Details of Disease | DrugMAP

General Information of Disease (ID: DISKLE9L)

Disease Name	Familial scaphocephaly syndrome, McGillivray type
Synonyms	scaphocephaly, maxillary retrusion, and mental retardation; scaphocephaly, maxillary retrusion, and intellectual disability; scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
Definition	Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
Disease Hierarchy	DIS6VOYR: Familial scaphocephaly syndrome DISKLE9L: Familial scaphocephaly syndrome, McGillivray type
Disease Identifiers	MONDO ID MONDO_0012307 MESH ID C566511 UMLS CUI C1865070 OMIM ID 609579 MedGen ID 355365 Orphanet ID 168624

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
FGFR2	TTGJVQM	Strong	Autosomal dominant	[1]
FGFR2	TTGJVQM	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	OTLOPACK	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.