aortic aneurysm, familial thoracic 10
Findings
No curated finding names aortic aneurysm, familial thoracic 10 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 LOX gene.
Definition from the Mondo Disease Ontology (MONDO:0014950), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
17 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 5 reported patients
- Dural ectasiaHPOHP:0100775
- Occasional (5% to 29% of cases)
- Ascending tubular aorta aneurysmHPOHP:0004970
- 3 of 10 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 3 of 10 reported patients
- Aortic arch aneurysmHPOHP:0005113
- 1 of 5 reported patients
- Ascending aortic dissectionHPOHP:0004933
- 2 of 10 reported patients
- Thoracic aortic aneurysmHPO
Show the remaining 5
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 10 reported patients
- Mitral regurgitationHPOHP:0001653
- 1 of 10 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 10 reported patients
- ScoliosisHPOHP:0002650
- 1 of 10 reported patients
- Striae distensaeHPOHP:0001065
- 1 of 10 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.
- LOXHGNC:6664
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: aortic aneurysm, familial thoracic 10
- Also called
- AAT10aortic aneurysm, familial thoracic type 10familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOXLOX familial thoracic aortic aneurysm and aortic dissection