Trait
Generalized aminoaciduria
An increased concentration of all types of amino acid in the urine.
Summary
- Also called
- Generalised aminoaciduria, Generalised nonspecific aminoaciduria, Generalized nonspecific aminoaciduria
Reference genomeGRCh38hg38
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Get my Genome Test15 genes linked to Generalized aminoaciduria
Changes in these genes cause rare conditions in which Generalized aminoaciduria 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 |
|---|---|---|
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Always | In 2 conditions |
| SLC2A2solute carrier family 2 member 2 | Always | In 2 conditions |
| SLC34A1solute carrier family 34 member 1 | Always | In 2 conditions |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Very often (80–99%) | In 1 condition |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Very often (80–99%) | In 1 condition |
| FAHfumarylacetoacetate hydrolase | Very often (80–99%) | In 1 condition |
| GATMglycine amidinotransferase | Very often (80–99%) | In 1 condition |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Very often (80–99%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| ETFAelectron transfer flavoprotein subunit alpha | Not recorded | In 1 condition |
| ETFBelectron transfer flavoprotein subunit beta | Not recorded | In 1 condition |
| ETFDHelectron transfer flavoprotein dehydrogenase | 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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