KEGG DISEASE: Trigonocephaly

DISEASE: Trigonocephaly

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 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

Pathway

hsa04512

ECM-receptor interaction

hsa04810

Regulation of actin cytoskeleton

hsa04520

Adherens junction

hsa04010

MAPK signaling pathway

Gene

(TRIGNO1) FGFR1 [HSA:2260] [KO:K04362]
(TRIGNO2) FREM1 [HSA:158326] [KO:K23380]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:15185114

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

Reference

PMID:11173846 (FGFR1)

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

PMID:21931569 (FREM1)

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

LinkDB

» Japanese version

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