aortic aneurysm, familial thoracic 6
Findings
No curated finding names aortic aneurysm, familial thoracic 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012730), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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
- 46 of 102 reported patients
- Premature coronary artery atherosclerosisHPOHP:0005181
- 26 of 127 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 18 of 92 reported patients
- Descending aortic dissectionHPOHP:0012499
- 13 of 92 reported patients
- Aortic aneurysmHPOHP:0004942
- Iris flocculiHPOHP:0500007
- Livedo reticularisHPOHP:0033505
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.
- ACTA2HGNC:130
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: aortic aneurysm, familial thoracic 6
- Also called
- ACTA2 familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic type 6familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2