Tunnus
High blood ammonia levels
Kliiniline nimetus: Hyperammonemia
An increased concentration of ammonia in the blood.
Kokkuvõte
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to High blood ammonia levels, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test85 geeni on seotud tunnusega High blood ammonia levels
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb High blood ammonia levels. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACADVLacyl-CoA dehydrogenase very long chain | Alati | Esineb 2 haiguses |
| ARG1arginase 1 | Alati | Esineb 2 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Alati | Esineb 2 haiguses |
| ATP5F1BATP synthase F1 subunit beta | Alati | Esineb 1 haiguses |
| ATP5F1DATP synthase F1 subunit delta | Alati | Esineb 2 haiguses |
| CA5Acarbonic anhydrase 5A | Alati | Esineb 1 haiguses |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Alati | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| CPS1carbamoyl-phosphate synthase 1 | Alati | Esineb 2 haiguses |
| CYC1cytochrome c1 | Alati | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Alati | Esineb 1 haiguses |
| GOT2glutamic-oxaloacetic transaminase 2 | Alati | Esineb 1 haiguses |
| HLCSholocarboxylase synthetase | Alati | Esineb 2 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alati | Esineb 2 haiguses |
| MMAAmetabolism of cobalamin associated A | Alati | Esineb 1 haiguses |
| MMABmetabolism of cobalamin associated B | Alati | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Alati | Esineb 3 haiguses |
| MRM2mitochondrial rRNA methyltransferase 2 | Alati | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Alati | Esineb 1 haiguses |
| NAGSN-acetylglutamate synthase | Alati | Esineb 2 haiguses |
| OTCornithine transcarbamylase | Alati | Esineb 2 haiguses |
| SC5Dsterol-C5-desaturase | Alati | Esineb 1 haiguses |
| SLC25A15solute carrier family 25 member 15 | Alati | Esineb 2 haiguses |
| SLC25A36solute carrier family 25 member 36 | Alati | Esineb 1 haiguses |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Alati | Esineb 1 haiguses |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Alati | Esineb 1 haiguses |
| ASLargininosuccinate lyase | Väga sageli (80–99%) | Esineb 2 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Väga sageli (80–99%) | Esineb 2 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC25A20solute carrier family 25 member 20 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TANGO2transport and golgi organization 2 homolog | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM70transmembrane protein 70 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AASSaminoadipate-semialdehyde synthase | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 45 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ACADMacyl-CoA dehydrogenase medium chain | Sageli (30–79%) | Esineb 1 haiguses |
| ACAT1acetyl-CoA acetyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1EATP synthase F1 subunit epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5MKATP synthase membrane subunit k | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sageli (30–79%) | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BTDbiotinidase | Sageli (30–79%) | Esineb 2 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| IVDisovaleryl-CoA dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MTO1mitochondrial tRNA translation optimization 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| RRAGCRas related GTP binding C | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A13solute carrier family 25 member 13 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 2 haiguses |
| TSFMTs translation elongation factor, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| DLDdihydrolipoamide dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHhydroxyacyl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SERAC1serine active site containing 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FHfumarate hydratase | Harva (1–4%) | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| SLC25A42solute carrier family 25 member 42 | Harva (1–4%) | Esineb 1 haiguses |
| ASS1argininosuccinate synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| CPT1Acarnitine palmitoyltransferase 1A | Pole registreeritud | Esineb 1 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Pole registreeritud | Esineb 1 haiguses |
| PDHBpyruvate dehydrogenase E1 subunit beta | Pole registreeritud | Esineb 1 haiguses |
| RINT1RAD50 interactor 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC22A5solute carrier family 22 member 5 | Pole registreeritud | Esineb 1 haiguses |
| TUFMTu translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast