KEGG   DISEASE: Russell-Silver syndrome
Entry
H00711                      Disease                                

Name
Russell-Silver syndrome;
Silver-Russell syndrome
Description
Russell-Silver syndrome (RSS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. SRS is associated with genetic or epigenetic mutations that affect two different chromosomes. In addition to maternal uniparental disomy of chromosome 7, hypomethylation of the imprinting control region 1 (ICR1) in 11p15 and maternal duplication of 11p15 have recently been described as major epigenetic disturbances in SRS. The ICR1 regulates expression of the paternally expressed IGF2 and the maternally expressed H19. The H19 gene encodes a 2.3-kb non-coding mRNA, which is strongly expressed during embryogenesis and possibly functions as a microRNA. It has been proposed that H19 hypomethylation leads to biallelic expression of this gene and downregulation of IGF2 expression resulting in growth retardation.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00711  Russell-Silver syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00711  Russell-Silver syndrome
Gene
H19 [HSA:283120]
IGF2 [HSA:3481] [KO:K13769]
Comment
RSS and the overgrowth disease Beckwith-Wiedemann syndrome [DS:H00713] present two genetically and clinically opposite clinical pictures.
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
MeSH: D056730
OMIM: 180860
Reference
  Authors
Eggermann T
  Title
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
  Journal
Horm Res 71 Suppl 2:30-5 (2009)
DOI:10.1159/000192433
Reference
  Authors
Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A
  Title
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
  Journal
Hum Mol Genet 20:1363-74 (2011)
DOI:10.1093/hmg/ddr018
Reference
  Authors
Eggermann T, Begemann M, Binder G, Spengler S
  Title
Silver-Russell syndrome: genetic basis and molecular genetic testing.
  Journal
Orphanet J Rare Dis 5:19 (2010)
DOI:10.1186/1750-1172-5-19
Reference
  Authors
Eggermann T
  Title
Russell-Silver syndrome.
  Journal
Am J Med Genet C Semin Med Genet 154C:355-64 (2010)
DOI:10.1002/ajmg.c.30274
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