H00597 | |
H number | H00597 |
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 |
Network | nt06033(H00597) Glycine, serine and arginine metabolism |
Gene | SMS [HSA:6611] [KO:K00802] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: C536678 OMIM: 309583 |
Reference | PMID:19206178 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 PMID:20556796 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 PMID:19859664 AUTHORS Pegg AE, Michael AJ TITLE Spermine synthase. JOURNAL Cell Mol Life Sci 67:113-21 (2010) DOI:10.1007/s00018-009-0165-5 PMID:15630421 AUTHORS Ropers HH, Hamel BC TITLE X-linked mental retardation. JOURNAL Nat Rev Genet 6:46-57 (2005) DOI:10.1038/nrg1501 |