Cecha
Higher than normal levels of lactate in blood
Nazwa kliniczna: 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).
Podsumowanie
- Znana także jako
- Increased blood lactate, Increased serum lactate
- Układ organizmu
- Laboratory abnormality
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Higher than normal levels of lactate in blood, and the rest of your genome, with one test.
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Zamawiam Genome Test234 genów powiązanych z Higher than normal levels of lactate in blood
Zmiany w tych genach powodują rzadkie choroby, w których występuje Higher than normal levels of lactate in blood. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACACAacetyl-CoA carboxylase alpha | Zawsze | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Zawsze | W 2 chorobach |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Zawsze | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Zawsze | W 1 chorobie |
| CA5Acarbonic anhydrase 5A | Zawsze | W 1 chorobie |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Zawsze | W 2 chorobach |
| COX11cytochrome c oxidase copper chaperone COX11 | Zawsze | W 1 chorobie |
| COX14cytochrome c oxidase assembly factor COX14 | Zawsze | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Zawsze | W 1 chorobie |
| COX20cytochrome c oxidase assembly factor COX20 | Zawsze | W 1 chorobie |
| COX5Acytochrome c oxidase subunit 5A | Zawsze | W 1 chorobie |
| COX6A2cytochrome c oxidase subunit 6A2 | Zawsze | W 1 chorobie |
| COX6B1cytochrome c oxidase subunit 6B1 | Zawsze | W 2 chorobach |
| COX8Acytochrome c oxidase subunit 8A | Zawsze | W 1 chorobie |
| CYC1cytochrome c1 | Zawsze | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Zawsze | W 1 chorobie |
| ECHS1enoyl-CoA hydratase, short chain 1 | Zawsze | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Zawsze | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| FDX2ferredoxin 2 | Zawsze | W 1 chorobie |
| GKglycerol kinase | Zawsze | W 1 chorobie |
| GOT2glutamic-oxaloacetic transaminase 2 | Zawsze | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Zawsze | W 1 chorobie |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Zawsze | W 1 chorobie |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Zawsze | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Zawsze | W 2 chorobach |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| LIASlipoic acid synthetase | Zawsze | W 1 chorobie |
| LIPT1lipoyltransferase 1 | Zawsze | W 1 chorobie |
| LIPT2lipoyl(octanoyl) transferase 2 | Zawsze | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Zawsze | W 2 chorobach |
| LYRM7LYR motif containing 7 | Zawsze | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Zawsze | W 1 chorobie |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Zawsze | W 1 chorobie |
| MIPEPmitochondrial intermediate peptidase | Zawsze | W 1 chorobie |
| MRPL12mitochondrial ribosomal protein L12 | Zawsze | W 1 chorobie |
| MRPL3mitochondrial ribosomal protein L3 | Zawsze | W 1 chorobie |
| MRPS14mitochondrial ribosomal protein S14 | Zawsze | W 1 chorobie |
| MRPS16mitochondrial ribosomal protein S16 | Zawsze | W 1 chorobie |
Pokaż jeszcze 194 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MRPS2mitochondrial ribosomal protein S2 | Zawsze | W 1 chorobie |
| MRPS28mitochondrial ribosomal protein S28 | Zawsze | W 1 chorobie |
| MRPS34mitochondrial ribosomal protein S34 | Zawsze | W 1 chorobie |
| MRPS7mitochondrial ribosomal protein S7 | Zawsze | W 1 chorobie |
| MTO1mitochondrial tRNA translation optimization 1 | Zawsze | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Zawsze | W 1 chorobie |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
| NAXENAD(P)HX epimerase | Zawsze | W 1 chorobie |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Zawsze | W 1 chorobie |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Zawsze | W 1 chorobie |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Zawsze | W 1 chorobie |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Zawsze | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Zawsze | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Zawsze | W 1 chorobie |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Zawsze | W 1 chorobie |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Zawsze | W 1 chorobie |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Zawsze | W 1 chorobie |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Zawsze | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Zawsze | W 1 chorobie |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Zawsze | W 1 chorobie |
| NFS1NFS1 cysteine desulfurase | Zawsze | W 1 chorobie |
| NFU1NFU1 iron-sulfur cluster scaffold | Zawsze | W 2 chorobach |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Zawsze | W 1 chorobie |
| OGDHoxoglutarate dehydrogenase | Zawsze | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 2 chorobach |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Zawsze | W 2 chorobach |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Zawsze | W 1 chorobie |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Zawsze | W 1 chorobie |
| PET100PET100 cytochrome c oxidase chaperone | Zawsze | W 1 chorobie |
| PET117PET117 cytochrome c oxidase chaperone | Zawsze | W 1 chorobie |
| PNPLA8patatin like domain 8, phospholipase A2 | Zawsze | W 1 chorobie |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Zawsze | W 2 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Zawsze | W 3 chorobach |
| RMND1required for meiotic nuclear division 1 homolog | Zawsze | W 1 chorobie |
| RRAGCRas related GTP binding C | Zawsze | W 1 chorobie |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Zawsze | W 2 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Zawsze | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zawsze | W 1 chorobie |
| SFXN4sideroflexin 4 | Zawsze | W 1 chorobie |
| SLC25A10solute carrier family 25 member 10 | Zawsze | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Zawsze | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Zawsze | W 2 chorobach |
| SLC25A42solute carrier family 25 member 42 | Zawsze | W 1 chorobie |
| SLC31A1solute carrier family 31 member 1 | Zawsze | W 1 chorobie |
| SOD1superoxide dismutase 1 | Zawsze | W 1 chorobie |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| TEFMtranscription elongation factor, mitochondrial | Zawsze | W 1 chorobie |
| TIMM22translocase of inner mitochondrial membrane 22 | Zawsze | W 1 chorobie |
| TMEM126Btransmembrane protein 126B | Zawsze | W 1 chorobie |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Zawsze | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Zawsze | W 1 chorobie |
| TRMUtRNA mitochondrial 2-thiouridylase | Zawsze | W 1 chorobie |
| TSFMTs translation elongation factor, mitochondrial | Zawsze | W 1 chorobie |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Zawsze | W 1 chorobie |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Zawsze | W 1 chorobie |
| UQCRBubiquinol-cytochrome c reductase binding protein | Zawsze | W 1 chorobie |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Zawsze | W 1 chorobie |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Zawsze | W 1 chorobie |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Zawsze | W 1 chorobie |
| YARS1tyrosyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| YARS2tyrosyl-tRNA synthetase 2 | Zawsze | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Bardzo często (80–99%) | W 3 chorobach |
| COQ4coenzyme Q4 | Bardzo często (80–99%) | W 1 chorobie |
| DLDdihydrolipoamide dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Bardzo często (80–99%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Bardzo często (80–99%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Bardzo często (80–99%) | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Bardzo często (80–99%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Bardzo często (80–99%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Bardzo często (80–99%) | W 2 chorobach |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Bardzo często (80–99%) | W 2 chorobach |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Bardzo często (80–99%) | W 2 chorobach |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Bardzo często (80–99%) | W 2 chorobach |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Bardzo często (80–99%) | W 2 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Bardzo często (80–99%) | W 5 chorobach |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Bardzo często (80–99%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Bardzo często (80–99%) | W 4 chorobach |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Bardzo często (80–99%) | W 2 chorobach |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Bardzo często (80–99%) | W 2 chorobach |
| PDHXpyruvate dehydrogenase complex component X | Bardzo często (80–99%) | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Bardzo często (80–99%) | W 3 chorobach |
| SERAC1serine active site containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A3solute carrier family 25 member 3 | Bardzo często (80–99%) | W 1 chorobie |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Bardzo często (80–99%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Bardzo często (80–99%) | W 2 chorobach |
| TIMM50translocase of inner mitochondrial membrane 50 | Bardzo często (80–99%) | W 2 chorobach |
| TXN2thioredoxin 2 | Bardzo często (80–99%) | W 2 chorobach |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ACAD9acyl-CoA dehydrogenase family member 9 | Często (30–79%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| BOLA3bolA family member 3 | Często (30–79%) | W 1 chorobie |
| C1QBPcomplement C1q binding protein | Często (30–79%) | W 1 chorobie |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 2 chorobach |
| CLPBClpB family mitochondrial disaggregase | Często (30–79%) | W 2 chorobach |
| COQ8Acoenzyme Q8A | Często (30–79%) | W 2 chorobach |
| COX4I1cytochrome c oxidase subunit 4I1 | Często (30–79%) | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Często (30–79%) | W 1 chorobie |
| DNM1Ldynamin 1L | Często (30–79%) | W 2 chorobach |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Często (30–79%) | W 2 chorobach |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 2 chorobach |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Często (30–79%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Często (30–79%) | W 2 chorobach |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Często (30–79%) | W 1 chorobie |
| HSPD1heat shock protein family D (Hsp60) member 1 | Często (30–79%) | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Często (30–79%) | W 1 chorobie |
| ISCA1iron-sulfur cluster assembly 1 | Często (30–79%) | W 2 chorobach |
| KLC4kinesin light chain 4 | Często (30–79%) | W 1 chorobie |
| LDB3LIM domain binding 3 | Często (30–79%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Często (30–79%) | W 1 chorobie |
| MRPL39mitochondrial ribosomal protein L39 | Często (30–79%) | W 1 chorobie |
| MRPL44mitochondrial ribosomal protein L44 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Często (30–79%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Często (30–79%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 3 chorobach |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Często (30–79%) | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Często (30–79%) | W 2 chorobach |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Często (30–79%) | W 1 chorobie |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Często (30–79%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Często (30–79%) | W 2 chorobach |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Często (30–79%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Często (30–79%) | W 1 chorobie |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Często (30–79%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Często (30–79%) | W 1 chorobie |
| PCK1phosphoenolpyruvate carboxykinase 1 | Często (30–79%) | W 1 chorobie |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Często (30–79%) | W 1 chorobie |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Często (30–79%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 1 chorobie |
| PMPCBpeptidase, mitochondrial processing subunit beta | Często (30–79%) | W 1 chorobie |
| PNPOpyridoxamine 5'-phosphate oxidase | Często (30–79%) | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 6 chorobach |
| PPCSphosphopantothenoylcysteine synthetase | Często (30–79%) | W 1 chorobie |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Często (30–79%) | W 1 chorobie |
| PUS1pseudouridine synthase 1 | Często (30–79%) | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Często (30–79%) | W 1 chorobie |
| STAT2signal transducer and activator of transcription 2 | Często (30–79%) | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Często (30–79%) | W 1 chorobie |
| TK2thymidine kinase 2 | Często (30–79%) | W 1 chorobie |
| TPK1thiamin pyrophosphokinase 1 | Często (30–79%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Często (30–79%) | W 5 chorobach |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| YME1L1YME1 like 1 ATPase | Często (30–79%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Czasami (5–29%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Czasami (5–29%) | W 2 chorobach |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| ISCA2iron-sulfur cluster assembly 2 | Czasami (5–29%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Czasami (5–29%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| PITRM1pitrilysin metallopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| POLRMTRNA polymerase mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PRORPprotein only RNase P catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 1 chorobie |
| UPB1beta-ureidopropionase 1 | Czasami (5–29%) | W 1 chorobie |
| ACAT2acetyl-CoA acetyltransferase 2 | Nie odnotowano | W 1 chorobie |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Nie odnotowano | W 1 chorobie |
| AGKacylglycerol kinase | Nie odnotowano | W 1 chorobie |
| AMPD1adenosine monophosphate deaminase 1 | Nie odnotowano | W 1 chorobie |
| AMPD3adenosine monophosphate deaminase 3 | Nie odnotowano | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nie odnotowano | W 1 chorobie |
| COQ9coenzyme Q9 | Nie odnotowano | W 1 chorobie |
| COX15cytochrome c oxidase assembly factor COX15 | Nie odnotowano | W 1 chorobie |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| GFM1G elongation factor mitochondrial 1 | Nie odnotowano | W 1 chorobie |
| GYS2glycogen synthase 2 | Nie odnotowano | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Nie odnotowano | W 1 chorobie |
| ISCUiron-sulfur cluster assembly enzyme | Nie odnotowano | W 1 chorobie |
| LDHAlactate dehydrogenase A | Nie odnotowano | W 1 chorobie |
| MPC1mitochondrial pyruvate carrier 1 | Nie odnotowano | W 1 chorobie |
| MRPS22mitochondrial ribosomal protein S22 | Nie odnotowano | W 1 chorobie |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Nie odnotowano | W 1 chorobie |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Nie odnotowano | W 1 chorobie |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Nie odnotowano | W 1 chorobie |
| PCpyruvate carboxylase | Nie odnotowano | W 1 chorobie |
| SLC25A26solute carrier family 25 member 26 | Nie odnotowano | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Nie odnotowano | W 1 chorobie |
| SURF1SURF1 cytochrome c oxidase assembly factor | Nie odnotowano | W 2 chorobach |
| SYNJ1synaptojanin 1 | Nie odnotowano | W 1 chorobie |
| TACO1translational activator of cytochrome c oxidase I | Nie odnotowano | W 1 chorobie |
| TMEM70transmembrane protein 70 | Nie odnotowano | W 1 chorobie |
| TUFMTu translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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