Thrombopathia (Finnish Spitz Type)

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

RASGRP1

Variant Detected:

c.455insA S266

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.

Associated Breed(s):

Finnish Spitz, German Spitz , Japanese Spitz,