Traits

Traits linked to PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2

The Human Phenotype Ontology links 50 traits to PRKAG2, by body system: features seen in people with one of the gene's rare conditions.

PRKAG2

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased myocardial glycogen content	Always
Shortened PR interval	Always
Ventricular preexcitation	Always
Wolff-Parkinson-White syndrome	Always
Cardiac failure	Very often (80–99%)
Prolonged QRS complex	Very often (80–99%)
Aborted sudden cardiac death	Often (30–79%)
Atrial flutter	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Enlarged heart	Often (30–79%)
Fainting spell	Often (30–79%)
Low blood pressure	Often (30–79%)
Paroxysmal atrial fibrillation	Often (30–79%)
Slow heartbeats	Often (30–79%)
ST segment elevation	Often (30–79%)
Biventricular hypertrophy	Sometimes (5–29%)
Fluid around heart	Sometimes (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)
Left axis deviation	Sometimes (5–29%)
Left bundle branch block	Sometimes (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
ST segment depression	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
T-wave inversion	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Ventricular preexcitation with multiple accessory pathways	Sometimes (5–29%)
Asymmetric septal hypertrophy	Not recorded
Disease of the heart muscle	Not recorded
Myofiber disarray	Not recorded
Palpitations	Not recorded
Sinus bradycardia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid around lungs	Often (30–79%)
Anasarca	Sometimes (5–29%)
Excess fluid in lungs	Sometimes (5–29%)
Peripheral edema	Sometimes (5–29%)
Low blood sugar in newborn	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
EEG with burst suppression	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Breathing difficulties	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally large tongue	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Sometimes (5–29%)

Abnormality of the genitourinary system

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

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	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 PRKAG2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test