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Scott Syndrome (German Shepherd Type)
Test Overview:
A rare defect seen in the platelet procoagulant activity. Clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery.
Category:
Haemolymphatic - Associated with the blood and lymph
Gene:
ANO6
Variant Detected:
g.8912219 G>A
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Brooks, M.B., Catalfamo, J.L., MacNguyen, R., Tim, D., Fancher, S., McCardle, J.A. : A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost 13:2240-52, 2015. Pubmed reference: 26414452. DOI: 10.1111/jth.13157.
Jandrey, K.E., Norris, J.W., Tucker, M., Brooks, M.B. : (2012)
Clinical characterization of canine platelet procoagulant deficiency (Scott syndrome). J Vet Intern Med 26:1402-7, 2012. Pubmed reference: 23061683. DOI: 10.1111/j.1939-1676.2012.01012.x.
Associated Breed(s):
German Shepherd Dog, Mixed Breed, White Swiss Shepherd,
