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Prekallikrein Deficiency
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Prekallikrein Deficiency
OMIA
819
Gene Name
KLKB1
Mutation
c.988T>A
Test Type
Genetic Disease/Disorder
Details
Prekallikrein deficiency is a rare inherited blood disorder affecting dogs that increases the time for blood to clot. Does not nessesarily impact lifespan.
Details 2
Prekallikrein (PK) deficiency is an uncommon disorder in dogs... we describe a case of a dog that was referred for neurological defects and had a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects. By using human PK-deficient plasma, the dog was diagnosed to have PK deficiency. (From Okawa et al, 2011)
Published
Okawa, T., Yanase, T., Shimokawa Miyama, T., Hiraoka, H., Baba, K., Tani, K., Okuda, M., Mizuno, T. : Prekallikrein deficiency in a dog. J Vet Med Sci 73:107-11, 2011. Pubmed reference: 20736516.
Published 2
Otto, C.M., Dodds, W.J., Greene, C.E. : Factor-XII and Partial Prekallikrein Deficiencies in a Dog with Recurrent Gastrointestinal Hemorrhage Journal of the American Veterinary Medical Association 198:129-131, 1991. Pubmed reference: 1995570.
Published 3
Gharahkhani, P., O'Leary, C.A., Kyaw-Tanner, M., Sturm, R.A., Duffy, D.L. : A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Te
Body/System/Process
Blood
OMIA Url
Inheritance
AR
