aortic aneurysm, familial thoracic 9
Findings
No curated finding names aortic aneurysm, familial thoracic 9 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 MFAP5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014514), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Dural ectasiaHPOHP:0100775
- 3 of 4 reported patients
- Aortic tortuosityHPOHP:0006687
- 2 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- ArachnodactylyHPOHP:0001166
- 2 of 6 reported patients
- Atrial fibrillationHPOHP:0005110
- 2 of 8 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 8 reported patients
- Ascending aortic dissectionHPOHP:0004933
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.
- MFAP5HGNC:29673
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
3 names
Resolves to: aortic aneurysm, familial thoracic 9
- Also called
- aortic aneurysm, familial thoracic type 9familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5MFAP5 familial thoracic aortic aneurysm and aortic dissection