Trait

Abnormal circulating histidine concentration

Any deviation from the normal concentration of histidine in the blood circulation.

Also called: Abnormal histidine level, Abnormality of histidine metabolism
Body system: Laboratory abnormality

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3 genes linked to Abnormal circulating histidine concentration

Changes in these genes cause rare conditions in which Abnormal circulating histidine 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.

Gene	How often it is seen	Conditions
FTCDformimidoyltransferase cyclodeaminase	Very often (80–99%)	In 1 condition
UROC1urocanate hydratase 1	Very often (80–99%)	In 1 condition
PNPOpyridoxamine 5'-phosphate oxidase	Sometimes (5–29%)	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.

Narrower traits

High blood histidine level1 gene

Broader traits

Abnormal circulating aromatic amino acid 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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