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Trait

Elevated plasma pyrophosphate

An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.

HPO HP:0011864

Summary

Body system
Laboratory abnormality

1 gene linked to Elevated plasma pyrophosphate

Changes in these genes cause rare conditions in which Elevated plasma pyrophosphate 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
ALPLalkaline phosphatase, biomineralization associatedNot recordedIn 2 conditions

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 circulating phosphate ion concentration

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 2026.10.16-c6eea6bf.

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