angioedema, hereditary, 5
MONDO:0030293Mondo
Findings
No curated finding names angioedema, hereditary, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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
- 4 of 4 reported patients · Juvenile onset
- Edema of the dorsum of handsHPOHP:0007514
- Facial edemaHPOHP:0000282
- Nail bed hemorrhageHPOHP:0030254
- Nailfold capillary tortuosityHPOHP:0033250
- Swollen lipHPOHP:0031244
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.
- ANGPT1HGNC:484
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: angioedema, hereditary, 5
- Also called
- HAE5