Kenmerk
Increased lactate in body
Klinische naam: Lactic acidosis
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Samenvatting
- Ook bekend als
- Hyperlacticacidemia, Lactic acidemia, Lacticacidemia, Lacticacidosis
- Lichaamssysteem
- Laboratory abnormality
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page$trait$nameLees de genen die aan Increased lactate in body gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen48 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 86 of these genesACAD9AGKBCS1LCOA6COQ9COX10About this report →
- Leigh SyndromeReads 49 of these genesCOX10EARS2ETHE1FARS2FBXL4FOXRED1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 64 of these genesCOQ9COX10EARS2ETHE1FARS2FBXL4About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 9 of these genesLIASPCPDHA1PDHBPDP1DLDAbout this report →
Show 44 more reports
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 3 of these genesPCK1FBP1ALDOBAbout this report →
- Hereditary Optic NeuropathyReads 5 of these genesDNM1LMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Glycogen Storage DiseaseReads 5 of these genesG6PC1SLC37A4PHKA2PHKBPHKG2About this report →
- Hereditary Sideroblastic AnaemiasReads 3 of these genesYARS2PUS1TRNT1About this report →
- Maple Syrup Urine DiseaseReads 2 of these genesDLDBCKDHAAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 2 of these genesSLC25A19TPK1About this report →
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- HSD10 Mitochondrial DiseaseReads 1 of these genesHSD17B10About this report →
- Syndromic and Metabolic CardiomyopathiesReads 2 of these genesAGKSLC25A4About this report →
- Classic Organic AciduriasReads 2 of these genesIVDMLYCDAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 3 of these genesACAD9HADHAHADHAbout this report →
- Inherited Neurodegenerative DisordersReads 14 of these genesDNM1LEARS2FARS2MT-ND1MT-ND4MT-ND5About this report →
- Biotinidase & Holocarboxylase DeficiencyReads 1 of these genesHLCSAbout this report →
- CitrullinemiaReads 1 of these genesSLC25A13About this report →
- CystinuriaReads 1 of these genesSLC3A1About 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 →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Urea Cycle DisorderReads 2 of these genesSLC25A13CA5AAbout this report →
- Methylmalonic & Propionic AcidemiaReads 2 of these genesPCCAPCCBAbout this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesMARS1SCO2SURF1MPV17About this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Vanishing White Matter DiseaseReads 1 of these genesAARS2About this report →
- Left Ventricular NoncompactionReads 1 of these genesMIPEPAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHDAbout this report →
- HyperinsulinismReads 1 of these genesHADHAbout this report →
- Type I InterferonopathiesReads 1 of these genesUSP18About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Female InfertilityReads 2 of these genesLARS2MRPS22About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCOQ8APMPCAAbout this report →
- Hypertrophic CardiomyopathyReads 2 of these genesSLC25A3HADHAAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesEARS2AARS2About this report →
- Congenital MyopathiesReads 1 of these genesRYR1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesPREPLAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesNDUFB11About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesUSP18About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesWARS2About this report →
- DNA Repair DiseaseReads 1 of these genesAPTXAbout this report →
- Epilepsy (Full Panel)Reads 2 of these genesALDH7A1PLPBPAbout this report →
- Dilated CardiomyopathyReads 1 of these genesTAFAZZINAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesFARS2About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC37A4About this report →
Lees de genen die aan Increased lactate in body gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen202 genen gekoppeld aan Increased lactate in body
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Increased lactate in body voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Altijd | In 2 aandoeningen |
| AGKacylglycerol kinase | Altijd | In 2 aandoeningen |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Altijd | In 2 aandoeningen |
| BOLA3bolA family member 3 | Altijd | In 1 aandoening |
| COA6cytochrome c oxidase assembly factor 6 | Altijd | In 1 aandoening |
| COQ9coenzyme Q9 | Altijd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altijd | In 2 aandoeningen |
| COX15cytochrome c oxidase assembly factor COX15 | Altijd | In 2 aandoeningen |
| COX6B1cytochrome c oxidase subunit 6B1 | Altijd | In 2 aandoeningen |
| COX8Acytochrome c oxidase subunit 8A | Altijd | In 1 aandoening |
| COXFA4cytochrome c oxidase associated subunit FA4 | Altijd | In 1 aandoening |
| CYC1cytochrome c1 | Altijd | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| ETHE1ETHE1 persulfide dioxygenase | Altijd | In 2 aandoeningen |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altijd | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| FDX2ferredoxin 2 | Altijd | In 1 aandoening |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Altijd | In 2 aandoeningen |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Altijd | In 1 aandoening |
| GATBglutamyl-tRNA amidotransferase subunit B | Altijd | In 1 aandoening |
| GATCglutamyl-tRNA amidotransferase subunit C | Altijd | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Altijd | In 2 aandoeningen |
| HLCSholocarboxylase synthetase | Altijd | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Altijd | In 2 aandoeningen |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| LIASlipoic acid synthetase | Altijd | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Altijd | In 2 aandoeningen |
| LYRM4LYR motif containing 4 | Altijd | In 1 aandoening |
| LYRM7LYR motif containing 7 | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altijd | In 1 aandoening |
| MIPEPmitochondrial intermediate peptidase | Altijd | In 1 aandoening |
| MRPS14mitochondrial ribosomal protein S14 | Altijd | In 1 aandoening |
| MRPS16mitochondrial ribosomal protein S16 | Altijd | In 1 aandoening |
| MRPS22mitochondrial ribosomal protein S22 | Altijd | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Altijd | In 1 aandoening |
Toon nog 162 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altijd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altijd | In 3 aandoeningen |
| MTO1mitochondrial tRNA translation optimization 1 | Altijd | In 2 aandoeningen |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Altijd | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Altijd | In 2 aandoeningen |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Altijd | In 2 aandoeningen |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Altijd | In 2 aandoeningen |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altijd | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Altijd | In 2 aandoeningen |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Altijd | In 2 aandoeningen |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Altijd | In 2 aandoeningen |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Altijd | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Altijd | In 2 aandoeningen |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Altijd | In 2 aandoeningen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Altijd | In 2 aandoeningen |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Altijd | In 2 aandoeningen |
| NFU1NFU1 iron-sulfur cluster scaffold | Altijd | In 2 aandoeningen |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Altijd | In 1 aandoening |
| PCpyruvate carboxylase | Altijd | In 1 aandoening |
| PCK1phosphoenolpyruvate carboxykinase 1 | Altijd | In 2 aandoeningen |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 2 aandoeningen |
| PDHBpyruvate dehydrogenase E1 subunit beta | Altijd | In 2 aandoeningen |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Altijd | In 2 aandoeningen |
| PET100PET100 cytochrome c oxidase chaperone | Altijd | In 1 aandoening |
| PNPLA8patatin like domain 8, phospholipase A2 | Altijd | In 1 aandoening |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Altijd | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Altijd | In 2 aandoeningen |
| SCO1synthesis of cytochrome C oxidase 1 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 2 aandoeningen |
| SDHDsuccinate dehydrogenase complex subunit D | Altijd | In 1 aandoening |
| SFXN4sideroflexin 4 | Altijd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Altijd | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Altijd | In 2 aandoeningen |
| SLC25A42solute carrier family 25 member 42 | Altijd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 3 aandoeningen |
| SLC52A1solute carrier family 52 member 1 | Altijd | In 1 aandoening |
| SQORsulfide quinone oxidoreductase | Altijd | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Altijd | In 2 aandoeningen |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altijd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Altijd | In 1 aandoening |
| TMEM70transmembrane protein 70 | Altijd | In 1 aandoening |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Altijd | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Altijd | In 1 aandoening |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altijd | In 1 aandoening |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Altijd | In 1 aandoening |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Altijd | In 1 aandoening |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Altijd | In 2 aandoeningen |
| DLDdihydrolipoamide dehydrogenase | Heel vaak (80–99%) | In 2 aandoeningen |
| FBP1fructose-bisphosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Heel vaak (80–99%) | In 3 aandoeningen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Heel vaak (80–99%) | In 2 aandoeningen |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Heel vaak (80–99%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Heel vaak (80–99%) | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SERAC1serine active site containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A13solute carrier family 25 member 13 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A3solute carrier family 25 member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| TANGO2transport and golgi organization 2 homolog | Heel vaak (80–99%) | In 2 aandoeningen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| TKFCtriokinase and FMN cyclase | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM126Btransmembrane protein 126B | Heel vaak (80–99%) | In 2 aandoeningen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| ATP5F1DATP synthase F1 subunit delta | Vaak (30–79%) | In 2 aandoeningen |
| ATP5F1EATP synthase F1 subunit epsilon | Vaak (30–79%) | In 2 aandoeningen |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Vaak (30–79%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| C1QBPcomplement C1q binding protein | Vaak (30–79%) | In 1 aandoening |
| CAMKMTcalmodulin-lysine N-methyltransferase | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| DAP3death associated protein 3 | Vaak (30–79%) | In 1 aandoening |
| ELAC2elaC ribonuclease Z 2 | Vaak (30–79%) | In 1 aandoening |
| GFERgrowth factor, augmenter of liver regeneration | Vaak (30–79%) | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Vaak (30–79%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IVDisovaleryl-CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| LIG3DNA ligase 3 | Vaak (30–79%) | In 1 aandoening |
| LIPT2lipoyl(octanoyl) transferase 2 | Vaak (30–79%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MRPS7mitochondrial ribosomal protein S7 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 1 aandoening |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Vaak (30–79%) | In 1 aandoening |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | Vaak (30–79%) | In 2 aandoeningen |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Vaak (30–79%) | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Vaak (30–79%) | In 1 aandoening |
| PREPLprolyl endopeptidase like | Vaak (30–79%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Vaak (30–79%) | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Vaak (30–79%) | In 1 aandoening |
| TPK1thiamin pyrophosphokinase 1 | Vaak (30–79%) | In 1 aandoening |
| TRNT1tRNA nucleotidyl transferase 1 | Vaak (30–79%) | In 1 aandoening |
| TYMPthymidine phosphorylase | Vaak (30–79%) | In 2 aandoeningen |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| COQ8Acoenzyme Q8A | Soms (5–29%) | In 2 aandoeningen |
| HADHhydroxyacyl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| USP18ubiquitin specific peptidase 18 | Soms (5–29%) | In 1 aandoening |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Zelden (1–4%) | In 1 aandoening |
| FHfumarate hydratase | Zelden (1–4%) | In 2 aandoeningen |
| MT-CYBmitochondrially encoded cytochrome b | Zelden (1–4%) | In 2 aandoeningen |
| PHKBphosphorylase kinase regulatory subunit beta | Zelden (1–4%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Zelden (1–4%) | In 2 aandoeningen |
| PLPBPpyridoxal phosphate binding protein | Zelden (1–4%) | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Niet vastgelegd | In 1 aandoening |
| CA5Acarbonic anhydrase 5A | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| ISCUiron-sulfur cluster assembly enzyme | Niet vastgelegd | In 1 aandoening |
| LARS1leucyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| LIPT1lipoyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| MLYCDmalonyl-CoA decarboxylase | Niet vastgelegd | In 1 aandoening |
| MPC1mitochondrial pyruvate carrier 1 | Niet vastgelegd | In 1 aandoening |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Niet vastgelegd | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Niet vastgelegd | In 1 aandoening |
| NAXENAD(P)HX epimerase | Niet vastgelegd | In 1 aandoening |
| PCCApropionyl-CoA carboxylase subunit alpha | Niet vastgelegd | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Niet vastgelegd | In 1 aandoening |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Niet vastgelegd | In 1 aandoening |
| TK2thymidine kinase 2 | Niet vastgelegd | In 1 aandoening |
| TRMUtRNA mitochondrial 2-thiouridylase | Niet vastgelegd | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| TUFMTu translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.19-9814e911.
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Gratis verzending · Resultaten binnen 6–8 weken
