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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:A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)
Synonyms:exact_synonym: 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;   ataxia with lactic acidosis;   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;   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 PMID:28492532 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: Pyruvate dehydrogenase complex deficiency
ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, 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:20002461 PMID:20691944 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:28492532, 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 dehydrogenase 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:9618178 PMID:17172462 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:9618178 PMID:17172462 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:7887409 PMID:7981697 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8962591 PMID:9266390 PMID:9618178 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10775534 PMID:11102541 PMID:11241048 PMID:12379317 PMID:12551913 PMID:17043409 PMID:17172462 PMID:18023225 PMID:18197404 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:21846590 PMID:21914562 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26633542 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:31673819 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:9618178 PMID:17172462 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:9618178 PMID:17172462 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:9618178 PMID:17172462 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:16049940 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 17147
    Nutritional and Metabolic Diseases 5523
      disease of metabolism 5523
        mitochondrial metabolism disease 391
          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 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        central nervous system disease 10373
          brain disease 9729
            disease of mental health 7037
              developmental disorder of mental health 4372
                specific developmental disorder 3630
                  intellectual disability 3442
                    syndromic intellectual disability 760
                      Mental Retardation, X-Linked 718
                        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