Details of Disease | DrugMAP

General Information of Disease (ID: DIS72ZXN)

Disease Name	Leukoencephalopathy with vanishing white matter 1
Synonyms	Cree leukoencephalopathy; CACH; vanishing white matter leukodystrophy; childhood ataxia with central nervous system hypomyelinization
Definition	Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.
Disease Hierarchy	DIS3J8NN: Leukoencephalopathy with vanishing white matter DIS72ZXN: Leukoencephalopathy with vanishing white matter 1
Disease Identifiers	MONDO ID MONDO_0020507 UMLS CUI C5779972 OMIM ID 603896 MedGen ID 1830482 Orphanet ID 99854

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]
EIF2B2	OTQQMHM1	Strong	Autosomal recessive	[2]
EIF2B3	OTG6HE7D	Strong	Autosomal recessive	[1]
EIF2B4	OTTM5SX1	Definitive	Autosomal recessive	[3]
EIF2B5	OTV3R4RB	Definitive	Autosomal recessive	[4]
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References

1	Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol. 2002 Feb;51(2):264-70. doi: 10.1002/ana.10112.
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	Vanishing white matter disease: the first reported chinese patient. J Child Neurol. 2008 Jun;23(6):710-4. doi: 10.1177/0883073808314154.
4	A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev. 2015 Jun;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002. Epub 2014 Oct 27.