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Egenskap
Higher than normal levels of lactate in blood
Klinisk navn: Increased circulating lactate concentration
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Sammendrag
- Også kalt
- Increased blood lactate, Increased serum lactate
- Kroppssystem
- Laboratory abnormality
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Få mitt Genome Test234 gener knyttet til Higher than normal levels of lactate in blood
Endringer i disse genene forårsaker sjeldne tilstander der Higher than normal levels of lactate in blood forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACACAacetyl-CoA carboxylase alpha | Alltid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 2 tilstander |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| CA5Acarbonic anhydrase 5A | Alltid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 2 tilstander |
| COX11cytochrome c oxidase copper chaperone COX11 | Alltid | I 1 tilstand |
| COX14cytochrome c oxidase assembly factor COX14 | Alltid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Alltid | I 1 tilstand |
| COX20cytochrome c oxidase assembly factor COX20 | Alltid | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Alltid | I 1 tilstand |
| COX6A2cytochrome c oxidase subunit 6A2 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 2 tilstander |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| CYC1cytochrome c1 | Alltid | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Alltid | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Alltid | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FDX2ferredoxin 2 | Alltid | I 1 tilstand |
| GKglycerol kinase | Alltid | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Alltid | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Alltid | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Alltid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| LIASlipoic acid synthetase | Alltid | I 1 tilstand |
| LIPT1lipoyltransferase 1 | Alltid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Alltid | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Alltid | I 2 tilstander |
| LYRM7LYR motif containing 7 | Alltid | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Alltid | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alltid | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Alltid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MRPL3mitochondrial ribosomal protein L3 | Alltid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Alltid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Alltid | I 1 tilstand |
Vis 194 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MRPS2mitochondrial ribosomal protein S2 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Alltid | I 1 tilstand |
| MRPS7mitochondrial ribosomal protein S7 | Alltid | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Alltid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NAXENAD(P)HX epimerase | Alltid | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Alltid | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alltid | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alltid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alltid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tilstand |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Alltid | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Alltid | I 1 tilstand |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Alltid | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Alltid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alltid | I 1 tilstand |
| NFS1NFS1 cysteine desulfurase | Alltid | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 2 tilstander |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Alltid | I 1 tilstand |
| OGDHoxoglutarate dehydrogenase | Alltid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 2 tilstander |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alltid | I 2 tilstander |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Alltid | I 1 tilstand |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Alltid | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Alltid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Alltid | I 1 tilstand |
| PNPLA8patatin like domain 8, phospholipase A2 | Alltid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 2 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Alltid | I 3 tilstander |
| RMND1required for meiotic nuclear division 1 homolog | Alltid | I 1 tilstand |
| RRAGCRas related GTP binding C | Alltid | I 1 tilstand |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 2 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alltid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 1 tilstand |
| SFXN4sideroflexin 4 | Alltid | I 1 tilstand |
| SLC25A10solute carrier family 25 member 10 | Alltid | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Alltid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 2 tilstander |
| SLC25A42solute carrier family 25 member 42 | Alltid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Alltid | I 1 tilstand |
| TIMM22translocase of inner mitochondrial membrane 22 | Alltid | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Alltid | I 1 tilstand |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Alltid | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Alltid | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Alltid | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Alltid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Alltid | I 1 tilstand |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Alltid | I 1 tilstand |
| UQCRBubiquinol-cytochrome c reductase binding protein | Alltid | I 1 tilstand |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Alltid | I 1 tilstand |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Alltid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Alltid | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Svært ofte (80–99 %) | I 3 tilstander |
| COQ4coenzyme Q4 | Svært ofte (80–99 %) | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Svært ofte (80–99 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Svært ofte (80–99 %) | I 2 tilstander |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Svært ofte (80–99 %) | I 5 tilstander |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Svært ofte (80–99 %) | I 4 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Svært ofte (80–99 %) | I 2 tilstander |
| PDHXpyruvate dehydrogenase complex component X | Svært ofte (80–99 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SERAC1serine active site containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A3solute carrier family 25 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Svært ofte (80–99 %) | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 2 tilstander |
| TXN2thioredoxin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Ofte (30–79 %) | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Ofte (30–79 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 2 tilstander |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 2 tilstander |
| COX4I1cytochrome c oxidase subunit 4I1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ofte (30–79 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 2 tilstander |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ofte (30–79 %) | I 2 tilstander |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstander |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ofte (30–79 %) | I 2 tilstander |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Ofte (30–79 %) | I 2 tilstander |
| KLC4kinesin light chain 4 | Ofte (30–79 %) | I 1 tilstand |
| LDB3LIM domain binding 3 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| MRPL44mitochondrial ribosomal protein L44 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 3 tilstander |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ofte (30–79 %) | I 2 tilstander |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 2 tilstander |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ofte (30–79 %) | I 1 tilstand |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ofte (30–79 %) | I 2 tilstander |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 6 tilstander |
| PPCSphosphopantothenoylcysteine synthetase | Ofte (30–79 %) | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Ofte (30–79 %) | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Ofte (30–79 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 5 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 2 tilstander |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT2acetyl-CoA acetyltransferase 2 | Ikke registrert | I 1 tilstand |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Ikke registrert | I 1 tilstand |
| AGKacylglycerol kinase | Ikke registrert | I 1 tilstand |
| AMPD1adenosine monophosphate deaminase 1 | Ikke registrert | I 1 tilstand |
| AMPD3adenosine monophosphate deaminase 3 | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registrert | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ikke registrert | I 1 tilstand |
| GYS2glycogen synthase 2 | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Ikke registrert | I 1 tilstand |
| LDHAlactate dehydrogenase A | Ikke registrert | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Ikke registrert | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registrert | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registrert | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registrert | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registrert | I 1 tilstand |
| PCpyruvate carboxylase | Ikke registrert | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registrert | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 2 tilstander |
| SYNJ1synaptojanin 1 | Ikke registrert | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registrert | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registrert | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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Logg innSpørKom i gangfra 449 $
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