KEGG   DISEASE: TrigonocephalyHelp
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01207  Trigonocephaly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skeleton
    LB70  Structural developmental anomalies of cranium
     H01207  Trigonocephaly
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04520  Adherens junction
hsa04810  Regulation of actin cytoskeleton
Gene
FGFR1 [HSA:2260] [KO:K04362]
FREM1 [HSA:158326] [KO:K23380]
Other DBs
ICD-11: LB70.0Y
ICD-10: Q75.0
MeSH: D003398
OMIM: 190440 614485
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)
DOI:10.1159/000056834
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)
DOI:10.1371/journal.pgen.1002278
Reference
  Authors
Shimoji T, Tomiyama N
  Title
Mild trigonocephaly and intracranial pressure: report of 56 patients.
  Journal
Childs Nerv Syst 20:749-56 (2004)
DOI:10.1007/s00381-004-0970-y

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