aortic aneurysm, familial thoracic 12
MONDO:0030731Mondo
Findings
No curated finding names aortic aneurysm, familial thoracic 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
13 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.
- Aortic root aneurysmHPOHP:0002616
- 5 of 11 reported patients
- Ascending aortic dissectionHPOHP:0004933
- 3 of 11 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 3 of 11 reported patients
- ArthritisHPOHP:0001369
- 2 of 8 reported patients
- Disproportionate tall statureHPOHP:0001519
- 2 of 8 reported patients
- Chronic pulmonary obstructionHPOHP:0006510
- 1 of 8 reported patients
- High palateHPOHP:0000218
- 1 of 8 reported patients
- HypertelorismHPOHP:0000316
- 1 of 8 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 8 reported patients
- ScoliosisHPOHP:0002650
- 1 of 8 reported patients
- Spontaneous pneumothoraxHPOHP:0002108
- 1 of 8 reported patients
- Aortic regurgitationHPOHP:0001659
- 1 of 11 reported patients
Show the remaining 1
- Bicuspid aortic valveHPOHP:0001647
- 1 of 11 reported patients
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.
- THSD4HGNC:25835
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: aortic aneurysm, familial thoracic 12
- Also called
- AAT12