aortic aneurysm, familial thoracic 1
MONDO:0024559Mondo
Findings
No curated finding names aortic aneurysm, familial thoracic 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 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.
- Mucoid extracellular matrix accumulationHPOHP:0200146
- Very frequent (80% to 99% of cases)
- Abnormal left ventricular functionHPOHP:0005162
- Frequent (30% to 79% of cases)
- Aortic regurgitationHPOHP:0001659
- Frequent (30% to 79% of cases)
- Aortic root aneurysmHPOHP:0002616
- Frequent (30% to 79% of cases)
- Ascending aortic dissectionHPOHP:0004933
- Frequent (30% to 79% of cases)
- CardiomegalyHPOHP:0001640
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- Coronary artery atherosclerosisHPOHP:0001677
- Frequent (30% to 79% of cases)
- Descending aortic dissectionHPOHP:0012499
- Frequent (30% to 79% of cases)
- Descending thoracic aorta aneurysmHPOHP:0004959
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- Paroxysmal dyspneaHPOHP:0012763
- Frequent (30% to 79% of cases)
Show the remaining 7
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
- Aortic dissectionHPOHP:0002647
- Occasional (5% to 29% of cases)
- Carotid artery dilatationHPOHP:0012163
- Occasional (5% to 29% of cases)
- Cutis marmorataHPOHP:0000965
- Occasional (5% to 29% of cases)
- Dilatation of the cerebral arteryHPOHP:0004944
- Occasional (5% to 29% of cases)
- Peripheral arterial stenosisHPOHP:0004950
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: aortic aneurysm, familial thoracic 1
- Also called
- AAT1