Factor VII deficiency (F7)
Factor VII deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene F7. Pathogenic variants in this gene reduce coagulation factor 7 protein activity which can result in excessive bleeding. Symptoms may present at any age. Clinical presentation may range from asymptomatic to life-threatening gastrointestinal or central nervous system (CNS) hemorrhages. Most cases present with mucosal bleedings (i.e. nosebleeds or gum bleeding), while females may present with menorrhagia (heavy or prolonged menstrual bleeding). Early death due to intracranial bleeding has been reported in severe cases, suggesting that life expectancy depends on clinical severity.
For information about carrier frequency and residual risk, please see the residual risk table.