Traits

Traits linked to AMPD3

adenosine monophosphate deaminase 3

The Human Phenotype Ontology links 7 traits to AMPD3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Exercise-induced muscle fatigue	Very often (80–99%)
Muscle spasm	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Very often (80–99%)
Muscle ache	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Elevated creatine kinase after exercise	Not recorded
Higher than normal levels of lactate in blood	Not recorded

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Very often (80–99%)

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 AMPD3 and how often each is seen. Find out more at hpo.jax.org.

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