(Q3508563)

English

leukoencephalopathy with vanishing white matter

human disease

CACH
childhood ataxia with central nervous system hypomyelination
CLE
vanishing white matter leukodystrophy
Cree leukoencephalopathy

In more languages

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Statements

0 references

0 references

1 reference

30 November 2020

3 references

Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families

stated in

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000145191/Orphanet_135

based on heuristic

inferred from an Open Targets association score over 0.7

EIF2B2

3 references

stated in

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

stated in

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000119718/Orphanet_135

based on heuristic

inferred from an Open Targets association score over 0.7

EIF2B1

1 reference

stated in

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

EIF2B3

1 reference

stated in

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

EIF2B4

3 references

stated in

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000115211/Orphanet_135

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C122664

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060868

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060868

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_135

0 references

http://www.orpha.net/ORDO/Orphanet_99854

0 references

Identifiers

0 references

1 reference

30 November 2020

1 reference

28 August 2019

Genetics Home Reference Conditions ID

leukoencephalopathy-with-vanishing-white-matter

0 references

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020507

Microsoft Academic ID

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

Leukoencephalopathy with vanishing white matter

0 references

Sitelinks

Wikipedia(7 entries)

arwiki اعتلال بيضاء الدماغ مع تلاشي المادة البيضاء
bswiki Leukoencefalopatija sa nestajanjem bijele mase
dewiki CACH-Syndrom
enwiki Leukoencephalopathy with vanishing white matter
frwiki Syndrome CACH
glwiki Leucoencefalopatía con desaparición da substancia branca
plwiki Leukoencefalopatia z zanikającą istotą białą

(Q3508563)

leukoencephalopathy with vanishing white matter

Statements

Identifiers

Sitelinks

Wikipedia(7 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

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Wikiversity(0 entries)

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