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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease;   Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease;   PDH Deficiency;   PDHAD;   PDHC Deficiency;   PDHC Deficiency Disease;   Pyruvate Dehydrogenase Complex Deficiency;   deficiency of pyruvic dehydrogenase;   intermittent ataxia with abnormal pyruvate metabolism;   intermittent ataxia with pyruvate dehydrogenase deficiency;   intermittent ataxia with pyruvate dehydrogenase, or decarboxylase deficiency;   pyruvate dehydrogenase complex deficiency disease;   pyruvate dehydrogenase deficiency;   type I ataxia with lactic acidosis
 narrow_synonym: LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
 primary_id: MESH:D015325
 alt_id: OMIA:001406;   OMIM:312170
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISS OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 MouseDO NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency
DNA:mutations: :multiple
ClinVar Annotator: match by OMIM:312170
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2378353, PMID:7692352, PMID:8032855, PMID:8598634, PMID:21914562, PMID:23871722, PMID:25741868, PMID:28492532, PMID:10679936, PMID:20685142, PMID:20002461 RGD:731230, RGD:13207454, RGD:13207453 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15138885, PMID:15138885 RGD:1599115 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO
ISS
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111
ClinVar
MouseDO
NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 ISS OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 MouseDO NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288
JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266, PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar
OMIM
PMID:24033266, PMID:25741868 NCBI chr15:34,216,735...34,224,357
Ensembl chr15:34,216,833...34,224,193
JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:36,930,186...37,054,968
Ensembl chr  X:36,930,186...37,003,642
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 NCBI chr  X:37,342,251...37,755,373 JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar PMID:1293379, PMID:1301207, PMID:1338114, PMID:1508605, PMID:1770778, PMID:1779625, PMID:1907799, PMID:1909401, PMID:1909778, PMID:2828359, PMID:3034892, PMID:3137520, PMID:7573035, PMID:7692352, PMID:7887408, PMID:7887409, PMID:8032855, PMID:8199595, PMID:8504306, PMID:8504309, PMID:8598634, PMID:8771169, PMID:8962591, PMID:9266390, PMID:9671272, PMID:9686362, PMID:10486093, PMID:10679936, PMID:10775534, PMID:11102541, PMID:11241048, PMID:11727201, PMID:12379317, PMID:12551913, PMID:12673792, PMID:15384102, PMID:17043409, PMID:18023225, PMID:18197404, PMID:20002125, PMID:20002461, PMID:20301601, PMID:20591708, PMID:20691944, PMID:21846590, PMID:21914562, PMID:22473288, PMID:23021068, PMID:23871722, PMID:24718837, PMID:25326635, PMID:25526709, PMID:25590979, PMID:25741868, PMID:26008863, PMID:26633542, PMID:26865159, PMID:26944031, PMID:27144126, PMID:27896109, PMID:28492532, PMID:28639102, PMID:28918066, PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,822,687...35,947,690
Ensembl chr  X:35,869,538...35,947,282
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:20591708, PMID:21914562, PMID:22473288, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency
ClinVar Annotator: match by OMIM:614111
OMIM
ClinVar
PMID:15138885, PMID:18164639, PMID:19924563, PMID:21914562, PMID:25356417, PMID:25741868, PMID:26014431, PMID:26865159, PMID:28492532 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
ClinVar Annotator: match by OMIM:245348
OMIM
ClinVar
PMID:1293379, PMID:16049940, PMID:20022530, PMID:22079328, PMID:25741868, PMID:28492532, PMID:29093066 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:16049940, PMID:28492532 NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by OMIM:245349
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8229524, PMID:8584393, PMID:9399911, PMID:9467010, PMID:11935326, PMID:12557299, PMID:16566017, PMID:17152059, PMID:21937992, PMID:25087164, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          pyruvate decarboxylase deficiency 17
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
            Pyruvate Dehydrogenase E1 Alpha Deficiency 8
            Pyruvate Dehydrogenase E1-Beta Deficiency 1
            Pyruvate Dehydrogenase E2 Deficiency 2
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        pyruvate decarboxylase deficiency 17
                          Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
                          Pyruvate Dehydrogenase E1 Alpha Deficiency 8
                          Pyruvate Dehydrogenase E1-Beta Deficiency 1
                          Pyruvate Dehydrogenase E2 Deficiency 2
                          Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
paths to the root

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