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Trait

Elevated circulating ribitol concentration

The concentration of ribitol in the blood circulation is above the upper limit of normal.

HPO HP:0025550

Summary

Also called
Increased circulating ribitol concentration, Increased level of ribitol in serum
Body system
Laboratory abnormality

2 genes linked to Elevated circulating ribitol concentration

Changes in these genes cause rare conditions in which Elevated circulating ribitol 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
RPIAribose 5-phosphate isomerase AAlwaysIn 1 condition
TKTtransketolaseVery often (80–99%)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 circulating sugar alcohol 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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