Prekallikrein Deficiency (KLK)
Kodas: H439
Short description
Prekallikrein deficiency (PK or KLK) is an uncommon disorder in dogs caused by a mutation in the KLKB1 gene.
General information
Prekallikrein deficiency (PK or KLK) is an uncommon disorder in dogs caused by a mutation in the KLKB1 gene.
Specifications
| Breeds | |
|---|---|
| Gene | KLKB1 |
| Chromosome | 16 |
| Mutation | c.988T>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Symptoms include a suspicion of neurological defects and a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects.
Additional information
PK and FXII deficiency are known to interact with each other, leading to acceleration of contact phase activation. Which indicates that simultaneous deficiency of both factors could cause the clinical symptoms, even when sole deficiency of FXII or PK does not show any symptoms.
References
Pubmed ID: 20736516
Year published: 2011
Omia ID: 819
Omia variant ID:
Turnaround information
- 10 working days