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Trait

Elevated circulating desmosterol concentration

Concentration of desmosterol in the blood circulation above the upper limit of normal.

HPO HP:0034937

Summary

Body system
Laboratory abnormality

1 gene linked to Elevated circulating desmosterol concentration

Changes in these genes cause rare conditions in which Elevated circulating desmosterol 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
DHCR2424-dehydrocholesterol reductaseAlwaysIn 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

Abnormality of cholesterol metabolism

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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