Details of Disease | DrugMAP

General Information of Disease (ID: DIS39ZDS)

Disease Name	Obsolete isolated brachycephaly
Synonyms	non-syndromic bicoronal synostosis
Definition	OBSOLETE. Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS39ZDS: Obsolete isolated brachycephaly

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWIST1	OTB3H60O	Supportive	Autosomal dominant	[1]
ZIC1	OTP5E23B	Supportive	Autosomal dominant	[2]
FGFR3	OTSAXDIL	Supportive	Autosomal dominant	[3]
TCF12	OTZVONNU	Supportive	Autosomal dominant	[4]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	TTST7KB	Supportive	Autosomal dominant	[3]
TWIST1	TTX1MY7	Supportive	Autosomal dominant	[1]
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References

1	Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A. 2007 Apr 1;143A(7):678-86. doi: 10.1002/ajmg.a.31630.
2	Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.
3	A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. Acta Paediatr. 2000 Jun;89(6):672-4. doi: 10.1080/080352500750043972.
4	Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27.