KEGG   DISEASE: Snyder-Robinson syndrome
Entry
H00597                      Disease                                

Name
Snyder-Robinson syndrome
Description
Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder. This syndrome is caused by missense mutations in the spermine synthase gene.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00597  Snyder-Robinson syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H00597  Snyder-Robinson syndrome
Related
pathway
hsa00330  Arginine and proline metabolism
hsa00480  Glutathione metabolism
hsa00270  Cysteine and methionine metabolism
Gene
SMS [HSA:6611] [KO:K00802]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
MeSH: C536678
OMIM: 309583
Reference
  Authors
Becerra-Solano LE, Butler J, Castaneda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE
  Title
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
  Journal
Am J Med Genet A 149A:328-35 (2009)
DOI:10.1002/ajmg.a.32641
Reference
  Authors
Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E
  Title
Computational analysis of missense mutations causing Snyder-Robinson syndrome.
  Journal
Hum Mutat 31:1043-9 (2010)
DOI:10.1002/humu.21310
Reference
  Authors
Pegg AE, Michael AJ
  Title
Spermine synthase.
  Journal
Cell Mol Life Sci 67:113-21 (2010)
DOI:10.1007/s00018-009-0165-5
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501
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