KEGG   DISEASE: Snijders Blok-Campeau syndrome
Entry
H02614                      Disease                                
Name
Snijders Blok-Campeau syndrome
  Supergrp
Neurodevelopmental disorder with macrocephaly [DS:H02616]
Description
Snijders Blok-Campeau syndrome (SNIBCPS) is a neurodevelopmental syndrome characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease. CHD3 is a core component of the NuRD complex, which possesses both chromatin remodeling and histone deacetylation activities.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02614  Snijders Blok-Campeau syndrome
Gene
CHD3 [HSA:1107] [KO:K11642]
Other DBs
ICD-11: LD90.Y
MeSH: C000729467
OMIM: 618205
Reference
  Authors
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM
  Title
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Journal
Nat Commun 9:4619 (2018)
DOI:10.1038/s41467-018-06014-6
Reference
  Authors
Pierson TM, Otero MG, Grand K, Choi A, Graham JM Jr, Young JI, Mackay JP
  Title
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
  Journal
Am J Med Genet C Semin Med Genet 181:548-556 (2019)
DOI:10.1002/ajmg.c.31752
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