Details of Disease | DrugMAP

General Information of Disease (ID: DISGRP2G)

Disease Name	TWIST1-related craniosynostosis
Synonyms	CRS1; CRS; craniostenosis; TWIST1-related craniosynostosis; Primary Craniosynostosis; craniosynostosis type 1; craniosynostosis 1
Definition	Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.
Disease Hierarchy	DISFXRXN: Isolated oxycephaly DISGRP2G: TWIST1-related craniosynostosis
Disease Identifiers	MONDO ID MONDO_0007399 MESH ID D003398 UMLS CUI C4551902 OMIM ID 123100 MedGen ID 1646646

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWIST1	OTB3H60O	Definitive	Autosomal dominant	[1]
EFNB1	OT7JJW8P	Strong	Biomarker	[8]
IFT122	OTSK3OAD	Strong	Biomarker	[9]
BBS9	OT23V9YF	Definitive	Biomarker	[4]
TCF12	OTZVONNU	Definitive	Biomarker	[10]
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This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ERF	TTGXULC	Limited	Genetic Variation	[2]
TWIST1	TTX1MY7	Strong	Genetic Variation	[3]
BMP2	TTP3IGX	Definitive	Biomarker	[4]
EZH2	TT9MZCQ	Definitive	Biomarker	[5]
FGFR2	TTGJVQM	Definitive	Biomarker	[6]
NELL1	TT7H4BF	Definitive	Biomarker	[7]
TWIST1	TTX1MY7	Definitive	Autosomal dominant	[1]
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⏷ Show the Full List of 7 DTT(s)

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	De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.Proc Natl Acad Sci U S A. 2017 Aug 29;114(35):E7341-E7347. doi: 10.1073/pnas.1709255114. Epub 2017 Aug 14.
3	Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. Epub 2014 Oct 1.
4	A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.
5	Epigenetic control of skeletal development by the histone methyltransferase Ezh2. J Biol Chem. 2015 Nov 13;290(46):27604-17.
6	Syndromic craniosynostosis with elbow joint contracture.Pediatr Neurosurg. 2006;42(2):108-12. doi: 10.1159/000090465.
7	Overexpression of Nell-1, a craniosynostosis-associated gene, induces apoptosis in osteoblasts during craniofacial development.J Bone Miner Res. 2003 Dec;18(12):2126-34. doi: 10.1359/jbmr.2003.18.12.2126.
8	Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. doi: 10.1073/pnas.0402819101. Epub 2004 May 27.
9	Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.
10	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.