pyruvate dehydrogenase e2 deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. (Orphanet Rare Disease Ontology, Orphanet_79244)
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1 genes associated with the pyruvate dehydrogenase e2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
DLAT dihydrolipoamide S-acetyltransferase