Volume 25 Issue 10, October 2017

1. Name of the disease (synonyms)

Hereditary angioedema type III (HAE-III)

Estrogen-related hereditary angioedema

Hereditary angioedema with factor XII mutations (FXII-HAE)

Hereditary angioedema of unknown origin (U-HAE)

2. OMIM# of the disease

610618

3. Name of the analysed genes or DNA/chromosome segments:

Coagulation factor XII; Hageman factor; F12; chromosome 5q.35.2-q35.3

4. OMIM# of the gene(s)

610619

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the F12 gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for, ⊠ risk assessment in relatives.