Traits

Traits linked to ACTA2

actin alpha 2, smooth muscle

The Human Phenotype Ontology links 69 traits to ACTA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Always
Thoracic aortic aneurysm	Always
Cutis marmorata	Very often (80–99%)
Mucoid extracellular matrix accumulation	Very often (80–99%)
Spider veins	Very often (80–99%)
Abnormal left ventricular function	Often (30–79%)
Abnormality of the cerebral blood vessels	Often (30–79%)
Aortic arch aneurysm	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Ascending aortic dissection	Often (30–79%)
Brachiocephalic artery aneurysm	Often (30–79%)
Common carotid artery aneurysm	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Enlarged heart	Often (30–79%)
High blood pressure	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Pulmonary artery dilatation	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Bulging of wall of large artery located above heart	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Dilated left subclavian artery	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Premature coronary artery disease	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)
Aneurysm	Not recorded
Bulge in wall of large artery that carries blood away from heart	Not recorded
Increased blood pressure in blood vessels of lungs	Not recorded
Livedo reticularis	Not recorded
Moyamoya phenomenon	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Dysgyria	Very often (80–99%)
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Dural ectasia	Sometimes (5–29%)
Periventricular white matter hyperintensities	Not recorded

Abnormality of the eye

Trait	How often it is seen
Dilated pupil	Always
Abnormality of the iris	Often (30–79%)
Wide-set eyes	Sometimes (5–29%)
Iris flocculi	Not recorded
Retinal infarction	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Increased respiratory rate or depth of breathing	Very often (80–99%)
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Hypoperistalsis	Often (30–79%)
Intestinal malrotation	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of connective tissue	Very often (80–99%)
Abnormality of the sternum	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
High, narrow palate	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Tall stature	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ACTA2 and how often each is seen. Find out more at hpo.jax.org.

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