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Trait

Abnormal circulating metabolite concentration

An abnormal level of an analyte measured in the blood.

HPO HP:0032180

Summary

Body system
Laboratory abnormality

9 genes linked to Abnormal circulating metabolite concentration

Changes in these genes cause rare conditions in which Abnormal circulating metabolite concentration 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
CMPK2cytidine/uridine monophosphate kinase 2Not recordedIn 1 condition
JAM2junctional adhesion molecule 2Not recordedIn 1 condition
MYORGmyogenesis regulating glycosidaseNot recordedIn 1 condition
NAA60N-alpha-acetyltransferase 60, NatF catalytic subunitNot recordedIn 1 condition
PDGFBplatelet derived growth factor subunit BNot recordedIn 1 condition
PDGFRBplatelet derived growth factor receptor betaNot recordedIn 1 condition
RRP12ribosomal RNA processing 12 homologNot recordedIn 1 condition
SLC20A2solute carrier family 20 member 2Not recordedIn 1 condition
XPR1xenotropic and polytropic retrovirus receptor 1Not recordedIn 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.

Narrower traits

Broader traits

Laboratory abnormality

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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