Hypophosphatasia
Kodas: H636
Short description
Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth.
General information
Hypophosphatasia is a severe skeletal disorder which affects the Karelian Bear Dog, and causes poor bone structure and retarded growth. It is caused by a recessive mutation to the gene ALPL.
Specifications
| Breeds | |
|---|---|
| Gene | ALPL |
| Chromosome | 2 |
| Mutation | c.1301T>G |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | HPP |
Clinical features
Affected puppies start falling behind in growth with respect to their littermates by the age of 7 to 10 weeks. They also have difficulty moving, with muscle weakness, a crouched stance and deformed bones and joints. The affected dog may die within the first 10 weeks of life; if not, euthanasia on humane grounds may be necessary due to the severity of symptoms.
References
Pubmed ID: 30700765
Year published: 2019
Omia ID: 2162
Omia variant ID:
Turnaround information
- 10 working days