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Požymis
Increased CSF lactate
Increased concentration of lactate in the cerebrospinal fluid.
Santrauka
- Taip pat vadinama
- Hyperlactatorachia, Increased cerebrospinal fluid lactate, Increased CSF lactic acid
Increased CSF lactateHP:0002490
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Read the genes linked to Increased CSF lactate, and the rest of your genome, with one test.
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Įsigyti savo Genome Test127 genų susiję su Increased CSF lactate
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Increased CSF lactate. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 2 ligose |
| ATP5POATP synthase peripheral stalk subunit OSCP | Visada | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Visada | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 2 ligose |
| COX14cytochrome c oxidase assembly factor COX14 | Visada | 1 ligoje |
| COX20cytochrome c oxidase assembly factor COX20 | Visada | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Visada | 1 ligoje |
| COX8Acytochrome c oxidase subunit 8A | Visada | 1 ligoje |
| COXFA4cytochrome c oxidase associated subunit FA4 | Visada | 1 ligoje |
| ECHS1enoyl-CoA hydratase, short chain 1 | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Visada | 2 ligose |
| LRPPRCleucine rich pentatricopeptide repeat containing | Visada | 2 ligose |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| MDH2malate dehydrogenase 2 | Visada | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 2 ligose |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 1 ligoje |
| NAXENAD(P)HX epimerase | Visada | 2 ligose |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Visada | 1 ligoje |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Visada | 1 ligoje |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Visada | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 2 ligose |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Visada | 2 ligose |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Visada | 2 ligose |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Visada | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Visada | 2 ligose |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Visada | 2 ligose |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Visada | 2 ligose |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Visada | 2 ligose |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 2 ligose |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Visada | 2 ligose |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 2 ligose |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 2 ligose |
| PET100PET100 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PET117PET117 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Visada | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 2 ligose |
Rodyti dar 87 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SLC25A19solute carrier family 25 member 19 | Visada | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Visada | 2 ligose |
| SLC31A1solute carrier family 31 member 1 | Visada | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Visada | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Visada | 2 ligose |
| TIMM50translocase of inner mitochondrial membrane 50 | Visada | 1 ligoje |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Visada | 1 ligoje |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Visada | 1 ligoje |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Visada | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Labai dažnai (80–99%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 3 ligose |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Labai dažnai (80–99%) | 2 ligose |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Labai dažnai (80–99%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Labai dažnai (80–99%) | 3 ligose |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Labai dažnai (80–99%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Labai dažnai (80–99%) | 2 ligose |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 2 ligose |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| PDHXpyruvate dehydrogenase complex component X | Labai dažnai (80–99%) | 1 ligoje |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 2 ligose |
| COA8cytochrome c oxidase assembly factor 8 | Dažnai (30–79%) | 1 ligoje |
| COQ8Acoenzyme Q8A | Dažnai (30–79%) | 2 ligose |
| COX11cytochrome c oxidase copper chaperone COX11 | Dažnai (30–79%) | 1 ligoje |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Dažnai (30–79%) | 2 ligose |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Dažnai (30–79%) | 1 ligoje |
| LYRM4LYR motif containing 4 | Dažnai (30–79%) | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Dažnai (30–79%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| SLC13A3solute carrier family 13 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Dažnai (30–79%) | 1 ligoje |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Kartais (5–29%) | 1 ligoje |
| BOLA3bolA family member 3 | Kartais (5–29%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| GLRX5glutaredoxin 5 | Kartais (5–29%) | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SLC39A8solute carrier family 39 member 8 | Kartais (5–29%) | 1 ligoje |
| TRAPPC12trafficking protein particle complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Neužfiksuota | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Neužfiksuota | 2 ligose |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Neužfiksuota | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Neužfiksuota | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Neužfiksuota | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Neužfiksuota | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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