Details of Disease | DrugMAP

General Information of Disease (ID: DISBOYFO)

Disease Name	Obsolete leukoencephalopathy with vanishing white matter
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISBOYFO: Obsolete leukoencephalopathy with vanishing white matter

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF2B1	OT4NCVY1	Strong	Autosomal recessive	[1]
EIF2B3	OTG6HE7D	Strong	Autosomal recessive	[1]
EIF2B4	OTTM5SX1	Strong	Autosomal recessive	[1]
EIF2B2	OTQQMHM1	Definitive	Autosomal recessive	[2]
EIF2B5	OTV3R4RB	Definitive	Autosomal recessive	[3]
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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	Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet. 2001 Dec;29(4):383-8. doi: 10.1038/ng764.
3	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.