Trait
Hyperprolinemia
The concentration of proline in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Elevated proline concentration, Elevated proline level, Elevated proline level in blood, Increased proline concentration, Increased proline level, Increased proline level in blood, Prolinemia
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test18 genes linked to Hyperprolinemia
Changes in these genes cause rare conditions in which Hyperprolinemia 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 |
|---|---|---|
| ATP5F1AATP synthase F1 subunit alpha | Always | In 1 condition |
| CA5Acarbonic anhydrase 5A | Always | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Always | In 1 condition |
| LIPT1lipoyltransferase 1 | Always | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Always | In 1 condition |
| PRODHproline dehydrogenase 1 | Always | In 3 conditions |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | Always | In 1 condition |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Very often (80–99%) | In 2 conditions |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Often (30–79%) | In 1 condition |
| COX5Acytochrome c oxidase subunit 5A | Often (30–79%) | In 1 condition |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Often (30–79%) | In 1 condition |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Often (30–79%) | In 1 condition |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 1 condition |
| SLC36A2solute carrier family 36 member 2 | Not recorded | In 1 condition |
| SLC6A18solute carrier family 6 member 18 | Not recorded | In 1 condition |
| SLC6A19solute carrier family 6 member 19 | Not recorded | In 1 condition |
| SLC6A20solute carrier family 6 member 20 | Not recorded | 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
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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