Table 2.

Genes of Interest in the Differential Diagnosis of Complete Plasminogen Activator Inhibitor 1 Deficiency

Gene(s)DisorderMOI
ANO6
GP1BA
GP1BB
GP9
ITGA2B
ITGB3 		Platelet function defects (OMIM 177820, 187800, 231200, & 262890)AD
AR
F13A1
F13B 		Factor XIII deficiency (OMIM 613225 & 613235)AR
F2 Factor II (prothrombin) deficiency (OMIM 613679)AR
F5 Factor V deficiency (OMIM 227400)AR
East Texas bleeding disorder 1AD
F10 Factor X deficiency (OMIM 227600)AR
PLAU Quebec platelet disorder (OMIM 601709)AD
SERPINF2 Alpha-2-antiplasmin deficiency 2 (OMIM 262850)AR
VWF von Willebrand Disease (VWD)AD
AR

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; PLI = plasmin inhibitor

1.
2.

The moderate bleeding seen in alpha-2-antiplasmin deficiency is not characteristically associated with injury, surgery, or dental procedures.

From: Complete Plasminogen Activator Inhibitor 1 Deficiency

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