Details of Disease

General Information of Disease (ID: DISF8VD1)

Disease Name Pyruvate dehydrogenase E1-beta deficiency
Synonyms pyruvate dehydrogenase E1-BETA deficiency; pyruvate dehydrogenase E1-beta deficiency; pyruvate dehydrogenase complex E1 component subunit beta deficiency; PDHBD
Definition Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
Disease Hierarchy
DIS8RZP9: Pyruvate dehydrogenase complex deficiency
DISF8VD1: Pyruvate dehydrogenase E1-beta deficiency
Disease Identifiers
MONDO ID
MONDO_0013580
MESH ID
C566729
UMLS CUI
C3279841
OMIM ID
614111
MedGen ID
481471
Orphanet ID
255138

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDHB OT2NHE5E Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.