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GENATLAS PHENOTYPE
last update : 30/06/2006
Symbol F7
Location 13q34
Name factor VII deficiency
Other name(s) hypoproconvertinemia
Corresponding gene F7
related resource Factor VII Mutation Database
Main clinical features
  • a variable bleeding tendency from easy bruising, epistaxis, modest or severe postoperative bleeding to life-treatening intracranial hemorrhages
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name coagulation factor VII, serum protein conversion accelerator (F7)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function G331S, results in a steric hindrance of macromolecular substrate binding, leading to a loss of FVIIa enzymatic activity