Details of Disease

General Information of Disease (ID: DISMDB0M)

Disease Name Craniosynostosis 6
Synonyms CRS6; craniosynostosis type 6; ZIC1 craniosynostosis; craniosynostosis 6; craniosynostosis caused by mutation in ZIC1
Definition Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.
Disease Hierarchy
DIS6J405: Craniosynostosis
DISFXRXN: Isolated oxycephaly
DISMDB0M: Craniosynostosis 6
Disease Identifiers
MONDO ID
MONDO_0014705
UMLS CUI
C4225269
OMIM ID
616602
MedGen ID
904675

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 Definitive Autosomal dominant [1]
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References

1 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.