Trait
High blood cystine levels
Clinical name: Hypercystinemia
The concentration of cystine in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Increased blood cystine concentration, Elevated cystine concentration, Elevated cystine level, Elevated cystine level in blood, Increased cystine concentration, Increased cystine level, Increased cystine level in blood
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test1 gene linked to High blood cystine levels
Changes in these genes cause rare conditions in which High blood cystine 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 |
|---|---|---|
| AASSaminoadipate-semialdehyde synthase | Sometimes (5–29%) | 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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