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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;   ICD10CM:E74.4;   NCI:C103968;   OMIM:PS312170;   ORDO:79243
For additional species annotation, visit the Alliance of Genome Resources.


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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
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 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

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  disease 12055
    Nutritional and Metabolic Diseases 3341
      disease of metabolism 3341
        mitochondrial metabolism disease 312
          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
Path 2
Term Annotations click to browse term
  disease 12055
    disease of anatomical entity 11715
      nervous system disease 9410
        central nervous system disease 7825
          brain disease 7216
            disease of mental health 5301
              developmental disorder of mental health 2742
                specific developmental disorder 1923
                  intellectual disability 1774
                    syndromic intellectual disability 675
                      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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