AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Increased CSF lactate
Increased concentration of lactate in the cerebrospinal fluid.
Yhteenveto
- Tunnetaan myös nimellä
- Hyperlactatorachia, Increased cerebrospinal fluid lactate, Increased CSF lactic acid
- Elimistön järjestelmä
- Laboratory abnormalityAbnormality of the nervous system
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/increased-csf-lactate.json"
page <- fromJSON(url)
page$trait$nameIncreased CSF lactateHP:0002490
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Increased CSF lactate-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test35 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Primary Mitochondrial DiseaseReads 62 of these genesAIFM1ATP5POCOX10COX20COXFA4LRPPRCAbout this report →
- Leigh SyndromeReads 44 of these genesAIFM1COX10ECHS1LRPPRCMTFMTNDUFAF2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 50 of these genesAIFM1COX10ECHS1FDXRLRPPRCMPV17About this report →
- Hereditary Optic NeuropathyReads 6 of these genesOPA1MT-ND1MT-ND4MT-ND5MT-ND6DNM1LAbout this report →
Show 31 more reports
- Thiamine Transporter and Metabolism DisordersReads 2 of these genesSLC25A19TPK1About this report →
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)Reads 1 of these genesHTRA2About this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- ECHS1 DeficiencyReads 1 of these genesECHS1About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- HSD10 Mitochondrial DiseaseReads 1 of these genesHSD17B10About this report →
- Hyperprolinaemia Type 2Reads 1 of these genesALDH4A1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Inherited Neurodegenerative DisordersReads 14 of these genesNADK2NAXEOPA1MT-ND1MT-ND4MT-ND5About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A4About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 2 of these genesPDHA1PDHXAbout this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesAIFM1MPV17SCO2SURF1About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesSLC25A4About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesGLRX5About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesNADK2DARS2ISCA2About this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesFARS2HPDLAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesRARS2About this report →
- Epilepsy (Full Panel)Reads 3 of these genesMDH2SLC2A1MECP2About this report →
- Hearing Loss and DeafnessReads 2 of these genesAIFM1PNPT1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesNDUFB11About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSLC2A1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesCOQ8AAbout this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC39A8About this report →
- Intellectual DisabilityReads 1 of these genesMECP2About this report →
Lue Increased CSF lactate-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test127 geeniä, jotka liittyvät piirteeseen Increased CSF lactate
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Increased CSF lactate esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Aina | 2 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Aina | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Aina | 1 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Aina | 1 sairaudessa |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Aina | 2 sairaudessa |
| COX14cytochrome c oxidase assembly factor COX14 | Aina | 1 sairaudessa |
| COX20cytochrome c oxidase assembly factor COX20 | Aina | 1 sairaudessa |
| COX4I1cytochrome c oxidase subunit 4I1 | Aina | 1 sairaudessa |
| COX8Acytochrome c oxidase subunit 8A | Aina | 1 sairaudessa |
| COXFA4cytochrome c oxidase associated subunit FA4 | Aina | 1 sairaudessa |
| ECHS1enoyl-CoA hydratase, short chain 1 | Aina | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Aina | 2 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Aina | 2 sairaudessa |
| LYRM7LYR motif containing 7 | Aina | 1 sairaudessa |
| MDH2malate dehydrogenase 2 | Aina | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Aina | 2 sairaudessa |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Aina | 1 sairaudessa |
| NADK2NAD kinase 2, mitochondrial | Aina | 1 sairaudessa |
| NAXENAD(P)HX epimerase | Aina | 2 sairaudessa |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Aina | 1 sairaudessa |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Aina | 1 sairaudessa |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Aina | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Aina | 2 sairaudessa |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Aina | 2 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Aina | 2 sairaudessa |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Aina | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Aina | 2 sairaudessa |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Aina | 2 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Aina | 2 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Aina | 2 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Aina | 2 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Aina | 2 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 2 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Aina | 2 sairaudessa |
| PET100PET100 cytochrome c oxidase chaperone | Aina | 1 sairaudessa |
| PET117PET117 cytochrome c oxidase chaperone | Aina | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Aina | 2 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 2 sairaudessa |
Näytä 87 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| SLC25A19solute carrier family 25 member 19 | Aina | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Aina | 2 sairaudessa |
| SLC31A1solute carrier family 31 member 1 | Aina | 1 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Aina | 1 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Aina | 2 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Aina | 1 sairaudessa |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Aina | 1 sairaudessa |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Aina | 1 sairaudessa |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Aina | 1 sairaudessa |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDHXpyruvate dehydrogenase complex component X | Hyvin usein (80–99%) | 1 sairaudessa |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM126Btransmembrane protein 126B | Hyvin usein (80–99%) | 1 sairaudessa |
| TXN2thioredoxin 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| COA8cytochrome c oxidase assembly factor 8 | Usein (30–79%) | 1 sairaudessa |
| COQ8Acoenzyme Q8A | Usein (30–79%) | 2 sairaudessa |
| COX11cytochrome c oxidase copper chaperone COX11 | Usein (30–79%) | 1 sairaudessa |
| DNM1Ldynamin 1L | Usein (30–79%) | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Usein (30–79%) | 2 sairaudessa |
| HMBShydroxymethylbilane synthase | Usein (30–79%) | 1 sairaudessa |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Usein (30–79%) | 1 sairaudessa |
| LYRM4LYR motif containing 4 | Usein (30–79%) | 1 sairaudessa |
| MRPS34mitochondrial ribosomal protein S34 | Usein (30–79%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Usein (30–79%) | 1 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Usein (30–79%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Usein (30–79%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Usein (30–79%) | 1 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Usein (30–79%) | 1 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Usein (30–79%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Usein (30–79%) | 2 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Usein (30–79%) | 1 sairaudessa |
| NAXDNAD(P)HX dehydratase | Usein (30–79%) | 1 sairaudessa |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| SLC13A3solute carrier family 13 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Usein (30–79%) | 1 sairaudessa |
| TPK1thiamin pyrophosphokinase 1 | Usein (30–79%) | 1 sairaudessa |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Joskus (5–29%) | 1 sairaudessa |
| BOLA3bolA family member 3 | Joskus (5–29%) | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| GLRX5glutaredoxin 5 | Joskus (5–29%) | 1 sairaudessa |
| ISCA2iron-sulfur cluster assembly 2 | Joskus (5–29%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Joskus (5–29%) | 1 sairaudessa |
| SLC39A8solute carrier family 39 member 8 | Joskus (5–29%) | 1 sairaudessa |
| TRAPPC12trafficking protein particle complex subunit 12 | Joskus (5–29%) | 1 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Ei kirjattu | 1 sairaudessa |
| COX6B1cytochrome c oxidase subunit 6B1 | Ei kirjattu | 2 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ei kirjattu | 1 sairaudessa |
| GFM1G elongation factor mitochondrial 1 | Ei kirjattu | 1 sairaudessa |
| HTRA2HtrA serine peptidase 2 | Ei kirjattu | 1 sairaudessa |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ei kirjattu | 1 sairaudessa |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| RMND1required for meiotic nuclear division 1 homolog | Ei kirjattu | 1 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Ei kirjattu | 1 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ei kirjattu | 1 sairaudessa |
| TACO1translational activator of cytochrome c oxidase I | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.18-8b139e39.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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Read the genes behind these traits in your own DNA.
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