Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

CRRD ID: 14034383
Species: Sus scrofa
CRRD Object: Gene
Symbol: PDHA1
Name: pyruvate dehydrogenase E1 alpha 1 subunit
Acc ID: DOID:3649
Term: pyruvate decarboxylase deficiency
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.
Definition Source(s): MESH:D015325, http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7365567240710OMIM  
 ISSRGD:126076009068941CTDCTD Direct Evidence: marker/mechanism

PMID:2378353
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency

PMID:21914562
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency

PMID:25741868
 ISSRGD:126076009068941ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency

PMID:23871722, PMID:25741868, PMID:7692352, PMID:8032855, PMID:8598634
 ISSRGD:126076009068941OMIM  
 ISSRGD:126076009068941CRRD PMID:20685142, REF_RGD_ID:13207454
 ISSRGD:126076009068941CRRDDNA:mutations: :multiple

PMID:20002461, REF_RGD_ID:13207453
 ISSRGD:126076009068941CRRDDNA:mutations:multiple (human)

PMID:10679936, REF_RGD_ID:731230
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.