Traits

Traits linked to PPA2

inorganic pyrophosphatase 2

The Human Phenotype Ontology links 10 traits to PPA2, 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
Sudden cardiac death	Always
Slow heartbeats	Often (30–79%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Myocardial fibrosis	Sometimes (5–29%)
Cardiac failure	Not recorded
Inflammation of heart muscle	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

Abnormality of the nervous system

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

Constitutional symptom

Trait	How often it is seen
Chest pain	Not recorded

Laboratory abnormality

Trait	How often it is seen
Metabolic acidosis	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 PPA2 and how often each is seen. Find out more at hpo.jax.org.

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