sameAs
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse waysThe gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genesMutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].A Japanese girl with leukoencephalopathy with vanishing white matter.Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.Leukoencephalopathy with vanishing white matter: a review.A case of leukoencephalopathy with vanishing white matter.Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families.Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging.Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.Phenotypic variation in leukoencephalopathy with vanishing white matter.Leukoencephalopathy with vanishing white matter:: an adult onset case.Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.Leukoencephalopathy with vanishing white matter presenting with presenile dementia.Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia.A new leukoencephalopathy with vanishing white matter.Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White MatterMultiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matterA Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.Phenotypic variation in leukoencephalopathy with vanishing white matter[Leukoencephalopathy with vanishing white matter: A case report]Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter[Megalencephalic leukoencephalopathy with vanishing white matter and cystic formation][Advances in functional study of EIF2B mutations in leukoencephalopathy with vanishing white matter][Leukoencephalopathy with vanishing white matter: a clinical case of adult onset][Adult onset of leukoencephalopathy with vanishing white matter][Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter]Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit
P921
Q24323177-C7DBE8F4-F63E-41DB-9AE4-B9F4596612C3Q24540145-91F2C1AF-2468-474D-B80A-E47B3ACB44DDQ28204796-3348E963-4E1D-4039-B206-56420F97FA1DQ28211740-9097BC3C-DFC2-4F43-BA3E-2B2A7D49F234Q28218053-8B1252E8-A401-4E9E-B590-7501096B7D26Q31110363-BCE69E0D-12E9-4C8F-9330-431EC2132B98Q32065878-0EA0989B-4FF8-4B18-BFCF-3AC692226994Q35168282-39C84F7D-6B5B-4C84-8D99-3DC3BAD39356Q37788513-97DD4EC7-6B7C-416B-BB88-85BCAB03733DQ40620808-BA52477E-3D15-4214-91FB-95578A0EA9C5Q43996543-683DEC1A-E759-4FE1-99F0-613696BB97D4Q44880590-B1F7F098-C3E6-48E7-9255-B78B55DAFD7BQ44891252-C804E66E-769D-424A-A96D-18045C302C25Q48089425-CAC430B3-3294-4E08-9867-2FA02B3792EEQ48107080-966BD1F8-0531-4EE3-96AE-2796E90001A8Q48477788-2CA0584A-A105-495F-816B-3448E81A9CA4Q48567761-025F7617-3BE2-4367-83CB-88DFE39FA1BBQ48712986-421C5E5C-92EE-4D77-AF27-BD8AF6306939Q48745750-E95F3E34-C229-4197-B32B-37004D2DE054Q56618727-CB262F6D-345B-4F89-8B9C-873D338DC981Q57911929-3945DA69-5D35-45FC-82DF-7240C61C4794Q64924259-15C1C2E0-E31F-4A08-A97D-19820B3AB2A0Q77114396-25842CB1-2581-407A-99C3-440B162F13B5Q79314896-AF467C1E-A05F-435E-AAF9-E3133F17AA59Q79374719-AC39FB4A-8CAB-4FA8-AAE4-1CAC5D1D5744Q81169352-91F3A360-6174-493B-9324-440CA0E019A4Q83643678-95A9A4D1-812D-4DEB-BCB2-DFD9D4279C29Q83790926-D54C9415-088D-4BBD-80FE-0069A61BFF0BQ84279831-0C721C65-B20C-4AC8-9472-3682119C8564Q84727721-680A9A7F-B10D-40EB-8CE9-CF08A579ACEDQ84960727-2F5E90C1-1F5A-4CEF-ABC9-BF0E8554C55B
P921
description
Krankheit
@de
human disease
@en
malattia
@it
name
CACH-Syndrom
@de
Leucoencefalopatía con desaparición da substancia branca
@gl
Leukoencefalopatia z zanikającą istotą białą
@pl
Syndrome CACH
@fr
leukoencephalopathy with vanishing white matter
@en
save
@sk
type
label
CACH-Syndrom
@de
Leucoencefalopatía con desaparición da substancia branca
@gl
Leukoencefalopatia z zanikającą istotą białą
@pl
Syndrome CACH
@fr
leukoencephalopathy with vanishing white matter
@en
save
@sk
altLabel
CACH
@en
CLE
@en
Cree leukoencephalopathy
@en
Encefalopatia Cree
@pl
Encefalopatia Kri
@pl
Owarioleukodystrofia
@pl
childhood ataxia with central nervous system hypomyelination
@en
vanishing white matter leukodystrophy
@en
prefLabel
CACH-Syndrom
@de
Leucoencefalopatía con desaparición da substancia branca
@gl
Leukoencefalopatia z zanikającą istotą białą
@pl
Syndrome CACH
@fr
leukoencephalopathy with vanishing white matter
@en
save
@sk
P2293
P2888
P6366
P1748
P279
P2892
P4229
P492
P5270
MONDO:0020507
P6366
2780983125
P699
DOID:0060868