KEGG   DISEASE: Williams-Beuren syndromeHelp
Entry
H01439                      Disease                                

Name
Williams-Beuren syndrome
Description
Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include congenital vascular and heart disease, characteristic facial features, premature aging, generally mild mental retardation, short stature, myopathy, hypercalcemia, and a unique cognitive profile. To date at least 28 genes have been identified within the deleted region.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01439  Williams-Beuren syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H01439  Williams-Beuren syndrome
BRITE hierarchy
Gene
ELN [HSA:2006] [KO:K14211]
LIMK1 [HSA:3984] [KO:K05743]
CLIP2 [HSA:7461] [KO:K10422]
RFC2 [HSA:5982] [KO:K10755]
BCL7B [HSA:9275]
GTF2I [HSA:2969] [KO:K03121]
GTF2IRD [HSA:9569] [KO:K03121]
EIF4H [HSA:7458]
TBL2 [HSA:26608]
MLXIPL [HSA:51085] [KO:K09113]
FKBP6 [HSA:8468] [KO:K09572]
BAZ1B [HSA:9031] [KO:K11658]
CLDN3 [HSA:1365] [KO:K06087]
CLDN4 [HSA:1364] [KO:K06087]
DNAJC30 [HSA:84277] [KO:K19374]
LAT2 [HSA:7462]
FZD9 [HSA:8326] [KO:K02842]
STX1A [HSA:6804] [KO:K04560]
SPDYE1 [HSA:285955] [KO:K08694]
NSUN5 [HSA:55695] [KO:K15264]
ABHD11 [HSA:83451] [KO:K13703]
TRIM50 [HSA:135892] [KO:K12024]
VPS37D [HSA:155382] [KO:K12185]
WBSCR22 [HSA:114049] [KO:K19306]
WBSCR16 [HSA:64409] [KO:K00710]
WBSCR17 [HSA:81554]
WBSCR27 [HSA:155368]
WBSCR28 [HSA:135886]
Other DBs
ICD-11: LD44.70
ICD-10: Q93.8
MeSH: D018980
OMIM: 194050
Reference
  Authors
Pober BR
  Title
Williams-Beuren syndrome.
  Journal
N Engl J Med 362:239-52 (2010)
DOI:10.1056/NEJMra0903074
Reference
  Authors
Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M
  Title
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
  Journal
Am J Med Genet A 161A:527-33 (2013)
DOI:10.1002/ajmg.a.35784
Reference
  Authors
Matsumoto N, Kitani R, Kalinec F
  Title
Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome.
  Journal
Commun Integr Biol 4:208-10 (2011)
DOI:10.4161/cib.4.2.14491
Reference
  Authors
Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF
  Title
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
  Journal
Am J Hum Genet 90:1071-8 (2012)
DOI:10.1016/j.ajhg.2012.04.020
Reference
  Authors
Zhukova N, Naqvi A
  Title
Williams-Beuren Syndrome and Burkitt Leukemia.
  Journal
J Pediatr Hematol Oncol 35:e30-2 (2013)
DOI:10.1097/MPH.0b013e318270672f
Reference
  Authors
Merla G, Ucla C, Guipponi M, Reymond A
  Title
Identification of additional transcripts in the Williams-Beuren syndrome critical region.
  Journal
Hum Genet 110:429-38 (2002)
DOI:10.1007/s00439-002-0710-x
Reference
  Authors
Doyle JL, DeSilva U, Miller W, Green ED
  Title
Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome.
  Journal
Cytogenet Cell Genet 90:285-90 (2000)
DOI:10.1159/000056790
Reference
  Authors
Doll A, Grzeschik KH
  Title
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
  Journal
Cytogenet Cell Genet 95:20-7 (2001)
DOI:10.1159/000057012
Reference
  Authors
Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A
  Title
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
  Journal
Eur J Hum Genet 16:1038-49 (2008)
DOI:10.1038/ejhg.2008.68

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