KEGG   DISEASE: Neu-Laxova syndromeHelp
Entry
H02117                      Disease                                

Name
Neu-Laxova syndrome
Description
Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features. NLS is genetically heterogeneous and can be caused by mutations in the genes encoding enzymes of the L-serine biosynthesis pathway.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H02117  Neu-Laxova syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02117  Neu-Laxova syndrome
BRITE hierarchy
Pathway
hsa00260 Glycine, serine and threonine metabolism   
hsa00750 Vitamin B6 metabolism   
Gene
PHGDH [HSA:26227] [KO:K00058]
PSAT1 [HSA:29968] [KO:K00831]
Comment
See also H01079, H01082, and H02116.
Other DBs
ICD-11: LD20.1
ICD-10: E72.8
MeSH: C536405
OMIM: 256520 616038
Reference
PMID:5547878
  Authors
Neu RL, Kajii T, Gardner LI, Nagyfy SF
  Title
A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.
  Journal
Pediatrics 47:610-2 (1971)
Reference
  Authors
Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE
  Title
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
  Journal
Am J Med Genet A 125A:240-9 (2004)
DOI:10.1002/ajmg.a.20467
Reference
  Authors
Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS
  Title
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
  Journal
Am J Hum Genet 94:898-904 (2014)
DOI:10.1016/j.ajhg.2014.04.015
Reference
  Authors
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjold M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M
  Title
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
  Journal
Am J Hum Genet 95:285-93 (2014)
DOI:10.1016/j.ajhg.2014.07.012

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