OMIA:001003-9615 : Thrombopathia in Canis lupus familiaris (dog) |
In other species: pig , taurine cattle
Categories: Haematopoietic system phene
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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]
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001003-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. | |
| 2012 | Boudreaux, M.K. : |
| Inherited platelet disorders. J Vet Emerg Crit Care (San Antonio) 22:30-41, 2012. Pubmed reference: 22316339. DOI: 10.1111/j.1476-4431.2011.00702.x. | |
| 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. | |
| 2001 | Callan, M.B., Walton, R., Jezyk, P.F., Giger, U. : |
| Thrombopathies causing bleeding in a boxer and mixed-breed dog. J Am Anim Hosp Assoc 37:244-250, 2001. Pubmed reference: 11361116. DOI: 10.5326/15473317-37-3-244. | |
| 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. J Vet Intern Med 8:93-8, 1994. Pubmed reference: 8046682. DOI: 10.1111/j.1939-1676.1994.tb03204.x. | |
| 1993 | Brooks, M., Catalfamo, J. : |
| Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost 70:777-80, 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. Thromb Haemost 62:1011-5, 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. DOI: 10.1016/0049-3848(85)90033-7. | |
| 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