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ONTOLOGY REPORT - ANNOTATIONS


Term:pyruvate decarboxylase deficiency
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Accession:DOID:3649 term browser browse the term
Definition:An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
Synonyms:exact_synonym: Ataxia with Lactic Acidosis;   Ataxia with Lactic Acidosis I;   Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency;   Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency;   Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease;   Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease;   PDH Deficiency;   PDHAD;   PDHC Deficiency;   PDHC Deficiency Disease;   Pyruvate Dehydrogenase Complex Deficiency;   Pyruvate Dehydrogenase Complex Deficiency Disease;   Pyruvate Dehydrogenase Deficiency;   deficiency of pyruvic dehydrogenase;   intermittent ataxia with abnormal pyruvate metabolism;   type I ataxia with lactic acidosis
 narrow_synonym: LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
 primary_id: MESH:D015325
 alt_id: OMIA:001406;   OMIM:312170;   RDO:0001762
 xref: GARD:4620;   GARD:7513;   NCI:C103968;   OMIM:PS312170;   ORDO:79243
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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 alpha 1 subunit 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 beta subunit 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
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 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 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 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 beta subunit 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

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  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          pyruvate decarboxylase deficiency 12
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
            Pyruvate Dehydrogenase E1 Alpha Deficiency 2
            Pyruvate Dehydrogenase E1-Beta Deficiency 1
            Pyruvate Dehydrogenase E2 Deficiency 2
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
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Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        pyruvate decarboxylase deficiency 12
                          Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
                          Pyruvate Dehydrogenase E1 Alpha Deficiency 2
                          Pyruvate Dehydrogenase E1-Beta Deficiency 1
                          Pyruvate Dehydrogenase E2 Deficiency 2
                          Pyruvate Dehydrogenase E3-Binding Protein Deficiency 1
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