Traits

Traits linked to MAT2A

methionine adenosyltransferase 2A

The Human Phenotype Ontology links 41 traits to MAT2A, 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
Cutis marmorata	Very often (80–99%)
Mucoid extracellular matrix accumulation	Very often (80–99%)
Abnormal left ventricular function	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Ascending aortic dissection	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%)
Abdominal aortic aneurysm	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%)
Carotid artery dilatation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	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 eye

Trait	How often it is seen
Abnormality of the iris	Often (30–79%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Dural ectasia	Sometimes (5–29%)

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 MAT2A and how often each is seen. Find out more at hpo.jax.org.

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