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Increased circulating pyruvate concentration
The concentration of pyruvate in the blood circulation is above the upper limit of normal.
Resumé
- Også kaldet
- Increased serum pyruvate, Increased serum pyruvic acid
- Kropssystem
- Laboratory abnormality
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Læs de gener, der er knyttet til Increased circulating pyruvate concentration, og resten af dit genom, med én test.
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Bestil min Genome Test25 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 36 of these genesAIFM1COX16NDUFS8NDUFV1UQCRC2FOXRED1About this report →
- Leigh SyndromeReads 23 of these genesAIFM1DLDNDUFS8NDUFV1PDHA1FOXRED1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 5 of these genesDLDPDHA1MPC1PCPDHXAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 25 of these genesAIFM1DLDNDUFS8NDUFV1PDHA1FOXRED1About this report →
Show 21 more reports
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesSDHBAbout this report →
- Maple Syrup Urine DiseaseReads 1 of these genesDLDAbout this report →
- Malignant Endocrine NeoplasmReads 1 of these genesSDHBAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesAIFM1MPV17SCO2About this report →
- Kidney CancerReads 1 of these genesSDHBAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHBAbout this report →
- Urinary and Renal System TumourReads 1 of these genesSDHBAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesMT-ND1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesPITRM1TWNKAbout this report →
- Glycogen Storage DiseaseReads 1 of these genesLDHAAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesMT-ND1POLGPITRM1TWNKAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesAIFM1KARS1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesNDUFB11About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Epilepsy (Full Panel)Reads 2 of these genesMECP2MT-TPAbout this report →
- Female InfertilityReads 1 of these genesTWNKAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMT-TIAbout this report →
- Intellectual DisabilityReads 1 of these genesMECP2About this report →
Læs de gener, der er knyttet til Increased circulating pyruvate concentration, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test65 gener knyttet til Increased circulating pyruvate concentration
Ændringer i disse gener forårsager sjældne tilstande, hvor Increased circulating pyruvate concentration ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 2 tilstande |
| COX16cytochrome c oxidase assembly factor COX16 | Altid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Altid | I 1 tilstand |
| COX6A2cytochrome c oxidase subunit 6A2 | Altid | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Altid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Altid | I 2 tilstande |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Altid | I 2 tilstande |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 2 tilstande |
| PNPLA8patatin like domain 8, phospholipase A2 | Altid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altid | I 1 tilstand |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Altid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Meget ofte (80–99 %) | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ofte (30–79 %) | I 1 tilstand |
Vis 25 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LIPT2lipoyl(octanoyl) transferase 2 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT2acetyl-CoA acetyltransferase 2 | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| LDHAlactate dehydrogenase A | Ikke registreret | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Ikke registreret | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registreret | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registreret | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registreret | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registreret | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registreret | I 1 tilstand |
| PCpyruvate carboxylase | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.19-9814e911.
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