aortic aneurysm, familial thoracic 4
Findings
No curated finding names aortic aneurysm, familial thoracic 4 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 MYH11 gene.
Definition from the Mondo Disease Ontology (MONDO:0007568), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Anterior cerebral artery stenosisHPOHP:0012494
- 1 of 1 reported patient
- Aortic dissectionHPOHP:0002647
- 1 of 1 reported patient
- Carotid artery stenosisHPOHP:0100546
- 1 of 1 reported patient
- Cystic medial necrosisHPOHP:0012180
- 2 of 2 reported patients
- Middle cerebral artery stenosisHPOHP:0012493
- 1 of 1 reported patient
- Posterior cerebral artery stenosisHPOHP:0012495
- 1 of 1 reported patient
- Ascending tubular aorta aneurysmHPO
Show the remaining 2
- Descending aortic dissectionHPOHP:0012499
- 2 of 16 reported patients
- Livedo reticularisHPOHP:0033505
- 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.
- MYH11HGNC:7569
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: aortic aneurysm, familial thoracic 4
- Also called
- aortic aneurysm, familial thoracic type 4familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11MYH11 familial thoracic aortic aneurysm and aortic dissection