aortic aneurysm, familial thoracic 11, susceptibility to
MONDO:0044301Mondo
Findings
No curated finding names aortic aneurysm, familial thoracic 11, susceptibility to yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Ascending aortic dissectionHPOHP:0004933
- 7 of 10 reported patients
- Descending aortic dissectionHPOHP:0012499
- 1 of 10 reported patients
- Aortic aneurysmHPOHP:0004942
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.
- FOXE3HGNC:3808
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of