Traits

Traits linked to TNNI3

troponin I3, cardiac type

The Human Phenotype Ontology links 42 traits to TNNI3, by body system: features seen in people with one of the gene's rare conditions.

TNNI3

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Always
Enlarged and thickened heart muscle	Always
Increased left ventricular end-diastolic volume	Always
Stretched and thinned heart muscle	Always
Abnormal left ventricular function	Very often (80–99%)
Left ventricular systolic dysfunction	Very often (80–99%)
Severely reduced left ventricular ejection fraction	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Apical hypertrophic cardiomyopathy	Often (30–79%)
Interstitial cardiac fibrosis	Often (30–79%)
Left atrial enlargement	Often (30–79%)
Left ventricular hypertrophy	Often (30–79%)
Pulmonary venous hypertension	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Wolff-Parkinson-White syndrome	Often (30–79%)
Mitral regurgitation	Sometimes (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Fainting spell	Rarely (1–4%)
Stroke	Rarely (1–4%)
Restrictive cardiomyopathy	Not recorded
Sudden cardiac death	Not recorded
Ventricular hypertrophy	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 respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Often (30–79%)
Excess fluid in lungs	Sometimes (5–29%)
Peripheral edema	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)
Thromboembolism	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Cardiomyocyte hypertrophy	Always

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Ventriculomegaly	Not recorded

Constitutional symptom

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

Growth abnormality

Trait	How often it is seen
Growth delay as children	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 TNNI3 and how often each is seen. Find out more at hpo.jax.org.

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