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H443

Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds.

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Spesifikasjoner

Breeds

,

Gene

Chromosome

2

Mutation

c.972T>G

Mode of Inheritance

Automatisk resessiv

Organ

Specimen

Svaber, EDTA blod, heparinblod, sæd, vev

Also known as

HNPK

Generell informasjon

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.

Kliniske egenskaper

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.

Tilleggsinformasjon

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.

Referanser

Pubmed ID: 24098150

Year published: 2013

Omia ID: 1373

Omia variant ID: 86

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