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Piirre
Increased lactate in body
Kliininen nimi: Lactic acidosis
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Yhteenveto
- Tunnetaan myös nimellä
- Hyperlacticacidemia, Lactic acidemia, Lacticacidemia, Lacticacidosis
- Elimistön järjestelmä
- Laboratory abnormality
Increased lactate in bodyHP:0003128
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Read the genes linked to Increased lactate in body, and the rest of your genome, with one test.
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Tilaa Genome Test202 geeniä, jotka liittyvät piirteeseen Increased lactate in body
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Increased lactate in body esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Aina | 2 sairaudessa |
| AGKacylglycerol kinase | Aina | 2 sairaudessa |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Aina | 2 sairaudessa |
| BOLA3bolA family member 3 | Aina | 1 sairaudessa |
| COA6cytochrome c oxidase assembly factor 6 | Aina | 1 sairaudessa |
| COQ9coenzyme Q9 | Aina | 1 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Aina | 2 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 2 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Aina | 2 sairaudessa |
| COX8Acytochrome c oxidase subunit 8A | Aina | 1 sairaudessa |
| COXFA4cytochrome c oxidase associated subunit FA4 | Aina | 1 sairaudessa |
| CYC1cytochrome c1 | Aina | 1 sairaudessa |
| DGUOKdeoxyguanosine kinase | Aina | 1 sairaudessa |
| DNM1Ldynamin 1L | Aina | 1 sairaudessa |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Aina | 1 sairaudessa |
| ETHE1ETHE1 persulfide dioxygenase | Aina | 2 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Aina | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Aina | 1 sairaudessa |
| FDX2ferredoxin 2 | Aina | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Aina | 2 sairaudessa |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Aina | 1 sairaudessa |
| GATBglutamyl-tRNA amidotransferase subunit B | Aina | 1 sairaudessa |
| GATCglutamyl-tRNA amidotransferase subunit C | Aina | 1 sairaudessa |
| GTPBP3GTP binding protein 3, mitochondrial | Aina | 2 sairaudessa |
| HLCSholocarboxylase synthetase | Aina | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Aina | 2 sairaudessa |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| LIASlipoic acid synthetase | Aina | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Aina | 2 sairaudessa |
| LYRM4LYR motif containing 4 | Aina | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Aina | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Aina | 1 sairaudessa |
| MIPEPmitochondrial intermediate peptidase | Aina | 1 sairaudessa |
| MRPS14mitochondrial ribosomal protein S14 | Aina | 1 sairaudessa |
| MRPS16mitochondrial ribosomal protein S16 | Aina | 1 sairaudessa |
| MRPS22mitochondrial ribosomal protein S22 | Aina | 1 sairaudessa |
| MRPS34mitochondrial ribosomal protein S34 | Aina | 1 sairaudessa |
Näytä 162 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Aina | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Aina | 3 sairaudessa |
| MTO1mitochondrial tRNA translation optimization 1 | Aina | 2 sairaudessa |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Aina | 1 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Aina | 2 sairaudessa |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Aina | 2 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Aina | 2 sairaudessa |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Aina | 1 sairaudessa |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Aina | 2 sairaudessa |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Aina | 2 sairaudessa |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Aina | 2 sairaudessa |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Aina | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Aina | 2 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Aina | 2 sairaudessa |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Aina | 2 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Aina | 2 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Aina | 2 sairaudessa |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Aina | 1 sairaudessa |
| PCpyruvate carboxylase | Aina | 1 sairaudessa |
| PCK1phosphoenolpyruvate carboxykinase 1 | Aina | 2 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Aina | 2 sairaudessa |
| PDHBpyruvate dehydrogenase E1 subunit beta | Aina | 2 sairaudessa |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Aina | 2 sairaudessa |
| PET100PET100 cytochrome c oxidase chaperone | Aina | 1 sairaudessa |
| PNPLA8patatin like domain 8, phospholipase A2 | Aina | 1 sairaudessa |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Aina | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| RMND1required for meiotic nuclear division 1 homolog | Aina | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Aina | 2 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 2 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Aina | 1 sairaudessa |
| SFXN4sideroflexin 4 | Aina | 1 sairaudessa |
| SLC25A19solute carrier family 25 member 19 | Aina | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Aina | 2 sairaudessa |
| SLC25A42solute carrier family 25 member 42 | Aina | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Aina | 3 sairaudessa |
| SLC52A1solute carrier family 52 member 1 | Aina | 1 sairaudessa |
| SQORsulfide quinone oxidoreductase | Aina | 1 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Aina | 2 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Aina | 1 sairaudessa |
| TACO1translational activator of cytochrome c oxidase I | Aina | 1 sairaudessa |
| TMEM70transmembrane protein 70 | Aina | 1 sairaudessa |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Aina | 1 sairaudessa |
| TRMT5tRNA methyltransferase 5 | Aina | 1 sairaudessa |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Aina | 1 sairaudessa |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Aina | 1 sairaudessa |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Aina | 1 sairaudessa |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| YARS2tyrosyl-tRNA synthetase 2 | Aina | 2 sairaudessa |
| DLDdihydrolipoamide dehydrogenase | Hyvin usein (80–99%) | 2 sairaudessa |
| FBP1fructose-bisphosphatase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Hyvin usein (80–99%) | 3 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| PUS1pseudouridine synthase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SERAC1serine active site containing 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC25A13solute carrier family 25 member 13 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC25A3solute carrier family 25 member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Hyvin usein (80–99%) | 2 sairaudessa |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TKFCtriokinase and FMN cyclase | Hyvin usein (80–99%) | 2 sairaudessa |
| TMEM126Btransmembrane protein 126B | Hyvin usein (80–99%) | 2 sairaudessa |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 2 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Usein (30–79%) | 2 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Usein (30–79%) | 2 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Usein (30–79%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Usein (30–79%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Usein (30–79%) | 1 sairaudessa |
| C1QBPcomplement C1q binding protein | Usein (30–79%) | 1 sairaudessa |
| CAMKMTcalmodulin-lysine N-methyltransferase | Usein (30–79%) | 1 sairaudessa |
| COA8cytochrome c oxidase assembly factor 8 | Usein (30–79%) | 1 sairaudessa |
| DAP3death associated protein 3 | Usein (30–79%) | 1 sairaudessa |
| ELAC2elaC ribonuclease Z 2 | Usein (30–79%) | 1 sairaudessa |
| GFERgrowth factor, augmenter of liver regeneration | Usein (30–79%) | 1 sairaudessa |
| GFM1G elongation factor mitochondrial 1 | Usein (30–79%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Usein (30–79%) | 1 sairaudessa |
| IVDisovaleryl-CoA dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| LIG3DNA ligase 3 | Usein (30–79%) | 1 sairaudessa |
| LIPT2lipoyl(octanoyl) transferase 2 | Usein (30–79%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| MRPS7mitochondrial ribosomal protein S7 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Usein (30–79%) | 1 sairaudessa |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Usein (30–79%) | 1 sairaudessa |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| PDHXpyruvate dehydrogenase complex component X | Usein (30–79%) | 2 sairaudessa |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Usein (30–79%) | 2 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Usein (30–79%) | 2 sairaudessa |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Usein (30–79%) | 1 sairaudessa |
| PREPLprolyl endopeptidase like | Usein (30–79%) | 1 sairaudessa |
| SLC3A1solute carrier family 3 member 1 | Usein (30–79%) | 1 sairaudessa |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Usein (30–79%) | 1 sairaudessa |
| TPK1thiamin pyrophosphokinase 1 | Usein (30–79%) | 1 sairaudessa |
| TRNT1tRNA nucleotidyl transferase 1 | Usein (30–79%) | 1 sairaudessa |
| TYMPthymidine phosphorylase | Usein (30–79%) | 2 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Usein (30–79%) | 2 sairaudessa |
| COQ8Acoenzyme Q8A | Joskus (5–29%) | 2 sairaudessa |
| HADHhydroxyacyl-CoA dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| USP18ubiquitin specific peptidase 18 | Joskus (5–29%) | 1 sairaudessa |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Harvinainen (1–4 %) | 1 sairaudessa |
| FHfumarate hydratase | Harvinainen (1–4 %) | 2 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Harvinainen (1–4 %) | 2 sairaudessa |
| PHKBphosphorylase kinase regulatory subunit beta | Harvinainen (1–4 %) | 1 sairaudessa |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| PLPBPpyridoxal phosphate binding protein | Harvinainen (1–4 %) | 1 sairaudessa |
| ALDOBaldolase, fructose-bisphosphate B | Ei kirjattu | 1 sairaudessa |
| APTXaprataxin | Ei kirjattu | 1 sairaudessa |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ei kirjattu | 1 sairaudessa |
| CA5Acarbonic anhydrase 5A | Ei kirjattu | 1 sairaudessa |
| COQ2coenzyme Q2, polyprenyltransferase | Ei kirjattu | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Ei kirjattu | 1 sairaudessa |
| ISCUiron-sulfur cluster assembly enzyme | Ei kirjattu | 1 sairaudessa |
| LARS1leucyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| LIPT1lipoyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| MLYCDmalonyl-CoA decarboxylase | Ei kirjattu | 1 sairaudessa |
| MPC1mitochondrial pyruvate carrier 1 | Ei kirjattu | 1 sairaudessa |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ei kirjattu | 1 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ei kirjattu | 1 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ei kirjattu | 1 sairaudessa |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ei kirjattu | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ei kirjattu | 1 sairaudessa |
| NAXENAD(P)HX epimerase | Ei kirjattu | 1 sairaudessa |
| PCCApropionyl-CoA carboxylase subunit alpha | Ei kirjattu | 1 sairaudessa |
| PCCBpropionyl-CoA carboxylase subunit beta | Ei kirjattu | 1 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ei kirjattu | 1 sairaudessa |
| TK2thymidine kinase 2 | Ei kirjattu | 1 sairaudessa |
| TRMUtRNA mitochondrial 2-thiouridylase | Ei kirjattu | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| TUFMTu translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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