Details of Disease | DrugMAP

General Information of Disease (ID: DISIEY3W)

Disease Name	Isolated trigonocephaly
Synonyms	non-syndromic metopic craniosynostosis; nonsyndromic trigonocephaly
Definition	Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.
Disease Hierarchy	DISPEJRZ: Isolated craniosynostosis DISHV6BA: Trigonocephaly DISIEY3W: Isolated trigonocephaly

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR1	TTRLW2X	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR1	OT4GLCXW	Supportive	Autosomal dominant	[1]
FREM1	OTMHRV87	Supportive	Autosomal dominant	[2]
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References

1	An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet. 2000;91(1-4):138-40. doi: 10.1159/000056834.
2	Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.