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Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 11 |
| Mutation | c.43delA |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
General information
Primary Ciliary Dyskinesia (PCD) is a genetic disease that results in defective cilia, the cellular structures responsible for moving fluids such as mucus. PCD can cause severe and chronic airway infections and fertility problems. This variant of the disorder, found in the Alaskan Malamute, is caused by a recessive mutation to the gene NME5.
Clinical features
Affected puppies typically start presenting with symptoms of respiratory tract infections – a chronic productive cough, nasal discharge, excess mucus in the airways – several days after birth.
Additional information
References
Pubmed ID: 31479451
Year published: 2019
Omia ID: 2206
Omia variant ID: