KEGG   DISEASE: Syndromic craniosynostoses
Entry
H00458                      Disease                                
Name
Syndromic craniosynostoses
  Subgroup
Pfeiffer syndrome [DS:H01756]
Apert syndrome [DS:H01755]
Crouzon syndrome [DS:H01754]
Jackson-Weiss syndrome [DS:H01988]
Beare-Stevenson syndrome [DS:H01989]
Muenke syndrome [DS:H01990]
Saethre-Chotzen syndrome [DS:H01991]
Antley-Bixler syndrome [DS:H01753]
Carpenter syndrome [DS:H01888]
Craniofrontonasal syndrome [DS:H01992]
Baller-Gerold syndrome [DS:H01993]
Description
Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. The genes most frequently mutated are FGFRs.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00458  Syndromic craniosynostoses
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H00458  Syndromic craniosynostoses
Pathway
hsa04810  Regulation of actin cytoskeleton
hsa04014  Ras signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04015  Rap1 signaling pathway
Network
nt06541 Cytoskeleton in neurons
Gene
(Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
(Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
(Muenke) FGFR3 [HSA:2261] [KO:K05094]
(Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
(Antley-Bixler) POR [HSA:5447] [KO:K00327]
(Carpenter) RAB23 [HSA:51715] [KO:K06234]
(Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
(Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]
Other DBs
ICD-11: LD24.G
MeSH: D003398
Reference
PMID:21248745
  Authors
Johnson D, Wilkie AO
  Title
Craniosynostosis.
  Journal
Eur J Hum Genet 19:369-76 (2011)
DOI:10.1038/ejhg.2010.235
Reference
PMID:15828709
  Authors
Aleck K
  Title
Craniosynostosis syndromes in the genomic era.
  Journal
Semin Pediatr Neurol 11:256-61 (2004)
DOI:10.1016/j.spen.2004.10.005
Reference
PMID:23438589
  Authors
Fitzpatrick DR
  Title
Filling in the gaps in cranial suture biology.
  Journal
Nat Genet 45:231-2 (2013)
DOI:10.1038/ng.2557
Reference
PMID:26340333
  Authors
Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
  Title
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
  Journal
Am J Hum Genet 97:378-88 (2015)
DOI:10.1016/j.ajhg.2015.07.007

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Gene (16)   
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Literature (4)   
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