KEGG   DISEASE: Coffin-Siris syndromeHelp
Entry
H01403                      Disease                                

Name
Coffin-Siris syndrome
Description
Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger and/or toe. Recently, it has been reported that mutations in genes encoding subunits of the SWI/SNF complex cause this disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01403  Coffin-Siris syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01403  Coffin-Siris syndrome
BRITE hierarchy
Pathway
hsa04714  Thermogenesis
Gene
(CSS1) ARID1B [HSA:57492] [KO:K11653]
(CSS2) ARID1A [HSA:8289] [KO:K11653]
(CSS3) SMARCB1 [HSA:6598] [KO:K11648]
(CSS4) SMARCA4 [HSA:6597] [KO:K11647]
(CSS5) SMARCE1 [HSA:6605] [KO:K11651]
(CSS6) ARID2 [HSA:196528] [KO:K11765]
(CSS7) DPF2 [HSA:5977] [KO:K13196]
(CSS8) SMARCC2 [HSA:6601] [KO:K11649]
(CSS9) SOX11 [HSA:6664] [KO:K09268]
(CSS10) SOX4 [HSA:6659] [KO:K23581]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.1
MeSH: C536436
OMIM: 135900 614607 614608 614609 616938 617808 618027 618362 615866 618506
Reference
  Authors
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
  Title
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
  Journal
Nat Genet 44:376-8 (2012)
DOI:10.1038/ng.2219
Reference
  Authors
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M
  Title
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
  Journal
Nat Genet 44:379-80 (2012)
DOI:10.1038/ng.2217
Reference
  Authors
Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N
  Title
Coffin-Siris syndrome is a SWI/SNF complex disorder.
  Journal
Clin Genet 85:548-54 (2014)
DOI:10.1111/cge.12225
Reference
  Authors
Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kuhl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V
  Title
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
  Journal
Am J Hum Genet 104:246-259 (2019)
DOI:10.1016/j.ajhg.2018.12.014

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