KEGG   DISEASE: Beckwith-Wiedemann syndromeHelp
H00713                      Disease                                

Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in a cluster of imprinted genes found within a genomic region of approximately one megabase on chromosome 11p15. The imprinted region 11p15 is separated into two domains, with each domain regulated by a functionally independent imprinting control regions (ICR). The centromeric ICR2 regulates the expression of CDKN1C, KCNQ1, and further genes. The majority of cases of BWS show hypomethylation in the ICR2 or mutations in the ICR2-regulated CDKN1C gene. In intron 10 of the KCNQ1 locus, the untranslated KCNQ1OT1 RNA is encoded. KCNQ10T1 is expressed by the paternal allele and probably represses realization of the CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00713  Beckwith-Wiedemann syndrome
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00713  Beckwith-Wiedemann syndrome
BRITE hierarchy
hsa04110  Cell cycle
CDKN1C [HSA:1028] [KO:K09993]
KCNQ10T1 [HSA:10984]
H19 [HSA:283120]
IGF2 [HSA:3481] [KO:K13769]
NSD1 [HSA:64324] [KO:K15588]
BWS and the growth retardation disorder Russell-Silver syndrome [DS:H00713] present two genetically and clinically opposite clinical pictures.
Other DBs
ICD-10: Q87.3
MeSH: D001506
OMIM: 130650
Choufani S, Shuman C, Weksberg R
Beckwith-Wiedemann syndrome.
Am J Med Genet C Semin Med Genet 154C:343-54 (2010)
Weksberg R, Smith AC, Squire J, Sadowski P
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
Hum Mol Genet 12 Spec No 1:R61-8 (2003)
Eggermann T
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
Horm Res 71 Suppl 2:30-5 (2009)
Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Hum Mol Genet 20:1363-74 (2011)
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
Am J Hum Genet 74:715-20 (2004)

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