# leukoencephalopathy with vanishing white matter

> human disease

**Wikidata**: [Q3508563](https://www.wikidata.org/wiki/Q3508563)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Leukoencephalopathy_with_vanishing_white_matter)  
**Source**: https://4ort.xyz/entity/leukoencephalopathy-with-vanishing-white-matter


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families
4. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000145191/Orphanet_135)
6. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119718/Orphanet_135)
8. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
9. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
10. eIF2B-related disorders: antenatal onset and involvement of multiple organs
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000115211/Orphanet_135)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)