Details of Disease | DrugMAP

General Information of Disease (ID: DISMQQ0Y)

Disease Name	3-phosphoglycerate dehydrogenase deficiency
Disease Hierarchy	DISCF5UM: Neurometabolic disorder due to serine deficiency DISMQQ0Y: 3-phosphoglycerate dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0018491 UMLS CUI C0580190 MedGen ID 663158 SNOMED CT ID 303098002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	TT8DRCK	Definitive	GermlineCausalMutation	[1]
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References

1	Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27.