Details of Disease

General Information of Disease (ID: DISSZTKC)

Disease Name Obsolete isolated plagiocephaly
Synonyms synostotic plagiocephaly; non-syndromic unicoronal synostosis
Definition OBSOLETE. Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISSZTKC: Obsolete isolated plagiocephaly

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.