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Hypophosphatasia

Description

Hypophosphatasia is a severe skeletal disease that is inherited and affects the Karelian Bear Dog breed.

It is a metabolic bone disease whereby there is an impairment with the skeletal mineralisation, leading to a presentation of 'skeletal hypomineralisation', movement difficulties, growth retardation and seizures.

The age of onset for this disease is around 2-10 weeks, with the initial symptoms being growth retardation, seizures, generalised muscle weakness, movement difficulties and crouched stance.

Affected puppies can usually die within a few weeks of their first symptoms, or are generally euthanised due to their severe clinical signs.

Recommended Breeding

Diseases

Hypophosphatasia

$60.00

Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Gene:

ALPL

Variant Detected:

missense variant (c.1301T > G; p.V434G)

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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