Details of Disease | DrugMAP

General Information of Disease (ID: DISFXRXN)

Disease Name	Isolated oxycephaly
Synonyms	turricephaly; acrocephaly; hypsocephaly; pyrgocephaly; hypsicephaly
Definition	Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.
Disease Hierarchy	DISPEJRZ: Isolated craniosynostosis DISFXRXN: Isolated oxycephaly
Disease Identifiers	MONDO ID MONDO_0018971 UMLS CUI C5399823 MedGen ID 1726910 HPO ID HP:0000262

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZIC1	OTP5E23B	Supportive	Autosomal dominant	[1]
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References

1	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.