Details of Disease | DrugMAP

General Information of Disease (ID: DISZX1GK)

Disease Name	Craniosynostosis 4
Synonyms	CRS4; craniosynostosis caused by mutation in ERF; ERF craniosynostosis; craniosynostosis 4; craniosynostosis type 4; ERF-related craniosynostosis
Definition	Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.
Disease Hierarchy	DISEUVBK: Syndromic craniosynostosis DIS6J405: Craniosynostosis DISZX1GK: Craniosynostosis 4
Disease Identifiers	MONDO ID MONDO_0010929 MESH ID D003398 UMLS CUI C1833340 OMIM ID 600775 MedGen ID 322167 HPO ID HP:0004443 SNOMED CT ID 109417006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

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

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFNB1	OT7JJW8P	Strong	Biomarker	[8]
IFT122	OTSK3OAD	Strong	Biomarker	[9]
BBS9	OT23V9YF	Definitive	Biomarker	[4]
ERF	OTGTA85X	Definitive	Autosomal dominant	[5]
TCF12	OTZVONNU	Definitive	Biomarker	[10]
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References

1	Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.
2	Syndromic craniosynostosis with elbow joint contracture.Pediatr Neurosurg. 2006;42(2):108-12. doi: 10.1159/000090465.
3	Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation.Hum Mol Genet. 2010 Sep 1;19(17):3457-67. doi: 10.1093/hmg/ddq258. Epub 2010 Jun 22.
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	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
6	Epigenetic control of skeletal development by the histone methyltransferase Ezh2. J Biol Chem. 2015 Nov 13;290(46):27604-17.
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.