MCID: CHL150
MIFTS: 24

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

Categories: Neuronal diseases

Aliases & Classifications for Childhood Ataxia with Central Nervous System Hypomyelination /...

MalaCards integrated aliases for Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter:

Name: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter 24
Leukoencephalopathy with Vanishing White Matter 24
Cach/vwm 24

Characteristics:

GeneReviews:

24
Penetrance Some adults who are homozygous or compound heterozygous for two disease-causing pathogenic variants in the same gene may be asymptomatic for prolonged periods of time [hamilton et al 2018].

Classifications:



Summaries for Childhood Ataxia with Central Nervous System Hypomyelination /...

MalaCards based summary : Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter, also known as leukoencephalopathy with vanishing white matter, is related to leukoencephalopathy with vanishing white matter and leukodystrophy. An important gene associated with Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter is EIF2B1 (Eukaryotic Translation Initiation Factor 2B Subunit Alpha), and among its related pathways/superpathways are Gene Expression and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include spinal cord and brain, and related phenotypes are Decreased NANOG protein expression and Decreased NANOG protein expression

GeneReviews: NBK1258

Related Diseases for Childhood Ataxia with Central Nervous System Hypomyelination /...

Diseases related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 leukoencephalopathy with vanishing white matter 31.0 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 leukodystrophy 27.6 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 yeast factor 10.4
4 3-methylglutaconic aciduria, type iii 10.4
5 ataxia and polyneuropathy, adult-onset 10.4
6 spasticity 10.4
7 autosomal recessive disease 10.4
8 ocular motor apraxia 10.3
9 dementia 10.3
10 glycine encephalopathy 10.1
11 spinal cord disease 10.1
12 head injury 10.1
13 hypotonia 10.1
14 tremor 10.1
15 spastic ataxia 4 9.7 EIF2B2 EIF2B1
16 glycogen storage disease xv 9.3 EIF2B4 EIF2B3
17 premature ovarian failure 1 9.2 EIF2B4 EIF2B2
18 combined saposin deficiency 8.7 EIF2B4 EIF2B3 EIF2B2 EIF2B1
19 mehmo syndrome 8.4 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
20 cerebral degeneration 8.4 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Graphical network of the top 20 diseases related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter:



Diseases related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

Symptoms & Phenotypes for Childhood Ataxia with Central Nervous System Hypomyelination /...

GenomeRNAi Phenotypes related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
2 Decreased NANOG protein expression GR00184-A-6 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
3 Decreased NANOG protein expression GR00184-A-8 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
4 Decreased OCT4 protein expression GR00184-A-2 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4
5 Decreased OCT4 protein expression GR00184-A-5 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4
6 Decreased OCT4 protein expression GR00184-A-7 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.39 EIF2B2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.39 EIF2B1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.39 EIF2B2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.39 EIF2B4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.39 EIF2B2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.39 EIF2B2 EIF2B5 EIF2B3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.39 EIF2B1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.39 EIF2B5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.39 EIF2B5 EIF2B1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.39 EIF2B5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.39 EIF2B4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.39 EIF2B1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.39 EIF2B1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.39 EIF2B1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.39 EIF2B4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.39 EIF2B4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.39 EIF2B2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.39 EIF2B2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.39 EIF2B3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.39 EIF2B5
27 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.39 EIF2B1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.39 EIF2B2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.39 EIF2B2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.39 EIF2B4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.39 EIF2B1
32 Decreased POU5F1-GFP protein expression GR00184-A-1 10.06 EIF2B1 EIF2B2 EIF2B3 EIF2B4
33 Decreased POU5F1-GFP protein expression GR00184-A-4 10.06 EIF2B1 EIF2B2 EIF2B3 EIF2B4
34 Reduced mammosphere formation GR00396-S 8.92 EIF2B1 EIF2B2 EIF2B4 EIF2B5

Drugs & Therapeutics for Childhood Ataxia with Central Nervous System Hypomyelination /...

Search Clinical Trials , NIH Clinical Center for Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

Genetic Tests for Childhood Ataxia with Central Nervous System Hypomyelination /...

Anatomical Context for Childhood Ataxia with Central Nervous System Hypomyelination /...

MalaCards organs/tissues related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter:

40
Spinal Cord, Brain

Publications for Childhood Ataxia with Central Nervous System Hypomyelination /...

Articles related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter:

(show top 50) (show all 93)
# Title Authors PMID Year
1
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. 24 61
30073106 2018
2
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. 61 24
25761052 2015
3
Leukoencephalopathy with vanishing white matter: a review. 61 24
20838246 2010
4
Defective translation initiation causes vanishing of cerebral white matter. 24 61
16545608 2006
5
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. 24 61
15060152 2004
6
eIF2B-related disorders: antenatal onset and involvement of multiple organs. 24 61
14566705 2003
7
Ovarian failure related to eukaryotic initiation factor 2B mutations. 61 24
12707859 2003
8
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 61 24
11704758 2001
9
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. 61 24
10593550 1999
10
Natural History of Vanishing White Matter. 24
30014503 2018
11
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter. 24
29285798 2018
12
Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings. 24
28597716 2017
13
Clinical and genetic characterization of leukoencephalopathies in adults. 24
28334938 2017
14
Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene. 24
28904586 2017
15
Diabetic ketoacidosis in vanishing white matter. 24
27525068 2016
16
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 24
25843247 2015
17
Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4. 24
25600065 2015
18
Vanishing white matter disease in French-Canadian patients from Quebec. 24
25079571 2014
19
Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease. 24
23365098 2013
20
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease. 24
22678813 2012
21
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. 24
21560189 2011
22
Defective glial maturation in vanishing white matter disease. 24
21157376 2011
23
Genotype-phenotype correlation in vanishing white matter disease. 24
20975056 2010
24
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. 24
20016818 2009
25
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. 24
19625339 2009
26
Atypical presentation of vanishing white matter disease. 24
18813718 2008
27
Genetic and clinical heterogeneity in eIF2B-related disorder. 24
18263758 2008
28
Peripheral neuropathy in a child with Cree leukodystrophy. 24
17641267 2007
29
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. 24
16864840 2006
30
Vanishing white matter disease. 24
16632312 2006
31
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. 24
16155092 2005
32
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. 24
15054402 2004
33
The effect of genotype on the natural history of eIF2B-related leukodystrophies. 24
15136673 2004
34
Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity. 24
14993275 2004
35
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 24
12325082 2002
36
Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. 24
11078215 2000
37
Leukodystrophy in patients with ovarian dysgenesis. 24
9153528 1997
38
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. 61
32197074 2020
39
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. 61
32293553 2020
40
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease. 61
32071834 2020
41
Vanishing White Matter Disease Diagnosis After Athletic Concussion in an Adolescent Male Patient. 61
31688083 2019
42
[Clinical features of 54 cases of leukoencephalopathy with vanishing white matter disease in children]. 61
31665837 2019
43
LEUKOENCEPHALOPATHY WITH EVANESCENT WHITE MATTER: A CASE REPORT. 61
29995139 2018
44
Adulthood leukodystrophies. 61
29302065 2018
45
[Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease]. 61
28126977 2017
46
Expression, purification, and crystallization of Schizosaccharomyces pombe eIF2B. 61
27023709 2016
47
Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells. 61
27812215 2016
48
eIF2B: recent structural and functional insights into a key regulator of translation. 61
26614666 2015
49
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease. 61
26285592 2015
50
Analysis of the subunit organization of the eIF2B complex reveals new insights into its structure and regulation. 61
24532666 2014

Variations for Childhood Ataxia with Central Nervous System Hypomyelination /...

Expression for Childhood Ataxia with Central Nervous System Hypomyelination /...

Search GEO for disease gene expression data for Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.

Pathways for Childhood Ataxia with Central Nervous System Hypomyelination /...

Pathways related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2
Show member pathways
13.33 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3
Show member pathways
13.3 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4
Show member pathways
13.23 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5
Show member pathways
12.85 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
6
Show member pathways
12.54 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
7
Show member pathways
12.46 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
8
Show member pathways
12.35 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9 12.24 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
10 11.61 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
11
Show member pathways
10.81 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

GO Terms for Childhood Ataxia with Central Nervous System Hypomyelination /...

Cellular components related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.35 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 eukaryotic translation initiation factor 2B complex GO:0005851 9.02 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Biological processes related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.8 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 T cell receptor signaling pathway GO:0050852 9.77 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 translational initiation GO:0006413 9.72 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4 myelination GO:0042552 9.65 EIF2B5 EIF2B4 EIF2B2
5 response to glucose GO:0009749 9.65 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
6 ovarian follicle development GO:0001541 9.63 EIF2B5 EIF2B4 EIF2B2
7 cellular metabolic process GO:0044237 9.61 EIF2B4 EIF2B2 EIF2B1
8 response to peptide hormone GO:0043434 9.55 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9 hippocampus development GO:0021766 9.51 EIF2B5 EIF2B3
10 regulation of translational initiation GO:0006446 9.49 EIF2B2 EIF2B1
11 response to heat GO:0009408 9.35 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
12 oligodendrocyte development GO:0014003 9.02 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Molecular functions related to Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.35 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 translation initiation factor binding GO:0031369 9.16 EIF2B5 EIF2B4
3 translation initiation factor activity GO:0003743 9.02 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Sources for Childhood Ataxia with Central Nervous System Hypomyelination /...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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