Træk
High blood ammonia levels
Klinisk navn: Hyperammonemia
An increased concentration of ammonia in the blood.
Resumé
- Kropssystem
- Laboratory abnormality
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test85 gener knyttet til High blood ammonia levels
Ændringer i disse gener forårsager sjældne tilstande, hvor High blood ammonia levels ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACADVLacyl-CoA dehydrogenase very long chain | Altid | I 2 tilstande |
| ARG1arginase 1 | Altid | I 2 tilstande |
| ATP5F1AATP synthase F1 subunit alpha | Altid | I 2 tilstande |
| ATP5F1BATP synthase F1 subunit beta | Altid | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Altid | I 2 tilstande |
| CA5Acarbonic anhydrase 5A | Altid | I 1 tilstand |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Altid | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| COQ4coenzyme Q4 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| CPS1carbamoyl-phosphate synthase 1 | Altid | I 2 tilstande |
| CYC1cytochrome c1 | Altid | I 1 tilstand |
| GLULglutamate-ammonia ligase | Altid | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Altid | I 1 tilstand |
| HLCSholocarboxylase synthetase | Altid | I 2 tilstande |
| IARS1isoleucyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 2 tilstande |
| MMAAmetabolism of cobalamin associated A | Altid | I 1 tilstand |
| MMABmetabolism of cobalamin associated B | Altid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Altid | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Altid | I 3 tilstande |
| MRM2mitochondrial rRNA methyltransferase 2 | Altid | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Altid | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Altid | I 2 tilstande |
| OTCornithine transcarbamylase | Altid | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Altid | I 2 tilstande |
| SLC25A36solute carrier family 25 member 36 | Altid | I 1 tilstand |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Altid | I 1 tilstand |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Altid | I 1 tilstand |
| ASLargininosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Meget ofte (80–99 %) | I 2 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Meget ofte (80–99 %) | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| PCCBpropionyl-CoA carboxylase subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| SLC25A20solute carrier family 25 member 20 | Meget ofte (80–99 %) | I 2 tilstande |
| TANGO2transport and golgi organization 2 homolog | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM70transmembrane protein 70 | Meget ofte (80–99 %) | I 2 tilstande |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 2 tilstande |
Vis 45 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Ofte (30–79 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| BTDbiotinidase | Ofte (30–79 %) | I 2 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| IVDisovaleryl-CoA dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 1 tilstand |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Ofte (30–79 %) | I 1 tilstand |
| RRAGCRas related GTP binding C | Ofte (30–79 %) | I 1 tilstand |
| SLC25A13solute carrier family 25 member 13 | Ofte (30–79 %) | I 2 tilstande |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 2 tilstande |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Nogle gange (5–29 %) | I 3 tilstande |
| DLDdihydrolipoamide dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| SERAC1serine active site containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FHfumarate hydratase | Sjældent (1–4%) | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Sjældent (1–4%) | I 1 tilstand |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Sjældent (1–4%) | I 1 tilstand |
| ASS1argininosuccinate synthase 1 | Ikke registreret | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Ikke registreret | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Ikke registreret | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Ikke registreret | I 1 tilstand |
| RINT1RAD50 interactor 1 | Ikke registreret | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger