Details of Disease

Disease Name

Synostosis

Definition

A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.

Disease Hierarchy

DISHPNVX: Dysplasia

DISXGMZW: Synostosis

Disease Identifiers

MONDO ID

MONDO_0001411

MESH ID

D013580

UMLS CUI

C0039093

MedGen ID

11689

General Information of Disease (ID: DISXGMZW)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	TTST7KB	Strong	Genetic Variation	[1]
HOXA11	TTEX4ZA	Strong	Genetic Variation	[2]
SMAD6	TTON5JB	Strong	Biomarker	[3]
TWIST1	TTX1MY7	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP26B1	DEZT8FM	Strong	Genetic Variation	[5]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EFNA4	OTITKZQH	Strong	Biomarker	[6]
EFNB1	OT7JJW8P	Strong	Genetic Variation	[7]
GDF6	OTERXWJU	Strong	Genetic Variation	[8]
MSX2	OT1WDKE1	Strong	Biomarker	[9]
NOG	OTGRHHPG	Strong	Biomarker	[10]
TCF12	OTZVONNU	Strong	Genetic Variation	[11]
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⏷ Show the Full List of 6 DOT(s)

References

1	Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.Plast Reconstr Surg. 2012 May;129(5):814e-821e. doi: 10.1097/PRS.0b013e31824a2dda.
2	Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.J Pediatr Hematol Oncol. 2010 Aug;32(6):479-85. doi: 10.1097/MPH.0b013e3181e5129d.
3	Clinical genetics of craniosynostosis.Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542.
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.
5	Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. Am J Med Genet A. 2016 Oct;170(10):2706-10. doi: 10.1002/ajmg.a.37804. Epub 2016 Jul 13.
6	Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.Hum Mol Genet. 2006 Apr 15;15(8):1319-28. doi: 10.1093/hmg/ddl052. Epub 2006 Mar 15.
7	Syndromic craniosynostosis: from history to hydrogen bonds.Orthod Craniofac Res. 2007 May;10(2):67-81. doi: 10.1111/j.1601-6343.2007.00389.x.
8	Further delineation of the GDF6 related multiple synostoses syndrome.Am J Med Genet A. 2018 Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12.
9	Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.Am J Med Genet A. 2009 Jul;149A(7):1544-9. doi: 10.1002/ajmg.a.32949.
10	P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.Eur J Med Genet. 2008 Jul-Aug;51(4):351-7. doi: 10.1016/j.ejmg.2008.02.008. Epub 2008 Mar 20.
11	Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2.