KEGG   DISEASE: Rhabdoid predisposition syndromeHelp
Entry
H01134                      Disease                                

Name
Rhabdoid predisposition syndrome
Description
Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally resulting in atypical teratoid rhabdoid tumors (AT/RTs) in the central nervous system and malignant rhabdoid tumors in the kidney or retroperitoneum. The vast majority demonstrate biallelic somatic inactivation of the SMARCB1 tumor suppressor within tumor cells. Mutations in SMRCA4 gene have also been identified.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Other diseases
  Others
   H01134  Rhabdoid predisposition syndrome
BRITE hierarchy
Gene
SMARCB1 [HSA:6598] [KO:K11648]
SMARCA4 [HSA:6597] [KO:K11647]
Other DBs
MeSH: C563738 C567643
OMIM: 609322 613325
Reference
PMID:21436099 (description, gene, marker)
  Authors
Harris TJ, Donahue JE, Shur N, Tung GA
  Title
Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children.
  Journal
Radiology 259:298-302 (2011)
DOI:10.1148/radiol.10092219
Reference
  Authors
Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R
  Title
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
  Journal
Am J Hum Genet 86:279-84 (2010)
DOI:10.1016/j.ajhg.2010.01.013
Reference
  Authors
Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, Andre N, Stephan JL, Perel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Freneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O
  Title
Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.
  Journal
Clin Cancer Res 17:31-8 (2011)
DOI:10.1158/1078-0432.CCR-10-1795

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