KEGG   DISEASE: Asparagine synthetase deficiency
Entry
H01386                      Disease                                
Name
Asparagine synthetase deficiency
Description
Asparagine synthetase deficiency is an autosomal recessive disorder characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive mutations in the ASNS gene, encoding asparagine synthetase which catalyzes the synthesis of asparagine from glutamine and aspartate, are responsible for this syndrome.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01386  Asparagine synthetase deficiency
Pathway
hsa00250  Alanine, aspartate and glutamate metabolism
Gene
ASNS [HSA:440] [KO:K01953]
Other DBs
ICD-11: 5C50.Y
ICD-10: E72.0
MeSH: D000592
OMIM: 615574
Reference
PMID:24139043
  Authors
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Decarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB
  Title
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
  Journal
Neuron 80:429-41 (2013)
DOI:10.1016/j.neuron.2013.08.013

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

Download RDF
DBGET integrated database retrieval system