Details of Disease

General Information of Disease (ID: DISM00VW)

• Disease Name: Neu-Laxova syndrome 1
• Synonyms: Neu-Laxova syndrome; NLS1; Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency; Neu-Laxova syndrome caused by mutation in PHGDH; PHGDH Neu-Laxova syndrome; Neu-Laxova syndrome 1; 3-phosphoglycerate dehydrogenase deficiency, prenatal form; Neu-Laxova syndrome type 1; 3-Phosphoglycerate dehydrogenase deficiency, neonatal form
• Definition: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
• Disease Hierarchy:
  DISKU3GJ: Neu-Laxova syndrome
  DISM00VW: Neu-Laxova syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0009736
  UMLS CUI: C4551478
  OMIM ID: 256520
  MedGen ID: 1633287
  Orphanet ID: 583607

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	TT8DRCK	Strong	Genetic Variation	[1]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	moderate	Biomarker	[2]
PSAT1	DEBS17P	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSAT1	OTVV1YV9	Strong	Autosomal recessive	[2]
PSPH	OTV1PVAX	Definitive	Autosomal recessive	[3]

References

• [1] 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.
• [2] Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007 May;80(5):931-7. doi: 10.1086/517888. Epub 2007 Mar 30.
• [3] 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.