P2RY12 Receptor Platelet Disorder
Kodas: H450
Short description
The P2RY12 receptor platelet disorder in the Greater Swiss Mountain Dog is a hereditary disease that leaves affected dogs at risk of severe bleeding under surgery or if injured.
General information
The P2RY12 receptor platelet disorder in the Greater Swiss Mountain Dog is a hereditary disease that leaves affected dogs at risk of severe bleeding under surgery or if injured. It is caused by a recessive mutation to the P2RY12 gene, and is described as fairly widespread in the breed.
Specifications
| Breeds | |
|---|---|
| Gene | P2RY12 |
| Chromosome | 23 |
| Mutation | c.516_518del |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected dogs appear mostly normal, with no unusual symptoms. However, experiencing trauma, undergoing surgery or treatment with platelet inhibitors can result in excessive and potentially life-threatening bleeding.
References
Pubmed ID: 21554368
Year published: 2011
Omia ID: 1564
Omia variant ID:
Turnaround information
- 10 working days