Trait
High blood ammonia levels
Clinical name: Hyperammonemia
An increased concentration of ammonia in the blood.
Summary
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test85 genes linked to High blood ammonia levels
Changes in these genes cause rare conditions in which High blood ammonia 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 |
|---|---|---|
| ACADVLacyl-CoA dehydrogenase very long chain | Always | In 2 conditions |
| ARG1arginase 1 | Always | In 2 conditions |
| ATP5F1AATP synthase F1 subunit alpha | Always | In 2 conditions |
| ATP5F1BATP synthase F1 subunit beta | Always | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Always | In 2 conditions |
| CA5Acarbonic anhydrase 5A | Always | In 1 condition |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Always | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| COQ4coenzyme Q4 | Always | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Always | In 1 condition |
| CPS1carbamoyl-phosphate synthase 1 | Always | In 2 conditions |
| CYC1cytochrome c1 | Always | In 1 condition |
| GLULglutamate-ammonia ligase | Always | In 1 condition |
| GOT2glutamic-oxaloacetic transaminase 2 | Always | In 1 condition |
| HLCSholocarboxylase synthetase | Always | In 2 conditions |
| IARS1isoleucyl-tRNA synthetase 1 | Always | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Always | In 2 conditions |
| MMAAmetabolism of cobalamin associated A | Always | In 1 condition |
| MMABmetabolism of cobalamin associated B | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Always | In 3 conditions |
| MRM2mitochondrial rRNA methyltransferase 2 | Always | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Always | In 1 condition |
| NAGSN-acetylglutamate synthase | Always | In 2 conditions |
| OTCornithine transcarbamylase | Always | In 2 conditions |
| SC5Dsterol-C5-desaturase | Always | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Always | In 2 conditions |
| SLC25A36solute carrier family 25 member 36 | Always | In 1 condition |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Always | In 1 condition |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Always | In 1 condition |
| ASLargininosuccinate lyase | Very often (80–99%) | In 2 conditions |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Very often (80–99%) | In 2 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Very often (80–99%) | In 1 condition |
| PCCApropionyl-CoA carboxylase subunit alpha | Very often (80–99%) | In 2 conditions |
| PCCBpropionyl-CoA carboxylase subunit beta | Very often (80–99%) | In 2 conditions |
| SLC25A20solute carrier family 25 member 20 | Very often (80–99%) | In 2 conditions |
| TANGO2transport and golgi organization 2 homolog | Very often (80–99%) | In 2 conditions |
| TMEM70transmembrane protein 70 | Very often (80–99%) | In 2 conditions |
| AASSaminoadipate-semialdehyde synthase | Often (30–79%) | In 2 conditions |
Show 45 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Often (30–79%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Often (30–79%) | In 1 condition |
| ACAT1acetyl-CoA acetyltransferase 1 | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Often (30–79%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Often (30–79%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Often (30–79%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Often (30–79%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Often (30–79%) | In 1 condition |
| BTDbiotinidase | Often (30–79%) | In 2 conditions |
| FBXL4F-box and leucine rich repeat protein 4 | Often (30–79%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Often (30–79%) | In 1 condition |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Often (30–79%) | In 1 condition |
| IVDisovaleryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Often (30–79%) | In 2 conditions |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Often (30–79%) | In 1 condition |
| MTO1mitochondrial tRNA translation optimization 1 | Often (30–79%) | In 1 condition |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Often (30–79%) | In 1 condition |
| RRAGCRas related GTP binding C | Often (30–79%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Often (30–79%) | In 2 conditions |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 2 conditions |
| TSFMTs translation elongation factor, mitochondrial | Often (30–79%) | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Sometimes (5–29%) | In 3 conditions |
| DLDdihydrolipoamide dehydrogenase | Sometimes (5–29%) | In 1 condition |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| HADHhydroxyacyl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sometimes (5–29%) | In 1 condition |
| SERAC1serine active site containing 1 | Sometimes (5–29%) | In 2 conditions |
| FHfumarate hydratase | Rarely (1–4%) | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Rarely (1–4%) | In 1 condition |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| SLC25A42solute carrier family 25 member 42 | Rarely (1–4%) | In 1 condition |
| ASS1argininosuccinate synthase 1 | Not recorded | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Not recorded | In 1 condition |
| NBASNBAS subunit of NRZ tethering complex | Not recorded | In 1 condition |
| PDHBpyruvate dehydrogenase E1 subunit beta | Not recorded | In 1 condition |
| RINT1RAD50 interactor 1 | Not recorded | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Not recorded | In 1 condition |
| TUFMTu translation elongation factor, mitochondrial | 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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