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Prekallikrein Deficiency
Breed: Shih Tzu
Generic Phene Data
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
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Prekallikrein Deficiency
Gene Name
KLKB1
Mutation
c.988T>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Prekallikrein Deficiency
GTP Disease Synonym
Fletcher Factor Deficiency
Gene Name
KLKB1
Mutation
c.988T>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Affected animals (n/PKD, PKD/PKD) should not be used for breeding. Development of cysts in the kidney ( chronic renal failure in middle-age to old animals)
Inheritance
AD
This test is outsourced to:
Orivet
FCI Number
208
GTP Breed
Shih Tzu
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Mutation Comment
g.44501415A>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Prekallikrein Deficiency
GTP Disease Synonym
Fletcher Factor Deficiency
Gene Name
KLKB1
Mutation
c.988T>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Affected animals (n/PKD, PKD/PKD) should not be used for breeding. Development of cysts in the kidney ( chronic renal failure in middle-age to old animals)
Inheritance
AD
FCI Number
208
GTP Breed
Shih Tzu
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Prekallikrein Deficiency
GTP Disease Synonym
Fletcher Factor Deficiency
Gene Name
KLKB1
Mutation
c.988T>A
Nature of test
mutation test
FCI Number
208
GTP Breed
Shih Tzu
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Prekallikrein Deficiency
GTP Disease Synonym
Fletcher Factor Deficiency
Gene Name
KLKB1
Mutation
c.988T>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Affected animals (n/PKD, PKD/PKD) should not be used for breeding. Development of cysts in the kidney ( chronic renal failure in middle-age to old animals)
Inheritance
AD
FCI Number
208
GTP Breed
Shih Tzu
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
KLKB1
Mutation
c.988T>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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