Tunnus
Higher than normal levels of lactate in blood
Kliiniline nimetus: Increased circulating lactate concentration
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Kokkuvõte
- Teised nimetused
- Increased blood lactate, Increased serum lactate
- Kehasüsteem
- Laboratory abnormality
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Higher than normal levels of lactate in blood, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test234 geeni on seotud tunnusega Higher than normal levels of lactate in blood
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Higher than normal levels of lactate in blood. 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 |
|---|---|---|
| ACACAacetyl-CoA carboxylase alpha | Alati | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alati | Esineb 2 haiguses |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alati | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alati | Esineb 1 haiguses |
| CA5Acarbonic anhydrase 5A | Alati | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alati | Esineb 2 haiguses |
| COX11cytochrome c oxidase copper chaperone COX11 | Alati | Esineb 1 haiguses |
| COX14cytochrome c oxidase assembly factor COX14 | Alati | Esineb 1 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Alati | Esineb 1 haiguses |
| COX20cytochrome c oxidase assembly factor COX20 | Alati | Esineb 1 haiguses |
| COX5Acytochrome c oxidase subunit 5A | Alati | Esineb 1 haiguses |
| COX6A2cytochrome c oxidase subunit 6A2 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 2 haiguses |
| COX8Acytochrome c oxidase subunit 8A | Alati | Esineb 1 haiguses |
| CYC1cytochrome c1 | Alati | Esineb 1 haiguses |
| DTYMKdeoxythymidylate kinase | Alati | Esineb 1 haiguses |
| ECHS1enoyl-CoA hydratase, short chain 1 | Alati | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| FDX2ferredoxin 2 | Alati | Esineb 1 haiguses |
| GKglycerol kinase | Alati | Esineb 1 haiguses |
| GOT2glutamic-oxaloacetic transaminase 2 | Alati | Esineb 1 haiguses |
| GTPBP3GTP binding protein 3, mitochondrial | Alati | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Alati | Esineb 1 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 2 haiguses |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| LIASlipoic acid synthetase | Alati | Esineb 1 haiguses |
| LIPT1lipoyltransferase 1 | Alati | Esineb 1 haiguses |
| LIPT2lipoyl(octanoyl) transferase 2 | Alati | Esineb 1 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 |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Alati | Esineb 1 haiguses |
| MIPEPmitochondrial intermediate peptidase | Alati | Esineb 1 haiguses |
| MRPL12mitochondrial ribosomal protein L12 | Alati | Esineb 1 haiguses |
| MRPL3mitochondrial ribosomal protein L3 | Alati | Esineb 1 haiguses |
| MRPS14mitochondrial ribosomal protein S14 | Alati | Esineb 1 haiguses |
| MRPS16mitochondrial ribosomal protein S16 | Alati | Esineb 1 haiguses |
Näita veel 194 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MRPS2mitochondrial ribosomal protein S2 | Alati | Esineb 1 haiguses |
| MRPS28mitochondrial ribosomal protein S28 | Alati | Esineb 1 haiguses |
| MRPS34mitochondrial ribosomal protein S34 | Alati | Esineb 1 haiguses |
| MRPS7mitochondrial ribosomal protein S7 | Alati | Esineb 1 haiguses |
| MTO1mitochondrial tRNA translation optimization 1 | Alati | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Alati | Esineb 1 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Alati | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Alati | Esineb 1 haiguses |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alati | Esineb 1 haiguses |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alati | Esineb 1 haiguses |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alati | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alati | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alati | Esineb 1 haiguses |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alati | Esineb 1 haiguses |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Alati | Esineb 1 haiguses |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Alati | Esineb 1 haiguses |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Alati | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Alati | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alati | Esineb 1 haiguses |
| NFS1NFS1 cysteine desulfurase | Alati | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Alati | Esineb 2 haiguses |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Alati | Esineb 1 haiguses |
| OGDHoxoglutarate dehydrogenase | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 2 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alati | Esineb 2 haiguses |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Alati | Esineb 1 haiguses |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Alati | Esineb 1 haiguses |
| PET100PET100 cytochrome c oxidase chaperone | Alati | Esineb 1 haiguses |
| PET117PET117 cytochrome c oxidase chaperone | Alati | Esineb 1 haiguses |
| PNPLA8patatin like domain 8, phospholipase A2 | Alati | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alati | Esineb 2 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Alati | Esineb 3 haiguses |
| RMND1required for meiotic nuclear division 1 homolog | Alati | Esineb 1 haiguses |
| RRAGCRas related GTP binding C | Alati | Esineb 1 haiguses |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Alati | Esineb 2 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alati | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alati | Esineb 1 haiguses |
| SFXN4sideroflexin 4 | Alati | Esineb 1 haiguses |
| SLC25A10solute carrier family 25 member 10 | Alati | Esineb 1 haiguses |
| SLC25A12solute carrier family 25 member 12 | Alati | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Alati | Esineb 2 haiguses |
| SLC25A42solute carrier family 25 member 42 | Alati | Esineb 1 haiguses |
| SLC31A1solute carrier family 31 member 1 | Alati | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Alati | Esineb 1 haiguses |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Alati | Esineb 1 haiguses |
| TIMM22translocase of inner mitochondrial membrane 22 | Alati | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Alati | Esineb 1 haiguses |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Alati | Esineb 1 haiguses |
| TRMT5tRNA methyltransferase 5 | Alati | Esineb 1 haiguses |
| TRMUtRNA mitochondrial 2-thiouridylase | Alati | Esineb 1 haiguses |
| TSFMTs translation elongation factor, mitochondrial | 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 |
| UQCRBubiquinol-cytochrome c reductase binding protein | Alati | Esineb 1 haiguses |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Alati | Esineb 1 haiguses |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Alati | Esineb 1 haiguses |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alati | Esineb 1 haiguses |
| YARS1tyrosyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| YARS2tyrosyl-tRNA synthetase 2 | Alati | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Väga sageli (80–99%) | Esineb 3 haiguses |
| COQ4coenzyme Q4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLDdihydrolipoamide dehydrogenase | 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-CO1mitochondrially encoded cytochrome c oxidase I | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | 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-TFmitochondrially encoded tRNA-Phe (UUU/C) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Väga sageli (80–99%) | Esineb 5 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDHXpyruvate dehydrogenase complex component X | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SERAC1serine active site containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC25A3solute carrier family 25 member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| TANGO2transport and golgi organization 2 homolog | Väga sageli (80–99%) | Esineb 2 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TXN2thioredoxin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| ACAD9acyl-CoA dehydrogenase family member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP5F1AATP synthase F1 subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| C1QBPcomplement C1q binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 2 haiguses |
| CLPBClpB family mitochondrial disaggregase | Sageli (30–79%) | Esineb 2 haiguses |
| COQ8Acoenzyme Q8A | Sageli (30–79%) | Esineb 2 haiguses |
| COX4I1cytochrome c oxidase subunit 4I1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 2 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Sageli (30–79%) | Esineb 2 haiguses |
| GLRX5glutaredoxin 5 | Sageli (30–79%) | Esineb 2 haiguses |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Sageli (30–79%) | Esineb 1 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sageli (30–79%) | Esineb 2 haiguses |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Sageli (30–79%) | Esineb 1 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 1 haiguses |
| ISCA1iron-sulfur cluster assembly 1 | Sageli (30–79%) | Esineb 2 haiguses |
| KLC4kinesin light chain 4 | Sageli (30–79%) | Esineb 1 haiguses |
| LDB3LIM domain binding 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPL39mitochondrial ribosomal protein L39 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPL44mitochondrial ribosomal protein L44 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 2 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sageli (30–79%) | Esineb 3 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sageli (30–79%) | Esineb 1 haiguses |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Sageli (30–79%) | Esineb 2 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Sageli (30–79%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| PMPCBpeptidase, mitochondrial processing subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PNPOpyridoxamine 5'-phosphate oxidase | Sageli (30–79%) | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 6 haiguses |
| PPCSphosphopantothenoylcysteine synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS1pseudouridine synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| RNASEH1ribonuclease H1 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT2signal transducer and activator of transcription 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TPK1thiamin pyrophosphokinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Sageli (30–79%) | Esineb 5 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| YME1L1YME1 like 1 ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| ACAT1acetyl-CoA acetyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IFT56intraflagellar transport 56 | 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 |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PITRM1pitrilysin metallopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRORPprotein only RNase P catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RARS1arginyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPB1beta-ureidopropionase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACAT2acetyl-CoA acetyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Pole registreeritud | Esineb 1 haiguses |
| AGKacylglycerol kinase | Pole registreeritud | Esineb 1 haiguses |
| AMPD1adenosine monophosphate deaminase 1 | Pole registreeritud | Esineb 1 haiguses |
| AMPD3adenosine monophosphate deaminase 3 | Pole registreeritud | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Pole registreeritud | Esineb 1 haiguses |
| COQ9coenzyme Q9 | Pole registreeritud | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Pole registreeritud | Esineb 1 haiguses |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| GFM1G elongation factor mitochondrial 1 | Pole registreeritud | Esineb 1 haiguses |
| GYS2glycogen synthase 2 | Pole registreeritud | Esineb 1 haiguses |
| HTRA2HtrA serine peptidase 2 | Pole registreeritud | Esineb 1 haiguses |
| ISCUiron-sulfur cluster assembly enzyme | Pole registreeritud | Esineb 1 haiguses |
| LDHAlactate dehydrogenase A | Pole registreeritud | Esineb 1 haiguses |
| MPC1mitochondrial pyruvate carrier 1 | Pole registreeritud | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Pole registreeritud | Esineb 1 haiguses |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Pole registreeritud | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Pole registreeritud | Esineb 1 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Pole registreeritud | Esineb 1 haiguses |
| PCpyruvate carboxylase | Pole registreeritud | Esineb 1 haiguses |
| SLC25A26solute carrier family 25 member 26 | Pole registreeritud | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Pole registreeritud | Esineb 1 haiguses |
| SURF1SURF1 cytochrome c oxidase assembly factor | Pole registreeritud | Esineb 2 haiguses |
| SYNJ1synaptojanin 1 | Pole registreeritud | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Pole registreeritud | Esineb 1 haiguses |
| TUFMTu translation elongation factor, mitochondrial | 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.
Kitsamad tunnused
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast