Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

RASGRP1

Variant Detected:

c.del512-514TCT p.171Fdel

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

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

Associated Breed(s):