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Tunnus
Increased CSF lactate
Increased concentration of lactate in the cerebrospinal fluid.
Kokkuvõte
- Teised nimetused
- 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.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test127 geeni on seotud tunnusega Increased CSF lactate
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Increased CSF lactate. 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 |
| ATP5POATP synthase peripheral stalk subunit OSCP | Alati | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alati | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Alati | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alati | Esineb 2 haiguses |
| COX14cytochrome c oxidase assembly factor COX14 | Alati | Esineb 1 haiguses |
| COX20cytochrome c oxidase assembly factor COX20 | Alati | Esineb 1 haiguses |
| COX4I1cytochrome c oxidase subunit 4I1 | Alati | Esineb 1 haiguses |
| COX8Acytochrome c oxidase subunit 8A | Alati | Esineb 1 haiguses |
| COXFA4cytochrome c oxidase associated subunit FA4 | Alati | Esineb 1 haiguses |
| ECHS1enoyl-CoA hydratase, short chain 1 | Alati | Esineb 1 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alati | Esineb 2 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Alati | Esineb 2 haiguses |
| LYRM7LYR motif containing 7 | Alati | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Alati | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 2 haiguses |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Alati | Esineb 1 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Alati | Esineb 2 haiguses |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Alati | Esineb 1 haiguses |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alati | Esineb 1 haiguses |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alati | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alati | Esineb 2 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Alati | Esineb 2 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Alati | Esineb 2 haiguses |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Alati | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Alati | Esineb 2 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Alati | Esineb 2 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alati | Esineb 2 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Alati | Esineb 2 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Alati | Esineb 2 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alati | Esineb 2 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 2 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alati | Esineb 2 haiguses |
| PET100PET100 cytochrome c oxidase chaperone | Alati | Esineb 1 haiguses |
| PET117PET117 cytochrome c oxidase chaperone | Alati | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alati | Esineb 2 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 2 haiguses |
Näita veel 87 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SLC25A19solute carrier family 25 member 19 | Alati | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Alati | Esineb 2 haiguses |
| SLC31A1solute carrier family 31 member 1 | Alati | Esineb 1 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Alati | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alati | Esineb 2 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Alati | Esineb 1 haiguses |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Alati | Esineb 1 haiguses |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Alati | Esineb 1 haiguses |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Alati | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Väga sageli (80–99%) | Esineb 2 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 2 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 |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | 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 |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | 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 |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDHXpyruvate dehydrogenase complex component X | 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 |
| TXN2thioredoxin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COA8cytochrome c oxidase assembly factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ8Acoenzyme Q8A | Sageli (30–79%) | Esineb 2 haiguses |
| COX11cytochrome c oxidase copper chaperone COX11 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sageli (30–79%) | Esineb 2 haiguses |
| HMBShydroxymethylbilane synthase | Sageli (30–79%) | Esineb 1 haiguses |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Sageli (30–79%) | Esineb 1 haiguses |
| LYRM4LYR motif containing 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPS34mitochondrial ribosomal protein S34 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Sageli (30–79%) | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| SLC13A3solute carrier family 13 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TPK1thiamin pyrophosphokinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLRX5glutaredoxin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ISCA2iron-sulfur cluster assembly 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAPPC12trafficking protein particle complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Pole registreeritud | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Pole registreeritud | Esineb 2 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Pole registreeritud | Esineb 1 haiguses |
| GFM1G elongation factor mitochondrial 1 | Pole registreeritud | Esineb 1 haiguses |
| HTRA2HtrA serine peptidase 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Pole registreeritud | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Pole registreeritud | Esineb 1 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Pole registreeritud | Esineb 1 haiguses |
| SURF1SURF1 cytochrome c oxidase assembly factor | Pole registreeritud | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | 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 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast