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Details on Person factor VIII deficiency

Class:IdDisease:9661959
_displayNamefactor VIII deficiency
_timestamp2019-09-19 22:47:58
created[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
definitionA X-linked recessive disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
identifier12134
namefactor VIII deficiency
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymCongenital factor VIII disorder
Subhemophilia
Hemophilia A
(disease)[Pathway:9651496] OBSOLETE_Defects of contact activation system (CAS) and kallikrein/kinin system (KKS)_REPLACEMENT_9769726_9946127 [Homo sapiens]
[FailedReaction:9661980] F8 variant is not secreted [Homo sapiens]
[Pathway:9662001] Defective factor VIII causes hemophilia A [Homo sapiens]
[FailedReaction:9665809] F8 variant does not bind von Willebrand factor [Homo sapiens]
[FailedReaction:9666383] F8 variant is not cleaved by thrombin [Homo sapiens]
[FailedReaction:9668148] F8 variant is not sulfonated at Y1699 [Homo sapiens]
[FailedReaction:9668365] FVIIIa variant:FIXa does not convert FX to the active FXa [Homo sapiens]
[Reaction:9670049] Defects in F8 A1 domain accelerate dissociation of the A2 domain [Homo sapiens]
[Reaction:9670054] Defects in F8 A2 domain accelerate dissociation of the A2 domain [Homo sapiens]
[FailedReaction:9670189] F8 variant does not bind the cell membrane [Homo sapiens]
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No pathways have been reviewed or authored by factor VIII deficiency (9661959)