KEGG   DISEASE: Weaver syndrome
Entry
H01751                      Disease                                

Name
Weaver syndrome
Description
Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2, were shown to cause WS.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01751  Weaver syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H01751  Weaver syndrome
Pathway
hsa00310  Lysine degradation
Gene
EZH2 [HSA:2146] [KO:K11430]
Comment
See also H00718 Sotos syndrome.
Other DBs
ICD-11: LD2C
ICD-10: Q87.3
MeSH: C536687
OMIM: 277590
Reference
  Authors
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S, Rahman N
  Title
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
  Journal
Am J Med Genet A 161A:2972-80 (2013)
DOI:10.1002/ajmg.a.36229
Reference
  Authors
Tatton-Brown K, Rahman N
  Title
EZH2-Related Overgrowth
  Journal
GeneReviews (1993)
LinkDB

» Japanese version

DBGET integrated database retrieval system