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OMIA:001003-9615 : Thrombopathia in Canis lupus familiaris

In other species: pig , cattle

Categories: Haematopoietic system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: A disorder of blood coagulation resulting from a failure of ADP release from platelets on stimulation by aggregating factors such as thromboplastin. In a thorough review, Boudreaux (2008) suggests that this disorder "should probably be referred to as CalDAG-GEFI thrombopathias or CalDAG-GEFI platelet disorders". See also entries relating to Thrombopathia, RASGRP2-related (OMIA 002433).

Species-specific description: Boudreaux et al. (2007) reported likely causal variants in Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) for Landseer, Eskimo Spitz and Basset Hound breeds. Based on NCBI information the gene name was initially listed as RASGRP1 gene in OMIA. A recent BLAST search of the published data identified that the correct gene name is RASGRP2 and information relating to the RASGRP2 variants in these breeds have been moved to: OMIA 002433-9615 : Thrombopathia, RASGRP2-related in Canis lupus familiaris [22/01/2022]

References

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.

2018 Holden, L.A., Arumilli, M., Hytönen, M.K., Hundi, S., Salojärvi, J., Brown, K.H., Lohi, H. :
Assembly and analysis of unmapped genome sequence reads reveal novel sequence and variation in dogs. Sci Rep 8:10862, 2018. Pubmed reference: 30022108 . DOI: 10.1038/s41598-018-29190-3.
2008 Boudreaux, MK. :
Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals. J Am Vet Med Assoc 233:1251-9, 1190, 2008. Pubmed reference: 18922051 . DOI: 10.2460/javma.233.8.1251.
2007 Boudreaux, MK., Catalfamo, JL., Klok, M. :
Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. Transl Res 150:81-92, 2007. Pubmed reference: 17656327 . DOI: 10.1016/j.trsl.2007.03.006.
1995 Callan, M.B., Bennett, J.S., Phillips, D.K., Haskins, M.E., Hayden, J.E., Anderson, J.G., Giger, U. :
Inherited platelet delta-storage pool disease in dogs causing severe bleeding - an animal model for a specific adp deficiency Thrombosis & Haemostasis 74:949-953, 1995.
1994 Boudreaux, M.K., Crager, C., Dillon, A.R., Stanz, K., Toiviokinnucan, M. :
Identification of an intrinsic platelet function defect in Spitz dogs. Journal of Veterinary Internal Medicine 8:93-98, 1994. Pubmed reference: 8046682 .
1993 Brooks, M., Catalfamo, J. :
Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thrombosis and Haemostasis 70:777-780, 1993. Pubmed reference: 8128434 .
1989 Patterson, W.R., Estry, D.W., Schwartz, K.A., Borchert, R.D., Bell, T.G. :
Absent platelet aggregation with normal fibrinogen binding in Basset Hound hereditary thrombopathy. Thrombosis and Haemostasis 62:1011-1015, 1989. Pubmed reference: 2512673 .
1988 Catalfamo, JL., Dodds, WJ. :
Hereditary canine thrombopathia. Vet Clin North Am Small Anim Pract 18:273-4, 1988. Pubmed reference: 3258696 .
1986 Catalfamo, JL., Raymond, SL., White, JG., Dodds, WJ. :
Defective platelet-fibrinogen interaction in hereditary canine thrombopathia. Blood 67:1568-77, 1986. Pubmed reference: 3011147 .
1985 Patterson, W.R., Padgett, G.A., Bell, T.G. :
Abnormal release of storage pool adenine nucleotides from platelets of dogs affected with basset hound hereditary thrombopathy. Thromb Res 37:61-71, 1985. Pubmed reference: 3983903 .
1979 Johnstone, IB., Lotz, F. :
An inherited platelet function defect in Basset hounds. Can Vet J 20:211-5, 1979. Pubmed reference: 509382 .

Edit History


  • Created by Frank Nicholas on 21 Jul 2011
  • Changed by Frank Nicholas on 26 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Imke Tammen2 on 22 Jan 2022