Traits

Traits linked to MYH11

myosin heavy chain 11

The Human Phenotype Ontology links 97 traits to MYH11, by body system: features seen in people with one of the gene's rare conditions.

MYH11

Abnormality of the cardiovascular system

Trait	How often it is seen
Anterior cerebral artery stenosis	Always
Bidirectional shunt	Always
Cystic medial necrosis	Always
increased pulmonary artery pressure	Always
Middle cerebral artery stenosis	Always
Narrowing of carotid artery	Always
Patent ductus arteriosus	Always
Posterior cerebral artery stenosis	Always
Tear in inner wall of large artery that carries blood away from heart	Always
Thoracic aortic aneurysm	Always
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%)
Bulge in wall of root of large artery that carries blood away from heart	Often (30–79%)
Bulging of wall of large artery located above heart	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Descending thoracic aorta aneurysm	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%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Heart tumor	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Stroke	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Always
Ileal atresia	Always
Microcolon	Always
Peritonitis	Always
Prune belly	Always
Hypoperistalsis	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Abnormality of the gastrointestinal tract	Often (30–79%)
Acid reflux	Often (30–79%)
Inflammation of the esophagus	Often (30–79%)
Intestinal malrotation	Often (30–79%)
Poor swallowing	Often (30–79%)
Stomach hernia	Often (30–79%)
Barrett esophagus	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Ineffective esophageal peristalsis	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intestinal obstruction	Sometimes (5–29%)
Intestinal pseudo-obstruction	Sometimes (5–29%)
Megaduodenum	Sometimes (5–29%)
Narrowing of esophagus due to inflammation and scar tissue	Sometimes (5–29%)
Necrotizing enterocolitis	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Volvulus	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent urine output	Always
Fetal megacystis	Always
Megacystis	Always
Pyelonephritis	Always
Renal cortical hyperechogenicity	Always
Hydroureter	Often (30–79%)
Multicystic kidney dysplasia	Often (30–79%)
Undescended testes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Bronchomalacia	Always
Poorly developed lungs	Always
Respiratory failure requiring assisted ventilation	Always
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)

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%)
Abnormal iris pigmentation	Not recorded

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 prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Always
High levels of amniotic fluid	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Always
Infection in blood stream	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

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 MYH11 and how often each is seen. Find out more at hpo.jax.org.

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