Glanzmann Thrombasthenia Type I
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
            
            
        
        
        
            GTPs
        
    
    
General
        
            Disease Name
        
    
    
            Glanzmann Thrombasthenia Type I
            
        
        
        
            OMIA
        
    
    
            1000
            
        
        
        
            Gene Name
        
    
    
            ITGA2B
            
        
        
        
            Mutation
        
    
    
            c.1373 ins14bp
            
        
        
        
            Mutation 2
        
    
    
            c.1193G>C
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Glanzmann Thrombasthenia Great Pyrenees type (GT) is a form of thrombasthenia, a bleeding disorder caused by a disfunction in blood clotting. GT can be divided into three groups, type I, type II and variant GT. Type I is "severe", Type II "moderate" and variant being relatively normal, but with reduced function in clotting. Symptoms can include: prolonged bleeding time, severe bruising, red or purple spots under the skin, nose bleeds, bleeding gums, and pin-prick blood spots on the abdomen. Age of initial onset, from birth. Affected dog appears to be smaller than breed average. The dog will have also prolonged clotting times post-operatively.
            
        
        
        
            Details 2
        
    
    
            Glanzmann Thrombasthenia Great Pyrenees type (GT) is a form of thrombasthenia, a bleeding disorder caused by a disfunction in blood clotting. GT can be divided into three groups, type I, type II and variant GT. Type I is characterized by severe quantitative deficiency, type II by moderate quantitative deficiency and variant by relatively normal quantity but reduced function.The disorder in dogs is characterized by prolonged bleeding time and formation of hematomas at sites of injury. Other manifestation of the disease includes purpura, epistaxis, gingival hemorrhae, petechial hemorrhages on buccal mucosa and sporadically on the abdomen. Epistaxis and melena are common among affected dogs. Age of initial onset, from birth. Affected dog appears to be smaller than breed average. The dog will have also prolonged clotting times post-operatively.
            
        
        
        
            Published
        
    
    
            Lipscomb, D.L., Bourne, C., Boudreaux, M.K. : Two genetic defects in alpha(IIb) are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: A 14-base insertion in exon 13 and a splicing defect of intron 13 Veterinary Pathology 37:581-588, 2000. Pubmed reference: 11105947.
            
        
        
        
            Published 2
        
    
    
            Boudreaux, M.K., Catalfamo, J.L. : Molecular and genetic basis for thrombasthenic thrombopathia in otterhounds American Journal of Veterinary Research 62:1797-1804, 2001. Pubmed reference: 11703027.
            
        
        
        
            Body/System/Process
        
    
    
            Blood
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Great Pyrenees
            
        
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