Merkmal
Increased lactate in body
Klinische Bezeichnung: Lactic acidosis
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Zusammenfassung
- Auch genannt
- Hyperlacticacidemia, Lactic acidemia, Lacticacidemia, Lacticacidosis
- Körpersystem
- Laboratory abnormality
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page$trait$nameLesen Sie die Gene aus, die mit Increased lactate in body zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen 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 →
Lesen Sie die Gene aus, die mit Increased lactate in body zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen202 Gene mit Increased lactate in body verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Increased lactate in body auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Immer | In 2 Erkrankungen |
| AGKacylglycerol kinase | Immer | In 2 Erkrankungen |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Immer | In 2 Erkrankungen |
| BOLA3bolA family member 3 | Immer | In 1 Erkrankung |
| COA6cytochrome c oxidase assembly factor 6 | Immer | In 1 Erkrankung |
| COQ9coenzyme Q9 | Immer | In 1 Erkrankung |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Immer | In 2 Erkrankungen |
| COX15cytochrome c oxidase assembly factor COX15 | Immer | In 2 Erkrankungen |
| COX6B1cytochrome c oxidase subunit 6B1 | Immer | In 2 Erkrankungen |
| COX8Acytochrome c oxidase subunit 8A | Immer | In 1 Erkrankung |
| COXFA4cytochrome c oxidase associated subunit FA4 | Immer | In 1 Erkrankung |
| CYC1cytochrome c1 | Immer | In 1 Erkrankung |
| DGUOKdeoxyguanosine kinase | Immer | In 1 Erkrankung |
| DNM1Ldynamin 1L | Immer | In 1 Erkrankung |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Immer | In 1 Erkrankung |
| ETHE1ETHE1 persulfide dioxygenase | Immer | In 2 Erkrankungen |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Immer | In 1 Erkrankung |
| FBXL4F-box and leucine rich repeat protein 4 | Immer | In 1 Erkrankung |
| FDX2ferredoxin 2 | Immer | In 1 Erkrankung |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Immer | In 2 Erkrankungen |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Immer | In 1 Erkrankung |
| GATBglutamyl-tRNA amidotransferase subunit B | Immer | In 1 Erkrankung |
| GATCglutamyl-tRNA amidotransferase subunit C | Immer | In 1 Erkrankung |
| GTPBP3GTP binding protein 3, mitochondrial | Immer | In 2 Erkrankungen |
| HLCSholocarboxylase synthetase | Immer | In 1 Erkrankung |
| IBA57iron-sulfur cluster assembly factor IBA57 | Immer | In 2 Erkrankungen |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| LIASlipoic acid synthetase | Immer | In 1 Erkrankung |
| LRPPRCleucine rich pentatricopeptide repeat containing | Immer | In 2 Erkrankungen |
| LYRM4LYR motif containing 4 | Immer | In 1 Erkrankung |
| LYRM7LYR motif containing 7 | Immer | In 1 Erkrankung |
| MARS1methionyl-tRNA synthetase 1 | Immer | In 1 Erkrankung |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Immer | In 1 Erkrankung |
| MIPEPmitochondrial intermediate peptidase | Immer | In 1 Erkrankung |
| MRPS14mitochondrial ribosomal protein S14 | Immer | In 1 Erkrankung |
| MRPS16mitochondrial ribosomal protein S16 | Immer | In 1 Erkrankung |
| MRPS22mitochondrial ribosomal protein S22 | Immer | In 1 Erkrankung |
| MRPS34mitochondrial ribosomal protein S34 | Immer | In 1 Erkrankung |
162 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Immer | In 1 Erkrankung |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Immer | In 3 Erkrankungen |
| MTO1mitochondrial tRNA translation optimization 1 | Immer | In 2 Erkrankungen |
| NDUFA10NADH:ubiquinone oxidoreductase subunit A10 | Immer | In 1 Erkrankung |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Immer | In 2 Erkrankungen |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Immer | In 2 Erkrankungen |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Immer | In 2 Erkrankungen |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Immer | In 1 Erkrankung |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Immer | In 2 Erkrankungen |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Immer | In 2 Erkrankungen |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Immer | In 2 Erkrankungen |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Immer | In 1 Erkrankung |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Immer | In 2 Erkrankungen |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Immer | In 2 Erkrankungen |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Immer | In 2 Erkrankungen |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Immer | In 2 Erkrankungen |
| NFU1NFU1 iron-sulfur cluster scaffold | Immer | In 2 Erkrankungen |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Immer | In 1 Erkrankung |
| PCpyruvate carboxylase | Immer | In 1 Erkrankung |
| PCK1phosphoenolpyruvate carboxykinase 1 | Immer | In 2 Erkrankungen |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Immer | In 2 Erkrankungen |
| PDHBpyruvate dehydrogenase E1 subunit beta | Immer | In 2 Erkrankungen |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Immer | In 2 Erkrankungen |
| PET100PET100 cytochrome c oxidase chaperone | Immer | In 1 Erkrankung |
| PNPLA8patatin like domain 8, phospholipase A2 | Immer | In 1 Erkrankung |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Immer | In 1 Erkrankung |
| RFC4replication factor C subunit 4 | Immer | In 1 Erkrankung |
| RMND1required for meiotic nuclear division 1 homolog | Immer | In 1 Erkrankung |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Immer | In 2 Erkrankungen |
| SCO1synthesis of cytochrome C oxidase 1 | Immer | In 1 Erkrankung |
| SCO2synthesis of cytochrome C oxidase 2 | Immer | In 2 Erkrankungen |
| SDHDsuccinate dehydrogenase complex subunit D | Immer | In 1 Erkrankung |
| SFXN4sideroflexin 4 | Immer | In 1 Erkrankung |
| SLC25A19solute carrier family 25 member 19 | Immer | In 1 Erkrankung |
| SLC25A4solute carrier family 25 member 4 | Immer | In 2 Erkrankungen |
| SLC25A42solute carrier family 25 member 42 | Immer | In 1 Erkrankung |
| SLC37A4solute carrier family 37 member 4 | Immer | In 3 Erkrankungen |
| SLC52A1solute carrier family 52 member 1 | Immer | In 1 Erkrankung |
| SQORsulfide quinone oxidoreductase | Immer | In 1 Erkrankung |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Immer | In 2 Erkrankungen |
| SURF1SURF1 cytochrome c oxidase assembly factor | Immer | In 1 Erkrankung |
| TACO1translational activator of cytochrome c oxidase I | Immer | In 1 Erkrankung |
| TMEM70transmembrane protein 70 | Immer | In 1 Erkrankung |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Immer | In 1 Erkrankung |
| TRMT5tRNA methyltransferase 5 | Immer | In 1 Erkrankung |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Immer | In 1 Erkrankung |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Immer | In 1 Erkrankung |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Immer | In 1 Erkrankung |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| YARS2tyrosyl-tRNA synthetase 2 | Immer | In 2 Erkrankungen |
| DLDdihydrolipoamide dehydrogenase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| FBP1fructose-bisphosphatase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MPV17mitochondrial inner membrane protein MPV17 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PUS1pseudouridine synthase 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SERAC1serine active site containing 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SLC25A13solute carrier family 25 member 13 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SLC25A3solute carrier family 25 member 3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TANGO2transport and golgi organization 2 homolog | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TKFCtriokinase and FMN cyclase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TMEM126Btransmembrane protein 126B | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| ATP5F1AATP synthase F1 subunit alpha | Häufig (30–79 %) | In 2 Erkrankungen |
| ATP5F1DATP synthase F1 subunit delta | Häufig (30–79 %) | In 2 Erkrankungen |
| ATP5F1EATP synthase F1 subunit epsilon | Häufig (30–79 %) | In 2 Erkrankungen |
| ATP5MKATP synthase membrane subunit k | Häufig (30–79 %) | In 1 Erkrankung |
| ATP5POATP synthase peripheral stalk subunit OSCP | Häufig (30–79 %) | In 1 Erkrankung |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Häufig (30–79 %) | In 1 Erkrankung |
| C1QBPcomplement C1q binding protein | Häufig (30–79 %) | In 1 Erkrankung |
| CAMKMTcalmodulin-lysine N-methyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| COA8cytochrome c oxidase assembly factor 8 | Häufig (30–79 %) | In 1 Erkrankung |
| DAP3death associated protein 3 | Häufig (30–79 %) | In 1 Erkrankung |
| ELAC2elaC ribonuclease Z 2 | Häufig (30–79 %) | In 1 Erkrankung |
| GFERgrowth factor, augmenter of liver regeneration | Häufig (30–79 %) | In 1 Erkrankung |
| GFM1G elongation factor mitochondrial 1 | Häufig (30–79 %) | In 1 Erkrankung |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Häufig (30–79 %) | In 1 Erkrankung |
| IVDisovaleryl-CoA dehydrogenase | Häufig (30–79 %) | In 1 Erkrankung |
| LIG3DNA ligase 3 | Häufig (30–79 %) | In 1 Erkrankung |
| LIPT2lipoyl(octanoyl) transferase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| LONP1lon peptidase 1, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| MRPS7mitochondrial ribosomal protein S7 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Häufig (30–79 %) | In 1 Erkrankung |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Häufig (30–79 %) | In 1 Erkrankung |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| PDHXpyruvate dehydrogenase complex component X | Häufig (30–79 %) | In 2 Erkrankungen |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| POLGDNA polymerase gamma, catalytic subunit | Häufig (30–79 %) | In 2 Erkrankungen |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Häufig (30–79 %) | In 1 Erkrankung |
| PREPLprolyl endopeptidase like | Häufig (30–79 %) | In 1 Erkrankung |
| SLC3A1solute carrier family 3 member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Häufig (30–79 %) | In 1 Erkrankung |
| TPK1thiamin pyrophosphokinase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TRNT1tRNA nucleotidyl transferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| TYMPthymidine phosphorylase | Häufig (30–79 %) | In 2 Erkrankungen |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 2 Erkrankungen |
| COQ8Acoenzyme Q8A | Manchmal (5–29 %) | In 2 Erkrankungen |
| HADHhydroxyacyl-CoA dehydrogenase | Manchmal (5–29 %) | In 1 Erkrankung |
| PMPCApeptidase, mitochondrial processing subunit alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| RYR1ryanodine receptor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| USP18ubiquitin specific peptidase 18 | Manchmal (5–29 %) | In 1 Erkrankung |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Selten (1–4 %) | In 1 Erkrankung |
| FHfumarate hydratase | Selten (1–4 %) | In 2 Erkrankungen |
| MT-CYBmitochondrially encoded cytochrome b | Selten (1–4 %) | In 2 Erkrankungen |
| PHKBphosphorylase kinase regulatory subunit beta | Selten (1–4 %) | In 1 Erkrankung |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Selten (1–4 %) | In 2 Erkrankungen |
| PLPBPpyridoxal phosphate binding protein | Selten (1–4 %) | In 1 Erkrankung |
| ALDOBaldolase, fructose-bisphosphate B | Nicht erfasst | In 1 Erkrankung |
| APTXaprataxin | Nicht erfasst | In 1 Erkrankung |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Nicht erfasst | In 1 Erkrankung |
| CA5Acarbonic anhydrase 5A | Nicht erfasst | In 1 Erkrankung |
| COQ2coenzyme Q2, polyprenyltransferase | Nicht erfasst | In 1 Erkrankung |
| DLATdihydrolipoamide S-acetyltransferase | Nicht erfasst | In 1 Erkrankung |
| ISCUiron-sulfur cluster assembly enzyme | Nicht erfasst | In 1 Erkrankung |
| LARS1leucyl-tRNA synthetase 1 | Nicht erfasst | In 1 Erkrankung |
| LIPT1lipoyltransferase 1 | Nicht erfasst | In 1 Erkrankung |
| MLYCDmalonyl-CoA decarboxylase | Nicht erfasst | In 1 Erkrankung |
| MPC1mitochondrial pyruvate carrier 1 | Nicht erfasst | In 1 Erkrankung |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Nicht erfasst | In 1 Erkrankung |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nicht erfasst | In 1 Erkrankung |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nicht erfasst | In 1 Erkrankung |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nicht erfasst | In 1 Erkrankung |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nicht erfasst | In 1 Erkrankung |
| NAXENAD(P)HX epimerase | Nicht erfasst | In 1 Erkrankung |
| PCCApropionyl-CoA carboxylase subunit alpha | Nicht erfasst | In 1 Erkrankung |
| PCCBpropionyl-CoA carboxylase subunit beta | Nicht erfasst | In 1 Erkrankung |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Nicht erfasst | In 1 Erkrankung |
| TK2thymidine kinase 2 | Nicht erfasst | In 1 Erkrankung |
| TRMUtRNA mitochondrial 2-thiouridylase | Nicht erfasst | In 1 Erkrankung |
| TSFMTs translation elongation factor, mitochondrial | Nicht erfasst | In 1 Erkrankung |
| TUFMTu translation elongation factor, mitochondrial | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.19-9814e911.
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