Traits

Traits linked to DSG2

desmoglein 2

The Human Phenotype Ontology links 29 traits to DSG2, 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
Increased left ventricular end-diastolic volume	Always
Left bundle branch block	Always
Severely reduced left ventricular ejection fraction	Always
Stretched and thinned heart muscle	Always
Ventricular arrhythmia	Always
Left ventricular systolic dysfunction	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Epsilon wave	Often (30–79%)
Extra heart beat	Often (30–79%)
Palpitations	Often (30–79%)
Prolonged PR interval	Often (30–79%)
Ventricular tachycardia	Often (30–79%)
Complete right bundle branch block	Sometimes (5–29%)
Increased circulating troponin I concentration	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Right ventricular cardiomyopathy	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
Breathing difficulty	Always
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Chest pain	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Often (30–79%)
Elevated circulating CK-MB concentration	Sometimes (5–29%)

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 DSG2 and how often each is seen. Find out more at hpo.jax.org.

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