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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 alpha 1 subunit JBrowse link X 15,699,924 15,718,908 RGD:9068941
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 8,935,081 9,002,774 RGD:7240710
RGD:9068941
French Canadian Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC110256505 surfeit locus protein 1 JBrowse link 1 272,965,637 272,970,516 RGD:9068941
G LRPPRC leucine rich pentatricopeptide repeat containing JBrowse link 3 96,474,510 96,590,706 RGD:7240710
RGD:9068941
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIAS lipoic acid synthetase JBrowse link 8 30,699,278 30,717,009 RGD:7240710
RGD:9068941
G RPL9 ribosomal protein L9 JBrowse link 8 30,693,198 30,699,189 RGD:9068941
G UGDH UDP-glucose 6-dehydrogenase JBrowse link 8 30,725,281 30,759,359 RGD:9068941
Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G ATP8 ATP synthase F0 subunit 8 JBrowse link MT 8,959 9,162 RGD:9068941
G BCS1L BCS1-like (S. cerevisiae) JBrowse link 15 120,707,770 120,711,794 RGD:7240710
RGD:9068941
G COX1 cytochrome c oxidase subunit I JBrowse link MT 6,511 8,055 RGD:9068941
G COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) JBrowse link 12 58,011,831 58,110,575 RGD:7240710
RGD:9068941
G COX2 cytochrome c oxidase subunit II JBrowse link MT 8,203 8,890 RGD:9068941
G COX3 cytochrome c oxidase subunit III JBrowse link MT 9,800 10,583 RGD:9068941
G CYTB cytochrome b JBrowse link MT 15,342 16,481 RGD:9068941
G DLD dihydrolipoamide dehydrogenase JBrowse link 9 107,642,129 107,668,443 RGD:9068941
G ECHS1 enoyl-CoA hydratase, short chain 1 JBrowse link 14 141,340,320 141,348,870 RGD:9068941
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 16 39,704,602 39,770,330 RGD:9068941
G FASTKD2 FAST kinase domains 2 JBrowse link 15 110,021,398 110,041,730 RGD:9068941
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 9 53,365,260 53,372,955 RGD:9068941
G GAMT guanidinoacetate N-methyltransferase JBrowse link 2 77,076,566 77,079,751 RGD:9068941
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 10 9,685,641 9,739,816 RGD:9068941
G LAMB1 laminin subunit beta 1 JBrowse link 9 107,670,120 107,747,242 RGD:9068941
G LOC100156375 cytochrome c oxidase assembly protein COX15 homolog JBrowse link 14 110,875,614 110,895,044 RGD:7240710
RGD:9068941
G LOC100517855 protein SCO1 homolog, mitochondrial JBrowse link 12 55,406,730 55,424,120 RGD:9068941
G LOC110256505 surfeit locus protein 1 JBrowse link 1 272,965,637 272,970,516 RGD:7240710
RGD:9068941
G LRPPRC leucine rich pentatricopeptide repeat containing JBrowse link 3 96,474,510 96,590,706 RGD:9068941
G MRPS34 mitochondrial ribosomal protein S34 JBrowse link 3 40,194,078 40,195,316 RGD:9068941
G MTFMT mitochondrial methionyl-tRNA formyltransferase JBrowse link 1 106,970,620 107,001,563 RGD:9068941
G ND1 NADH dehydrogenase subunit 1 JBrowse link MT 3,922 4,876 RGD:9068941
G ND2 NADH dehydrogenase subunit 2 JBrowse link MT 5,087 6,128 RGD:9068941
G ND3 NADH dehydrogenase subunit 3 JBrowse link MT 10,653 10,998 RGD:9068941
G ND4 NADH dehydrogenase subunit 4 JBrowse link MT 11,359 12,736 RGD:9068941
G ND4L NADH dehydrogenase subunit 4L JBrowse link MT 11,069 11,365 RGD:9068941
G ND5 NADH dehydrogenase subunit 5 JBrowse link MT 12,935 14,755 RGD:9068941
G ND6 NADH dehydrogenase subunit 6 JBrowse link MT 14,739 15,266 RGD:9068941
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 15 138,999,174 139,031,892 RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 16 39,770,398 39,950,786 RGD:9068941
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 17 22,480,344 22,508,804 RGD:9068941
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 4 41,619,480 41,655,682 RGD:9068941
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 15 109,413,726 109,451,813 RGD:9068941
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 4 89,246,958 89,257,090 RGD:9068941
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 2 15,031,147 15,036,880 RGD:9068941
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 16 32,874,418 32,985,638 RGD:9068941
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 2 77,080,311 77,087,141 RGD:9068941
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 2 4,863,295 4,867,392 RGD:9068941
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 2 4,958,508 4,964,211 RGD:9068941
G PARL presenilin associated rhomboid like JBrowse link 13 121,758,734 121,813,679 RGD:9068941
G SDHA succinate dehydrogenase complex flavoprotein subunit A JBrowse link 16 79,838,442 79,862,956 RGD:7240710
RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G TACO1 translational activator of cytochrome c oxidase 1 JBrowse link 12 15,308,309 15,312,906 RGD:9068941
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 JBrowse link 2 4,844,627 4,860,562 RGD:9068941
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 13 140,728,559 140,758,698 RGD:9068941
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 9 53,365,260 53,372,955 RGD:9068941
G MTFMT mitochondrial methionyl-tRNA formyltransferase JBrowse link 1 106,970,620 107,001,563 RGD:9068941
G ND2 NADH dehydrogenase subunit 2 JBrowse link MT 5,087 6,128 RGD:9068941
G ND3 NADH dehydrogenase subunit 3 JBrowse link MT 10,653 10,998 RGD:9068941
G ND5 NADH dehydrogenase subunit 5 JBrowse link MT 12,935 14,755 RGD:9068941
G ND6 NADH dehydrogenase subunit 6 JBrowse link MT 14,739 15,266 RGD:9068941
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 15 138,999,174 139,031,892 RGD:9068941
G NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 5 88,292,760 88,317,111 RGD:9068941
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 2 142,359,000 142,361,126 RGD:9068941
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 5 65,760,078 65,788,703 RGD:9068941
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 16 39,770,398 39,950,786 RGD:9068941
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 4 41,619,480 41,655,682 RGD:9068941
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 2 15,031,147 15,036,880 RGD:9068941
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 16 32,874,418 32,985,638 RGD:9068941
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 2 77,080,311 77,087,141 RGD:9068941
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 2 4,863,295 4,867,392 RGD:9068941
G TMCO6 transmembrane and coiled-coil domains 6 JBrowse link 2 142,352,006 142,359,040 RGD:9068941
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 16 79,838,442 79,862,956 RGD:9068941
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCS1L BCS1-like (S. cerevisiae) JBrowse link 15 120,707,770 120,711,794 RGD:9068941
Leigh Syndrome due to Mitochondrial Complex IV Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) JBrowse link 12 58,011,831 58,110,575 RGD:9068941
G LOC100156375 cytochrome c oxidase assembly protein COX15 homolog JBrowse link 14 110,875,614 110,895,044 RGD:9068941
G LOC110256505 surfeit locus protein 1 JBrowse link 1 272,965,637 272,970,516 RGD:9068941
Leigh Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDHA1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 15,699,924 15,718,908 RGD:9068941
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COCH cochlin JBrowse link 7 68,580,124 68,595,142 RGD:9068941
G LIPT1 lipoyltransferase 1 JBrowse link 3 55,176,387 55,177,508 RGD:9068941
G MITD1 microtubule interacting and trafficking domain containing 1 JBrowse link 3 55,054,475 55,078,180 RGD:9068941
G TP53 tumor protein p53 JBrowse link 12 52,939,643 52,953,786 RGD:9068941
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
G ND1 NADH dehydrogenase subunit 1 JBrowse link MT 3,922 4,876 RGD:9068941
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MPC1 mitochondrial pyruvate carrier 1 JBrowse link 1 2,541,475 2,552,864 RGD:7240710
RGD:9068941
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 14 141,340,320 141,348,870 RGD:7240710
RGD:9068941
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRL neural retina leucine zipper JBrowse link 7 75,199,048 75,211,655 RGD:9068941
G PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial JBrowse link 7 75,187,195 75,197,613 RGD:7240710
RGD:9068941
pyruvate carboxylase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PC pyruvate carboxylase JBrowse link 2 5,566,608 5,587,797 RGD:7240710
RGD:9068941
pyruvate decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APIP APAF1 interacting protein JBrowse link 2 26,095,020 26,115,462 RGD:9068941
G DLAT dihydrolipoamide S-acetyltransferase JBrowse link 9 39,738,639 39,763,813 RGD:9068941
G DLD dihydrolipoamide dehydrogenase JBrowse link 9 107,642,129 107,668,443 RGD:9068941
G LAMB1 laminin subunit beta 1 JBrowse link 9 107,670,120 107,747,242 RGD:9068941
G PDHA1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 15,699,924 15,718,908 RGD:7240710
RGD:9068941
G PDHB pyruvate dehydrogenase E1 beta subunit JBrowse link 13 40,161,519 40,167,502 RGD:9068941
G PDHX pyruvate dehydrogenase complex component X JBrowse link 2 26,014,954 26,094,895 RGD:9068941
G PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 4 42,769,232 42,777,936 RGD:9068941
G PIH1D2 PIH1 domain containing 2 JBrowse link 9 39,767,708 39,775,477 RGD:9068941
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 59,748,685 59,861,018 RGD:9068941
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDHA1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 15,699,924 15,718,908 RGD:9068941
G PDHX pyruvate dehydrogenase complex component X JBrowse link 2 26,014,954 26,094,895 RGD:9068941
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDHB pyruvate dehydrogenase E1 beta subunit JBrowse link 13 40,161,519 40,167,502 RGD:7240710
RGD:9068941
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DLAT dihydrolipoamide S-acetyltransferase JBrowse link 9 39,738,639 39,763,813 RGD:7240710
RGD:9068941
G PIH1D2 PIH1 domain containing 2 JBrowse link 9 39,767,708 39,775,477 RGD:9068941
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 2 26,014,954 26,094,895 RGD:7240710
RGD:9068941
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 4 94,545,919 94,560,105 RGD:9068941
G PKLR pyruvate kinase L/R JBrowse link 4 94,536,978 94,546,561 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12020
    Nutritional and Metabolic Diseases 3329
      disease of metabolism 3329
        inherited metabolic disorder 1681
          carbohydrate metabolic disorder 320
            Pyruvate Metabolism, Inborn Errors 72
              Hyperglycinemia, Lactic Acidosis, and Seizures 3
              Leigh disease + 56
              mitochondrial pyruvate carrier deficiency 1
              pyruvate carboxylase deficiency disease + 1
              pyruvate decarboxylase deficiency + 12
              pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 12020
    Developmental Diseases 8318
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7142
        genetic disease 6661
          inherited metabolic disorder 1681
            carbohydrate metabolic disorder 320
              Pyruvate Metabolism, Inborn Errors 72
                Hyperglycinemia, Lactic Acidosis, and Seizures 3
                Leigh disease + 56
                mitochondrial pyruvate carrier deficiency 1
                pyruvate carboxylase deficiency disease + 1
                pyruvate decarboxylase deficiency + 12
                pyruvate kinase deficiency of red cells 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.