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Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.972T>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | HNPK |
Informations générales
Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds. It is caused by a genetic defect that disrupts normal keratinization of the nasal skin, leading to an abnormal accumulation of keratin on the nose. The disorder is caused by a mutation in the SUV39H2 gene and is inherited in an autosomal recessive manner.
Caractéristiques cliniques
Affected dogs usually begin to show signs between 6 and 12 months of age, including a dry, rough, and thickened nasal surface (nosepad) with excessive scaling and crust formation. The nose may develop painful cracks or fissures, which can result in inflammation, redness, and occasional secondary infections. Changes in nose colour and sensitivity may also occur. Although HNPK does not affect overall health or life expectancy, it is a chronic, lifelong condition that can cause ongoing discomfort without appropriate management.
Additional Information
This patented test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
Références
Pubmed ID: 24098150
Year published: 2013
Omia ID: 1373
Omia variant ID: 86