Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1)

Eur J Hum Genet. 2017 Oct;25(10):e1-e4. doi: 10.1038/ejhg.2017.104. Epub 2017 Jul 5.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angioedemas, Hereditary / diagnosis*
  • Angioedemas, Hereditary / epidemiology
  • Angioedemas, Hereditary / genetics*
  • Factor XII / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Life Style
  • Male
  • Mutation
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Factor XII