aortic aneurysm, familial thoracic 7
MONDO:0013418Mondo
Findings
No curated finding names aortic aneurysm, familial thoracic 7 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
5 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 17 reported patients · Adult onset
- 3 of 5 reported patients
- Aortic ruptureHPOHP:0031649
- 2 of 5 reported patients
- Descending aortic dissectionHPOHP:0012499
- 2 of 17 reported patients · Adult onset
- Sudden deathHPOHP:0001699
- 1 of 17 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.
- MYLKHGNC:7590
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2016
Where it sits
Other names
1 name
Resolves to: aortic aneurysm, familial thoracic 7
- Also called
- aortic aneurysm, familial thoracic type 7