Orphanet: F12 related hereditary angioedema with normal C1Inh

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F12-related hereditary angioedema with normal C1Inh

Disease definition

Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


Classification level: Subtype of disorder
  • Synonym(s):
    • F12-related HAE with normal C1 inhibitor
    • HAE 3
    • HAE-III
    • Hereditary angioedema type 3
    • Hereditary angioneurotic edema type 3
    • Inherited estrogen-associated angioedema
    • Inherited estrogen-associated angioneurotic edema
    • Inherited estrogen-dependent angioedema
    • Inherited estrogen-dependent angioneurotic edema
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: D84.1
  • OMIM: 610618
  • UMLS: C1857728  C1960459
  • MeSH: D056828
  • GARD: -
  • MedDRA: -

Detailed information

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