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Trait

Copper deficiency

Clinical name: Decreased circulating copper concentration

The concentration of copper cation in the blood circulation is below the lower limit of normal.

HPO HP:0011967

Summary

Also called
Decreased copper cation concentration, Decreased copper cation level, Decreased copper cation level in blood, Hypocupremia, Reduced copper cation concentration, Reduced copper cation level, Reduced copper cation level in blood, Reduced serum copper
Body system
Laboratory abnormality

8 genes linked to Copper deficiency

Changes in these genes cause rare conditions in which Copper deficiency is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
AP1B1adaptor related protein complex 1 subunit beta 1AlwaysIn 2 conditions
ATP6AP1ATPase H+ transporting accessory protein 1AlwaysIn 1 condition
ATP7AATPase copper transporting alphaAlwaysIn 1 condition
COG2component of oligomeric golgi complex 2AlwaysIn 2 conditions
SLC33A1solute carrier family 33 member 1AlwaysIn 1 condition
VMA12vacuolar ATPase assembly factor VMA12AlwaysIn 1 condition
AP1S1adaptor related protein complex 1 subunit sigma 1Often (30–79%)In 1 condition
CPceruloplasminOften (30–79%)In 1 condition

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.

Broader traits

Abnormal copper levels

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

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