Details of Disease | DrugMAP

General Information of Disease (ID: DISGMW2D)

Disease Name	Pyruvate dehydrogenase phosphatase deficiency
Synonyms	lactic acidemia with pyruvate dehydrogenase phosphatase deficiency; PDHPD; PDH phosphatase deficiency; pyruvate dehydrogenase phosphatase deficiency
Definition	Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
Disease Hierarchy	DIS8RZP9: Pyruvate dehydrogenase complex deficiency DISGMW2D: Pyruvate dehydrogenase phosphatase deficiency
Disease Identifiers	MONDO ID MONDO_0012120 MESH ID C536258 UMLS CUI C1837429 OMIM ID 608782 MedGen ID 332448 Orphanet ID 79246 SNOMED CT ID 1003847003

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
PDP1	OT82RTMT	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.