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primary ciliary dyskinesia 1 | RareConnect | RareConnect.io

/primary ciliary dyskinesia

/primary ciliary dyskinesia 1

primary ciliary dyskinesia 1

Rare Disease

MONDO:0009484

Also Known As

CILD1DNAI1 primary ciliary dyskinesiaciliary dyskinesia, primary, type 1primary ciliary dyskinesia 1primary ciliary dyskinesia 1 with or without situs inversusprimary ciliary dyskinesia caused by mutation in DNAI1primary ciliary dyskinesia type 1Kartagener syndromePCDPolynesian bronchiectasisSiewert syndromeciliary dyskinesia, primary, 1ciliary dyskinesia, primary, 1, with or without situs inversusdextrocardia, bronchiectasis, and sinusitisimmotile cilia syndrome

Definition

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:244400 ↗

Orphanet

Orphanet:98861 ↗

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ciliary dyskinesia with transposition of ciliary microtubules

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ciliary dyskinesia with defective radial spokes

MONDO:0009449

ciliary dyskinesia with excessively long cilia

MONDO:0009450

Stromme syndrome

MONDO:0009477

ciliary dyskinesia, primary, 36, X-linked

MONDO:0010517

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