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Trait

Blood protein disease

Clinical name: Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood.

HPO HP:0010876

Summary

Also called
Abnormal circulating protein level, Abnormality of circulating protein level
Body system
Laboratory abnormality

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

3 genes linked to Blood protein disease

Changes in these genes cause rare conditions in which Blood protein disease 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
CSF2RAcolony stimulating factor 2 receptor subunit alphaVery often (80–99%)In 1 condition
CSF2RBcolony stimulating factor 2 receptor subunit betaVery often (80–99%)In 1 condition
HLA-DRB1major histocompatibility complex, class II, DR beta 1Often (30–79%)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

Broader traits

Abnormal circulating organic compound 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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