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Trait
Abnormal urinary amino-acid findings
Clinical name: Aminoaciduria
An increased concentration of an amino acid in the urine.
Summary
- Also called
- High urine amino acid levels, Increased levels of animo acids in urine, Hyperaminoaciduria
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/aminoaciduria.json"
page <- fromJSON(url)
page$trait$nameAbnormal urinary amino-acid findingsHP:0003355
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Read the genes linked to Abnormal urinary amino-acid findings, and the rest of your genome, with one test.
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Get my Genome Test66 genes linked to Abnormal urinary amino-acid findings
Changes in these genes cause rare conditions in which Abnormal urinary amino-acid findings 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 |
|---|---|---|
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Always | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Always | In 2 conditions |
| CTNScystinosin, lysosomal cystine transporter | Always | In 3 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| GATMglycine amidinotransferase | Always | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| NFS1NFS1 cysteine desulfurase | Always | In 1 condition |
| PET100PET100 cytochrome c oxidase chaperone | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 2 conditions |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Always | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Always | In 1 condition |
| ASLargininosuccinate lyase | Very often (80–99%) | In 2 conditions |
| CASRcalcium sensing receptor | Very often (80–99%) | In 2 conditions |
| CPS1carbamoyl-phosphate synthase 1 | Very often (80–99%) | In 1 condition |
| GCLCglutamate-cysteine ligase catalytic subunit | Very often (80–99%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Very often (80–99%) | In 1 condition |
| NEU1neuraminidase 1 | Very often (80–99%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Very often (80–99%) | In 3 conditions |
| OTCornithine transcarbamylase | Very often (80–99%) | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Very often (80–99%) | In 2 conditions |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Very often (80–99%) | In 1 condition |
| UMPSuridine monophosphate synthetase | Very often (80–99%) | In 1 condition |
| COA8cytochrome c oxidase assembly factor 8 | Often (30–79%) | In 1 condition |
| GEMIN4gem nuclear organelle associated protein 4 | Often (30–79%) | In 1 condition |
| OATornithine aminotransferase | Often (30–79%) | In 1 condition |
| TRNT1tRNA nucleotidyl transferase 1 | Often (30–79%) | In 1 condition |
| ATP7BATPase copper transporting beta | Sometimes (5–29%) | In 2 conditions |
| DDB2damage specific DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Sometimes (5–29%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| CLCN5Cl-/H+ antiporter 5 | Not recorded | In 2 conditions |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
Show 26 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| COX6B1cytochrome c oxidase subunit 6B1 | Not recorded | In 1 condition |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Not recorded | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Not recorded | In 1 condition |
| FHfumarate hydratase | Not recorded | In 1 condition |
| FTCDformimidoyltransferase cyclodeaminase | Not recorded | In 1 condition |
| GALEUDP-galactose-4-epimerase | Not recorded | In 1 condition |
| GALTgalactose-1-phosphate uridylyltransferase | Not recorded | In 1 condition |
| GLYCTKglycerate kinase | Not recorded | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Not recorded | In 1 condition |
| HNF4Ahepatocyte nuclear factor 4 alpha | Not recorded | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Not recorded | In 1 condition |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Not recorded | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Not recorded | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Not recorded | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Not recorded | In 1 condition |
| SLC19A2solute carrier family 19 member 2 | Not recorded | In 1 condition |
| SLC1A1solute carrier family 1 member 1 | Not recorded | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | Not recorded | In 1 condition |
| SLC7A7solute carrier family 7 member 7 | Not recorded | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Not recorded | In 1 condition |
| TACO1translational activator of cytochrome c oxidase I | Not recorded | In 1 condition |
| TK2thymidine kinase 2 | 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.
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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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