Traits

Traits linked to PDHA2

pyruvate dehydrogenase E1 subunit alpha 2

The Human Phenotype Ontology links 9 traits to PDHA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Male infertility	Always
Abnormal sperm development	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Non-obstructive azoospermia	Very often (80–99%)
Low sperm count	Often (30–79%)
Obstructive azoospermia	Often (30–79%)
Reduced sperm motility	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Increased circulating gonadotropin level	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 PDHA2 and how often each is seen. Find out more at hpo.jax.org.

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