OMIA:000819-9615 : Prekallikrein deficiency in Canis lupus familiaris (dog)
In other species: horse
Categories: Haematopoietic system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Cross-species summary: In humans also called Fletcher factor deficiency
Molecular basis: Okawa et al. (2011) "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. The nucleotide sequence of normal canine PK cDNA was determined and compared with the genomic sequences of PK in the affected dog. The comparison revealed that the dog had a point mutation in exon 8 that leads to an amino acid substitution in the fourth apple domain of PK."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Prekallikrein (PK) is a protein that is involved in the blood clotting process. As a result, dogs with a PK deficiency experience prolonged activated partial thromboplastin Time (aPPT) (Okawa et al., 2011). This disorder is often asymptomatic in the absence of other clotting factor deficiencies (Chin et al., 1986). Classical signs of haemostatic disorders such as haematuria and prolonged bleeding or healing times after surgery have been reported but are unlikely unless there is concurrent disease (Chinn et al. 1986). Gastrointestinal bleeding has also been reported in a dog with this disorder (Otto et al., 1991).
IT thanks DVM student Eloise O’Connor, who provided the basis of this contribution in May 2023.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KLKB1||kallikrein B, plasma (Fletcher factor) 1||Canis lupus familiaris||16||NC_051820.1 (46736876..46683089)||KLKB1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|74||Shih-Tzu||Prekallikrein deficiency||KLKB1||missense||Naturally occurring variant||CanFam3.1||16||g.44501415A>T||c.988T>A||p.(F330I)||2011||20736516||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :|
|Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.|
|2011||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.|
|1991||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.|
|1986||Chinn, D.R., Dodds, W.J., Selcer, B.A. :|
|Prekallikrein deficiency in a dog. J Am Vet Med Assoc 188:69-71, 1986. Pubmed reference: 3632973.|
- Created by Frank Nicholas on 26 Oct 2010
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 27 Aug 2016
- Changed by Imke Tammen2 on 05 Jun 2023
- Changed by Imke Tammen2 on 07 Jun 2023