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Ontology Browser

Term:
Pyruvate Dehydrogenase E2 Deficiency (DOID:9008243)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 3  
Congenital Infantile Lactic Acidosis +   
GRACILE syndrome  
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Lactic Acidosis, Chronic Adult Form 
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
mitochondrial DNA depletion syndrome 9  
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
Myopathy with Lactic Acidosis, Hereditary  
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E1-Beta Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate dehydrogenase E2 deficiency is caused by homozygous mutation in the DLAT gene on chromosome 11q23. (OMIM)
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  
Tricarboxylic Acid Cycle, Defect of 

Synonyms
Exact Synonyms: Dihydrolipoyl transacetylase ;   Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex ;   PDHDD
Primary IDs: MESH:C565448 ;   RDO:0014081
Alternate IDs: OMIM:245348

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