Global Variome shared LOVD

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Phenotype #0000354873 Individual ID 00469721 Associated disease HAE3 Phenotype details Initially associated with HAE-nC1INH with recurrent swelling of the face, trunk, and extremities, with no identifiable trigger, worsening over time, occasionally accompanied by itching and wheals, not resolved by several months of oral antihistamines and diuretics. Prophylaxis with lanadelumab with no recurrence of symptoms. Identified in 2026 as factor 12 deficiency. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 20y Age/Onset - Phenotype/Onset - Protein - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2025-11-19 14:19:29 +01:00 (CET) Date last edited 2026-06-09 11:26:15 +02:00 (CEST)

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