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hereditary angioedema type 3; hereditary angioneurotic edema type 3 (HANE3)
Epidemiology:
- occurs exclusively in women
Genetics:
2) associated with defects in coagulation factor XII
Clinical manifestations:
- episodic local subcutaneous edema, & submucosal edema involving the upper respiratory & gastrointestinal tracts
- attacks precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives)
Laboratory:
- C1-esterase inhibitor assay: normal (distinguishes type 3)
General
hereditary angioedema; hereditary angioneurotic edema (HANE, HAE)
Database Correlations
OMIM 610618
References
OMIM :accession 610618