Požymis
High blood ammonia levels
Klinikinis pavadinimas: Hyperammonemia
An increased concentration of ammonia in the blood.
Santrauka
- Kūno sistema
- Laboratory abnormality
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to High blood ammonia levels, and the rest of your genome, with one test.
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Įsigyti savo Genome Test85 genų susiję su High blood ammonia levels
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia High blood ammonia levels. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACADVLacyl-CoA dehydrogenase very long chain | Visada | 2 ligose |
| ARG1arginase 1 | Visada | 2 ligose |
| ATP5F1AATP synthase F1 subunit alpha | Visada | 2 ligose |
| ATP5F1BATP synthase F1 subunit beta | Visada | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Visada | 2 ligose |
| CA5Acarbonic anhydrase 5A | Visada | 1 ligoje |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Visada | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| COQ4coenzyme Q4 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| CPS1carbamoyl-phosphate synthase 1 | Visada | 2 ligose |
| CYC1cytochrome c1 | Visada | 1 ligoje |
| GLULglutamate-ammonia ligase | Visada | 1 ligoje |
| GOT2glutamic-oxaloacetic transaminase 2 | Visada | 1 ligoje |
| HLCSholocarboxylase synthetase | Visada | 2 ligose |
| IARS1isoleucyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Visada | 2 ligose |
| MMAAmetabolism of cobalamin associated A | Visada | 1 ligoje |
| MMABmetabolism of cobalamin associated B | Visada | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Visada | 1 ligoje |
| MMUTmethylmalonyl-CoA mutase | Visada | 3 ligose |
| MRM2mitochondrial rRNA methyltransferase 2 | Visada | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Visada | 1 ligoje |
| NAGSN-acetylglutamate synthase | Visada | 2 ligose |
| OTCornithine transcarbamylase | Visada | 2 ligose |
| SC5Dsterol-C5-desaturase | Visada | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Visada | 2 ligose |
| SLC25A36solute carrier family 25 member 36 | Visada | 1 ligoje |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Visada | 1 ligoje |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Visada | 1 ligoje |
| ASLargininosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Labai dažnai (80–99%) | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Labai dažnai (80–99%) | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Labai dažnai (80–99%) | 2 ligose |
| PCCBpropionyl-CoA carboxylase subunit beta | Labai dažnai (80–99%) | 2 ligose |
| SLC25A20solute carrier family 25 member 20 | Labai dažnai (80–99%) | 2 ligose |
| TANGO2transport and golgi organization 2 homolog | Labai dažnai (80–99%) | 2 ligose |
| TMEM70transmembrane protein 70 | Labai dažnai (80–99%) | 2 ligose |
| AASSaminoadipate-semialdehyde synthase | Dažnai (30–79%) | 2 ligose |
Rodyti dar 45 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Dažnai (30–79%) | 1 ligoje |
| ACAT1acetyl-CoA acetyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ATP5F1EATP synthase F1 subunit epsilon | Dažnai (30–79%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Dažnai (30–79%) | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Dažnai (30–79%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Dažnai (30–79%) | 1 ligoje |
| BTDbiotinidase | Dažnai (30–79%) | 2 ligose |
| FBXL4F-box and leucine rich repeat protein 4 | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Dažnai (30–79%) | 1 ligoje |
| IVDisovaleryl-CoA dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Dažnai (30–79%) | 2 ligose |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Dažnai (30–79%) | 1 ligoje |
| MTO1mitochondrial tRNA translation optimization 1 | Dažnai (30–79%) | 1 ligoje |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Dažnai (30–79%) | 1 ligoje |
| RRAGCRas related GTP binding C | Dažnai (30–79%) | 1 ligoje |
| SLC25A13solute carrier family 25 member 13 | Dažnai (30–79%) | 2 ligose |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 2 ligose |
| TSFMTs translation elongation factor, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Kartais (5–29%) | 3 ligose |
| DLDdihydrolipoamide dehydrogenase | Kartais (5–29%) | 1 ligoje |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| HADHhydroxyacyl-CoA dehydrogenase | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Kartais (5–29%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| SERAC1serine active site containing 1 | Kartais (5–29%) | 2 ligose |
| FHfumarate hydratase | Retai (1–4 %) | 1 ligoje |
| PCK1phosphoenolpyruvate carboxykinase 1 | Retai (1–4 %) | 1 ligoje |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Retai (1–4 %) | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Retai (1–4 %) | 1 ligoje |
| ASS1argininosuccinate synthase 1 | Neužfiksuota | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Neužfiksuota | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Neužfiksuota | 1 ligoje |
| PDHBpyruvate dehydrogenase E1 subunit beta | Neužfiksuota | 1 ligoje |
| RINT1RAD50 interactor 1 | Neužfiksuota | 1 ligoje |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| TUFMTu translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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