Details of Disease | DrugMAP

General Information of Disease (ID: DIS4VEZH)

Disease Name	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Synonyms	Encephalitis/encephalopathy, mild, with reversible splenial lesion; encephalitis/encephalopathy, mild, with reversible myelin vacuolization; MMERV
Disease Hierarchy	DISP9UN3: Mendelian encephalopathy DIS4VEZH: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Disease Identifiers	MONDO ID MONDO_0020853 UMLS CUI C4722446 OMIM ID 618113 MedGen ID 1648328

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYRF	OTKF6AEB	Limited	Autosomal dominant	[1]
SARS1	OTFKXQ1O	Limited	Genetic Variation	[2]
CDSN	OTQW4HV6	moderate	Genetic Variation	[3]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Mutation of Asn-475 in the Venezuelan Equine Encephalitis Virus nsP2 Cysteine Protease Leads to a Self-Inhibited State.Biochemistry. 2017 Nov 28;56(47):6221-6230. doi: 10.1021/acs.biochem.7b00746. Epub 2017 Nov 9.
3	Mutations in the Spike Protein of Middle East Respiratory Syndrome Coronavirus Transmitted in Korea Increase Resistance to Antibody-Mediated Neutralization.J Virol. 2019 Jan 4;93(2):e01381-18. doi: 10.1128/JVI.01381-18. Print 2019 Jan 15.