Thrombopathia – Landseer
Kodas: H449
Short description
Thrombopathia is a blood disorder caused by a dysfunction of platelets, which are responsible for blood clotting.
General information
Thrombopathia is a blood disorder caused by a dysfunction of platelets, which are responsible for blood clotting. This variant of the disease, which is found in the Landseer, is caused by a recessive mutation to the gene RASGRP2. Related variants have been observed in the Basset Hound and the American Eskimo Dog.
Specifications
| Breeds | |
|---|---|
| Gene | RASGRP2 |
| Chromosome | 18 |
| Mutation | c.982C>T |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) |
Clinical features
Affected dogs experience epistaxis (nosebleeds), bleeding of the gums, and petechiation on mucous membranes and skin.
References
Pubmed ID: 17656327
Year published: 2007
Omia ID: 2433
Omia variant ID:
Turnaround information
- 10 working days