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aortic aneurysm, familial thoracic 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic aneurysm, familial thoracic 6

MONDO:0012730

Also known as:ACTA2 familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic type 6familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2

Overview

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.

GeneticsAutosomal dominant · ACTA2 (chr 10)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Ascending aortic dissection; and sometimes findings: Ascending tubular aorta aneurysm, Descending aortic dissection, and Premature coronary artery atherosclerosis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Thoracic aortic aneurysm, Descending aortic dissection, Ascending aortic dissection

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ACTA2 encodes actin alpha 2, smooth muscle (377 aa). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells Highest expression in Artery Tibial (7,732 TPM) and Artery Aorta (5,736 TPM).

Aortic aneurysm, familial thoracic 6 is associated with mutations in the ACTA2 gene on chromosome 10.

The ACTA2 protein participates in ACTA2 gene expression is stimulated by NOTCH1, NOTCH2 and NOTCH4, Mammary myoepithelial progenitor cell produces mature myoepithelial cell, and Mammary stem cell produces myoepithelial/basal progenitor pathways.

ACTA2 is classified as a druggable target (Clinically Actionable category) with score 1.6.

56 pathogenic variants reported in ACTA2 in ClinVar, including hotspot variants 263578 and 199675.

Diagnosis

Genetic testing for ACTA2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aortic aneurysm, familial thoracic 6.

2 publications have been identified in PubMed for aortic aneurysm, familial thoracic 6. Research spans Case Report / Case Series (100%).

Recent Publications

Karmilkar K (2025). [PMID: 40400813](https://pubmed.ncbi.nlm.nih.gov/40400813/). *Cureus*. [Case Report / Case Series]
Jiang A (2024). [PMID: 39267980](https://pubmed.ncbi.nlm.nih.gov/39267980/). *Frontiers in medicine*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611788

GARD

Genetic and Rare Diseases Info Center

GARD:15527

Questions for Your Care Team

→Should I pursue genetic testing for ACTA2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

aortic aneurysm, familial thoracic 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

Endovascular exclusion of an aortobronchial fistula 38 years following a blunt thoracic aortic injury.

Salmonella Prostatic Abscess in A Patient with Decompensated Cirrhosis of Liver with Descending Thoracic Aortic Aneurysm: A Rare Clinical Convergence.

aortic aneurysm, familial thoracic 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

Endovascular exclusion of an aortobronchial fistula 38 years following a blunt thoracic aortic injury.

Salmonella Prostatic Abscess in A Patient with Decompensated Cirrhosis of Liver with Descending Thoracic Aortic Aneurysm: A Rare Clinical Convergence.