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Tunnus
Increased circulating pyruvate concentration
The concentration of pyruvate in the blood circulation is above the upper limit of normal.
Kokkuvõte
- Teised nimetused
- Increased serum pyruvate, Increased serum pyruvic acid
- Kehasüsteem
- Laboratory abnormality
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Read the genes linked to Increased circulating pyruvate concentration, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test65 geeni on seotud tunnusega Increased circulating pyruvate concentration
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Increased circulating pyruvate concentration. 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alati | Esineb 2 haiguses |
| COX16cytochrome c oxidase assembly factor COX16 | Alati | Esineb 1 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Alati | Esineb 1 haiguses |
| COX6A2cytochrome c oxidase subunit 6A2 | Alati | Esineb 1 haiguses |
| DLDdihydrolipoamide dehydrogenase | Alati | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alati | Esineb 2 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Alati | Esineb 2 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alati | Esineb 2 haiguses |
| PNPLA8patatin like domain 8, phospholipase A2 | Alati | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alati | Esineb 1 haiguses |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Alati | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Väga sageli (80–99%) | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 25 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LIPT2lipoyl(octanoyl) transferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PITRM1pitrilysin metallopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A26solute carrier family 25 member 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACAT2acetyl-CoA acetyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Pole registreeritud | Esineb 1 haiguses |
| LDHAlactate dehydrogenase A | Pole registreeritud | Esineb 1 haiguses |
| MPC1mitochondrial pyruvate carrier 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Pole registreeritud | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Pole registreeritud | Esineb 1 haiguses |
| PCpyruvate carboxylase | Pole registreeritud | Esineb 1 haiguses |
| PDHXpyruvate dehydrogenase complex component X | Pole registreeritud | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | 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.
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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast