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GENATLAS PHENOTYPE
last update : 18/11/2006
Symbol HAE3
Location 5q35.3
Name angioedema, hereditary, type III
Other name(s)
  • HAE with normal c1 inhibitor concentration and function
  • hereditary angioedema with normal c1 inhibitor activity
  • Corresponding gene F12
    Main clinical features
  • episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts, observed exclusively in women, where it appears to be correlated with conditions of high estrogen levels┐for example, pregnancy or the use of oral contraceptives
  • Genetic determination not applicable
    Function/system disorder defense and immunity
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function Thr328Lys leading to a threoninelysine amino acid change in the proline-rich domain of factor XII, caused HAE type III
    Remark(s) predictive testing in presymptomatic females will help prepare carriers for the recognition and treatment of potential episodes of angioedema and may influence individual decisions to avoid conditions of high estrogen levels┐for example, the use of oral contraceptives