Angioedema, hereditary, 3

Preferred Label : Angioedema, hereditary, 3;

Symbol : HAE3;

CISMeF acronym : HAE3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function; Hae with normal c1 inhibitor concentration and function; Hereditary angioedema with normal c1 inhibitor activity; Estrogen-related hae; Estrogen-sensitive hae; Angioedema, hereditary, type III;

Description : Hereditary angioedema type III is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. HAE III occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). It differs from HAE types I and II (106100) in that both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coagulation factor XII gene (F12, 610619.0006);

Prefixed ID : #610618;

Details

Origin ID

610618;

UMLS CUI

C1857728;

Automatic exact mappings (from CISMeF team)
- F12 wt Allele [NCIt concept]
- Hereditary angioedema type III [MedDRA LLT]
Broader ORDO disease(s)
- Hereditary angioedema [ORDO Disease]
- Non-histaminic angioedema [ORDO Disease]
Currated CISMeF NLP mapping
- F12-related hereditary angioedema with normal C1Inh [ORDO Disease]
- Hereditary angioedema type III [ICD-11 More detail]
- hereditary angioedema type III [Disease (Nov.)]
- hereditary angioedema type III [MeSH Descriptor]
- hereditary angioedema type III [MeSH concept]
DO Cross reference
- hereditary angioedema [DO Concept]
Genes related to phenotype
- Coagulation factor XII [OMIM gene]
HPO term(s)
- Angioedema [HPO term]
- Autosomal dominant inheritance [HPO term]
- Episodic abdominal pain [HPO term]
- Episodic upper airway obstruction [HPO term]
- Facial edema [HPO term]
- Intestinal edema [HPO term]
- Pharyngeal edema [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- F12-related hereditary angioedema with normal C1Inh [ORDO Disease]
- Hereditary angioedema [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- F12-related hereditary angioedema with normal C1Inh [ORDO Disease]
- Hereditary angioedema type III [MedDRA LLT]
- hereditary angioedema type III [MeSH Descriptor]
- hereditary angioedema type III [MeSH concept]
- hereditary angioedema type III [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hereditary angioedema [ORDO Disease]

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