Trait
Porphyrinuria
Abnormally increased excretion of porphyrins in the urine.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test8 genes linked to Porphyrinuria
Changes in these genes cause rare conditions in which Porphyrinuria 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 |
|---|---|---|
| PPOXprotoporphyrinogen oxidase | Always | In 2 conditions |
| URODuroporphyrinogen decarboxylase | Always | In 1 condition |
| GATA1GATA binding protein 1 | Very often (80–99%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Very often (80–99%) | In 1 condition |
| UROSuroporphyrinogen III synthase | Very often (80–99%) | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Often (30–79%) | In 1 condition |
| SLCO1B1solute carrier organic anion transporter family member 1B1 | Often (30–79%) | In 1 condition |
| SLCO1B3solute carrier organic anion transporter family member 1B3 | Often (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.
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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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