Details of Disease | DrugMAP

General Information of Disease (ID: DIS958K3)

Disease Name	PHGDH deficiency
Synonyms	PHGDHD; 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form; PHOSPHOGLYCERATE dehydrogenase deficiency; PHGDH deficiency
Definition	3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
Disease Hierarchy	DISMQQ0Y: 3-phosphoglycerate dehydrogenase deficiency DIS958K3: PHGDH deficiency
Disease Identifiers	MONDO ID MONDO_0011152 MESH ID C566618 UMLS CUI C1866174 OMIM ID 601815 MedGen ID 400935 Orphanet ID 79351

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	TT8DRCK	Limited	Biomarker	[1]
PHGDH	TT8DRCK	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	OT1LMRTG	Definitive	Autosomal recessive	[2]
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References

1	Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.
2	Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014 Jun 5;94(6):898-904. doi: 10.1016/j.ajhg.2014.04.015. Epub 2014 May 15.