Traits

Traits linked to MYBPC3

myosin binding protein C3

The Human Phenotype Ontology links 41 traits to MYBPC3, 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
Cardiac failure	Always
Enlarged and thickened heart muscle	Always
Enlarged heart	Always
Left ventricular noncompaction	Always
Myofiber disarray	Always
Left ventricular systolic dysfunction	Very often (80–99%)
Stretched and thinned heart muscle	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
First degree atrioventricular block	Often (30–79%)
Muscular ventricular septal defect	Often (30–79%)
Reduced left ventricular ejection fraction	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Ventricular hypertrophy	Often (30–79%)
Ventricular septal hypertrophy	Often (30–79%)
Fainting spell	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Increased left ventricular end-diastolic volume	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Complete right bundle branch block	Not recorded
Fluid around heart	Not recorded
Heart stops beating	Not recorded
Interruption of electrical communication between upper and lower chambers of heart	Not recorded
Left bundle branch block	Not recorded
Mini stroke	Not recorded
Ventricular fibrillation	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)
Breathing difficulty	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Often (30–79%)
Enlarged liver	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Chest pain	Not recorded

Laboratory abnormality

Trait	How often it is seen
Excess fluid in lungs	Often (30–79%)
Fluid retention	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	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 MYBPC3 and how often each is seen. Find out more at hpo.jax.org.

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