Details of Disease

General Information of Disease (ID: DISKU3GJ)

• Disease Name: Neu-Laxova syndrome
• Synonyms: Neu Laxova syndrome; NLS; nuclear localization signal
• Definition: Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.
• Disease Hierarchy:
  DISTXWNT: Integumentary system disorder
  DIS6SVEE: Syndromic disease
  DIS9X4I6: Lissencephaly type 3
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISMFQKM: Developmental anomaly of metabolic origin
  DISMQQ0Y: 3-phosphoglycerate dehydrogenase deficiency
  DISKU3GJ: Neu-Laxova syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0000179
  UMLS CUI: C0265218
  MedGen ID: 78537
  Orphanet ID: 2671
  SNOMED CT ID: 77817004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	TT8DRCK	Supportive	Autosomal recessive	[1]
PHGDH	TT8DRCK	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PSAT1	DEBS17P	Supportive	Autosomal recessive	[3]
PSAT1	DEBS17P	moderate	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHGDH	OT1LMRTG	Supportive	Autosomal recessive	[1]
PSAT1	OTVV1YV9	Supportive	Autosomal recessive	[3]
KPNA3	OTLI3TM2	Definitive	Biomarker	[4]

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] Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.Am J Med Genet A. 2019 May;179(5):813-816. doi: 10.1002/ajmg.a.61076. Epub 2019 Mar 5.
• [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.
• [4] Karyopherin -3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3.Proc Natl Acad Sci U S A. 2018 Mar 13;115(11):E2624-E2633. doi: 10.1073/pnas.1716071115. Epub 2018 Feb 23.