Details of Disease | DrugMAP

General Information of Disease (ID: DIS3AZPM)

Disease Name	Craniosynostosis 7
Synonyms	Crs7, digenic; CRS7; craniosynostosis 7, digenic; craniosynostosis 7, susceptibility to; craniosynostosis 7
Definition	Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DIS3AZPM: Craniosynostosis 7
Disease Identifiers	MONDO ID MONDO_0044315 UMLS CUI C4479496 OMIM ID 617439 MedGen ID 1392447

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMAD6	TTON5JB	Strong	Autosomal dominant	[1]
SMAD6	TTON5JB	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMAD6	OTUZZWUD	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5.
2	Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.Front Physiol. 2017 Jun 13;8:400. doi: 10.3389/fphys.2017.00400. eCollection 2017.