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ONTOLOGY REPORT - ANNOTATIONS


Term:Pyruvate Metabolism, Inborn Errors
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Accession:DOID:9002994 term browser browse the term
Definition:Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
Synonyms:primary_id: MESH:D015323;   RDO:0001760
For additional species annotation, visit the Alliance of Genome Resources.


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Pyruvate Metabolism, Inborn Errors term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 JBrowse link X 37,329,779 37,343,410 RGD:11554173
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
French Canadian Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:7240710
RGD:8554872
RGD:11554173
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:11554173
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:7240710
RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:1598467
RGD:8554872
RGD:7240710
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:8554872
RGD:11554173
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:8554872
G Fastkd2 FAST kinase domains 2 JBrowse link 9 70,448,386 70,471,420 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:1600674
RGD:8554872
RGD:1600676
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:5507824
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L JBrowse link MT 9,870 10,166 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,736 13,565 RGD:5491185
RGD:8554872
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:6482231
RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 7 35,125,516 35,163,182 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:6482269
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:11554173
RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:6484662
RGD:8554872
RGD:12914767
RGD:12914766
RGD:11554173
RGD:6484698
RGD:6484669
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:13592920
G Sco1 synthesis of cytochrome C oxidase 1 JBrowse link 10 53,595,854 53,608,437 RGD:8554872
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:724604
RGD:8554872
RGD:7240710
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:13592920
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:1599193
RGD:8554872
RGD:7240710
RGD:11554173
G Taco1 translational activator of cytochrome c oxidase I JBrowse link 10 94,260,148 94,268,276 RGD:11554173
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:8554872
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 11 64,790,801 64,815,484 RGD:8554872
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 7 35,125,516 35,163,182 RGD:8554872
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:8554872
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 4 159,371,263 159,399,636 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:8554872
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Tmco6 transmembrane and coiled-coil domains 6 JBrowse link 18 29,579,145 29,585,740 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex II Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex IV Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
Leigh Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 JBrowse link X 37,329,779 37,343,410 RGD:8554872
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipt1 lipoyltransferase 1 JBrowse link 9 44,466,627 44,471,986 RGD:8554872
G Mitd1 microtubule interacting and trafficking domain containing 1 JBrowse link 9 44,472,364 44,483,723 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:5490262
RGD:11554173
RGD:5490270
RGD:5490291
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 2,740 3,694 RGD:5148009
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpc1 mitochondrial pyruvate carrier 1 JBrowse link 1 53,026,608 53,038,229 RGD:7240710
RGD:8554872
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:7240710
RGD:8554872
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) JBrowse link 15 34,216,735 34,224,357 RGD:8554872
RGD:7240710
pyruvate carboxylase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pc pyruvate carboxylase JBrowse link 1 219,759,157 219,859,854 RGD:737741
RGD:8554872
RGD:7240710
pyruvate decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apip APAF1 interacting protein JBrowse link 3 92,969,128 92,998,104 RGD:8554872
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:8554872
RGD:13592920
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 JBrowse link X 37,329,779 37,343,410 RGD:731230
RGD:8554872
RGD:13207454
RGD:13207453
RGD:11554173
RGD:7240710
G Pdhb pyruvate dehydrogenase E1 subunit beta JBrowse link 15 18,540,826 18,546,855 RGD:1599115
RGD:8554872
RGD:11554173
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:13592920
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:13592920
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhb pyruvate dehydrogenase E1 subunit beta JBrowse link 15 18,540,826 18,546,855 RGD:7240710
RGD:8554872
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:7240710
RGD:8554872
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:7240710
pyruvate kinase deficiency of red cells term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 JBrowse link 2 188,458,851 188,471,916 RGD:8554872
G Pklr pyruvate kinase L/R JBrowse link 2 188,449,158 188,458,034 RGD:7240710
RGD:8554872
RGD:11537470
RGD:11537382
RGD:11535996

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    Nutritional and Metabolic Diseases 4393
      disease of metabolism 4393
        inherited metabolic disorder 1908
          carbohydrate metabolic disorder 327
            Pyruvate Metabolism, Inborn Errors 71
              Hyperglycinemia, Lactic Acidosis, and Seizures 3
              Leigh disease + 56
              mitochondrial pyruvate carrier deficiency 1
              pyruvate carboxylase deficiency disease + 1
              pyruvate decarboxylase deficiency + 11
              pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 15610
    Developmental Diseases 8988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7804
        genetic disease 7299
          inherited metabolic disorder 1908
            carbohydrate metabolic disorder 327
              Pyruvate Metabolism, Inborn Errors 71
                Hyperglycinemia, Lactic Acidosis, and Seizures 3
                Leigh disease + 56
                mitochondrial pyruvate carrier deficiency 1
                pyruvate carboxylase deficiency disease + 1
                pyruvate decarboxylase deficiency + 11
                pyruvate kinase deficiency of red cells 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.