Thrombopathia – American Eskimo Dog
Kodas: H448
Short description
Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding.
General information
Thrombopathia is a group of bleeding disorders caused by defective platelets, which can result in uncontrolled bleeding. This variant of the disorder, observed in the American Eskimo Dog, is caused by a recessive mutation to the gene RASGRP2 (sometimes called CalDAG-GEFI). Related variants have been observed in the Basset Hound and Landseer.
Specifications
| Breeds | |
|---|---|
| Gene | RASGRP2 |
| Chromosome | 18 |
| Mutation | c.452dup |
| 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 have an increased susceptibility to bleeding or bruising. This can include persistent nosebleeds, bleeding from the gums, excessive bleeding from nails clipped too close, and spontaneous development of hematomas (soft, blood-filled swellings under the skin).
References
Pubmed ID: 17656327
Year published: 2007
Omia ID: 2433
Omia variant ID:
Turnaround information
- 10 working days