Trait
High urine homocystine levels
Clinical name: Homocystinuria
An increased concentration of homocystine in the urine.
Summary
Reference genomeGRCh38hg38
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Read the genes linked to High urine homocystine levels, and the rest of your genome, with one test.
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Get my Genome Test10 genes linked to High urine homocystine levels
Changes in these genes cause rare conditions in which High urine homocystine levels 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 |
|---|---|---|
| ABCD4ATP binding cassette subfamily D member 4 | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Always | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Very often (80–99%) | In 2 conditions |
| HCFC1host cell factor C1 | Sometimes (5–29%) | In 1 condition |
| CBScystathionine beta-synthase | Not recorded | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Not recorded | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Not recorded | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | 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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