hereditary angioedema type 3
Findings
No curated finding names hereditary angioedema type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Definition from the Mondo Disease Ontology (MONDO:0012526), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AngioedemaHPOHP:0100665
- Episodic abdominal painHPOHP:0002574
- Episodic upper airway obstructionHPOHP:0012271
- Facial edemaHPOHP:0000282
- Intestinal edemaHPOHP:0005225
- Pharyngeal edemaHPOHP:0011855
- VomitingHPOHP:0002013
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F12HGNC:3530
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
13 names
Resolves to: hereditary angioedema type 3
- Also called
- angioedema, hereditary, 3F12 hereditary angioedemaHAE 3HAE-IIIhereditary angioedema caused by mutation in F12hereditary angioneurotic edema type 3hereditary angioneurotic oedema type 3inherited estrogen-associated angioedemainherited estrogen-associated angioneurotic edemainherited estrogen-associated angioneurotic oedemainherited estrogen-dependent angioedemainherited estrogen-dependent angioneurotic edemainherited estrogen-dependent angioneurotic oedema