Egenskap
Increased CSF lactate
Increased concentration of lactate in the cerebrospinal fluid.
Sammendrag
- Også kalt
- Hyperlactatorachia, Increased cerebrospinal fluid lactate, Increased CSF lactic acid
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test127 gener knyttet til Increased CSF lactate
Endringer i disse genene forårsaker sjeldne tilstander der Increased CSF lactate 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 2 tilstander |
| ATP5POATP synthase peripheral stalk subunit OSCP | Alltid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Alltid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 2 tilstander |
| COX14cytochrome c oxidase assembly factor COX14 | Alltid | I 1 tilstand |
| COX20cytochrome c oxidase assembly factor COX20 | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| COXFA4cytochrome c oxidase associated subunit FA4 | Alltid | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alltid | I 2 tilstander |
| LRPPRCleucine rich pentatricopeptide repeat containing | Alltid | I 2 tilstander |
| LYRM7LYR motif containing 7 | Alltid | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Alltid | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 2 tilstander |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Alltid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 1 tilstand |
| NAXENAD(P)HX epimerase | Alltid | I 2 tilstander |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Alltid | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alltid | I 2 tilstander |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Alltid | I 2 tilstander |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Alltid | I 2 tilstander |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Alltid | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Alltid | I 2 tilstander |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Alltid | I 2 tilstander |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alltid | I 2 tilstander |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Alltid | I 2 tilstander |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 2 tilstander |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alltid | I 2 tilstander |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 2 tilstander |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alltid | I 2 tilstander |
| PET100PET100 cytochrome c oxidase chaperone | Alltid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Alltid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 2 tilstander |
Vis 87 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SLC25A19solute carrier family 25 member 19 | Alltid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 2 tilstander |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Alltid | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alltid | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 1 tilstand |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | 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 |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | 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-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | 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-TKmitochondrially encoded tRNA-Lys (AAA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Svært ofte (80–99 %) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Svært ofte (80–99 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Svært ofte (80–99 %) | I 1 tilstand |
| TXN2thioredoxin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 2 tilstander |
| COX11cytochrome c oxidase copper chaperone COX11 | Ofte (30–79 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 2 tilstander |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| LYRM4LYR motif containing 4 | Ofte (30–79 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| SLC13A3solute carrier family 13 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | 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 |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registrert | I 2 tilstander |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registrert | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ikke registrert | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | 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.
Bredere egenskaper
Slik er informasjonen samlet
- 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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Fra 449 $Gratis frakt · Resultater på 6–8 uker