Von Willebrand Disease Type 3 – Shetland Sheepdog
Kodas: H167
Short description
Von Willebrand Disease Type 3 (vWD3) in Shetland Sheepdogs is considered the most severe form of Von Willebrand Disease.
General information
Von Willebrand Disease Type 3 (vWD3) in Shetland Sheepdogs is considered the most severe form of Von Willebrand Disease. This variant is caused by a specific autosomal recessive mutation in the von Willebrand factor (vWF) gene. This mutation leads to a significant reduction or complete absence of the functional von Willebrand Factor (vWF). vWF is vital for normal blood clotting, as it plays a key role in platelet adhesion and stabilising a clotting protein known as Factor VIII. As a result, this mutation can cause serious and spontaneous bleeding episodes, even in the absence of trauma.
Specifications
| Breeds | |
|---|---|
| Gene | VWF |
| Chromosome | 27 |
| Mutation | c.738delT |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | vWD III |
Clinical features
Dogs affected by vWD3 exhibit symptoms related to impaired blood clotting. These may include spontaneous bleeding, excessive bleeding following minor injuries, frequent nosebleeds, or bleeding from the gums (particularly noticeable during teething). Bruising is also common, and in more severe cases, affected dogs may suffer from dangerous internal bleeding or prolonged haemorrhaging after surgery or trauma. The disease is present from birth (congenital), although clinical signs may only become apparent when the dog undergoes trauma, surgery (such as spaying or neutering), or any situation that challenges the clotting system.
References
Pubmed ID: 39435623
Year published: 2024
Omia ID: 1058
Omia variant ID:
Turnaround information
- 10 working days