinesia (PCD; CILD) 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 (summary by Afzelius, 1976; El Zein et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400). [from OMIM]

Available tests

75 tests are in the database for this condition.

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Clinical tests (75 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CILD3, DNAHC5, HL1, KTGNR, PCD, DNAH5
    Summary: dynein axonemal heavy chain 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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