KEGG   DISEASE: H01207Help
Entry
H01207                      Disease                                

Name
Trigonocephaly
Description
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.
Category
Developmental disorder
BRITE hierarchy
Pathway
MAPK signaling pathway
Adherens junction
Regulation of actin cytoskeleton
Gene
FGFR1 [HSA:2260] [KO:K04362]
FREM1 [HSA:158326]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Kress W, Petersen B, Collmann H, Grimm T
  Title
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.
  Journal
Cytogenet Cell Genet 91:138-40 (2000)
Reference
  Authors
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
  Title
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
  Journal
PLoS Genet 7:e1002278 (2011)
Reference
  Authors
Shimoji T, Tomiyama N
  Title
Mild trigonocephaly and intracranial pressure: report of 56 patients.
  Journal
Childs Nerv Syst 20:749-56 (2004)

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