Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
|
12325082 |
2002 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ovarian failure related to eukaryotic initiation factor 2B mutations.
|
12707859 |
2003 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
|
12325082 |
2002 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
MGD |
Astrocytes are central in the pathomechanisms of vanishing white matter.
|
26974157 |
2016 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Ovarian failure related to eukaryotic initiation factor 2B mutations.
|
12707859 |
2003 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
MGD |
A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter.
|
20826436 |
2010 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Identification of ten novel mutations in patients with eIF2B-related disorders.
|
15776425 |
2005 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.
|
15060152 |
2004 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
|
21560189 |
2011 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.
|
24938145 |
2014 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
MGD |
Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease.
|
23056417 |
2012 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
|
11704758 |
2001 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.
|
12325082 |
2002 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12.
|
25758335 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
|
19158808 |
2009 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
|
19158808 |
2009 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identified two heterozygous mutations in the EIF2B5 gene: a known mutation, c.584G>A (R195H, which is homozygous in CLE), and a novel mutation, c.1223T>C (I408T, which resides in the "I-patch").
|
25457085 |
2015 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
|
11704758 |
2001 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
BEFREE |
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients.
|
20958979 |
2010 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.
|
15136690 |
2004 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.
|
11704758 |
2001 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis.
|
16998732 |
2006 |
Childhood Ataxia with Central Nervous System Hypomyelinization
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in vanishing white matter disease.
|
20975056 |
2010 |