VWM
MCID: LKN001
MIFTS: 62

Leukoencephalopathy with Vanishing White Matter (VWM)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukoencephalopathy with Vanishing White Matter

MalaCards integrated aliases for Leukoencephalopathy with Vanishing White Matter:

Name: Leukoencephalopathy with Vanishing White Matter 57 11 19 42 58 73 12 14 75
Vanishing White Matter Disease 19 42 73 28 5 71
Cree Leukoencephalopathy 57 11 42 58 73 53
Ovarioleukodystrophy 57 58 28 5 71
Vanishing White Matter Leukodystrophy 57 11 19 42
Childhood Ataxia with Central Nervous System Hypomyelinization 57 73 71
Myelinosis Centralis Diffusa 19 42 58
Cach Syndrome 19 42 58
Cach 57 11 73
Childhood Ataxia with Diffuse Central Nervous System Hypomyelination 19 58
Childhood Ataxia with Central Nervous System Hypomyelination 11 42
Cle 57 73
Vwm 57 73
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 19
Congenital or Early Infantile Cach Syndrome 58
Leukodystrophy with Vanishing White Matter 73
Juvenile or Adult Cach Syndrome 58
Late Infantile Cach Syndrome 58
Cree Leukoencehalopathy 19
Cach/vwm Syndrome 19
Cach/vwm 19

Characteristics:


Inheritance:

Leukoencephalopathy with Vanishing White Matter: Autosomal recessive 57
Ovarioleukodystrophy: Autosomal recessive 58
Cach Syndrome: Autosomal recessive 58

Prevelance:

Ovarioleukodystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Ovarioleukodystrophy: Adolescent,Adult,Childhood 58
Late Infantile Cach Syndrome: Childhood 58
Juvenile or Adult Cach Syndrome: Adolescent,Adult 58
Congenital or Early Infantile Cach Syndrome: Infancy,Neonatal 58
Cach Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset usually in late infancy or childhood (1 to 6 years)
onset may also occur in early infancy, adolescence, or adulthood
early death occurs in affected infants (days to months after disease onset)


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukoencephalopathy with Vanishing White Matter

MedlinePlus Genetics: 42 Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.In most cases, people with leukoencephalopathy with vanishing white matter show no signs or symptoms of the disorder at birth. Affected children may have slightly delayed development of motor skills such as crawling or walking. During early childhood, most affected individuals begin to develop motor symptoms, including abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). There may also be some deterioration of mental functioning, but this is not usually as pronounced as the motor symptoms. Some affected females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using magnetic resonance imaging (MRI) are characteristic of leukoencephalopathy with vanishing white matter, and may be visible before the onset of symptoms.While childhood onset is the most common form of leukoencephalopathy with vanishing white matter, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood, when behavioral or psychiatric problems may be the first signs of the disease. Some females with milder forms of leukoencephalopathy with vanishing white matter who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.Progression of leukoencephalopathy with vanishing white matter is generally uneven, with periods of relative stability interrupted by episodes of rapid decline. People with this disorder are particularly vulnerable to stresses such as infection, mild head trauma or other injury, or even extreme fright. These stresses may trigger the first symptoms of the condition or worsen existing symptoms, and can cause affected individuals to become lethargic or comatose.

MalaCards based summary: Leukoencephalopathy with Vanishing White Matter, also known as vanishing white matter disease, is related to childhood ataxia with central nervous system hypomyelination / vanishing white matter and leukodystrophy, and has symptoms including lethargy, personality changes and seizures. An important gene associated with Leukoencephalopathy with Vanishing White Matter is EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon), and among its related pathways/superpathways are Metabolism of proteins and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include spinal cord, brain and thalamus, and related phenotypes are brain imaging abnormality and dysmyelinating leukodystrophy

UniProtKB/Swiss-Prot: 73 A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.

Orphanet: 58 A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.

OMIM®: 57 Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997). (603896) (Updated 08-Dec-2022)

GARD: 19 Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by genetic changes in any of 5 genes and is inherited in an autosomal recessive manner.

Disease Ontology: 11 A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material basis in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27.

Wikipedia: 75 Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological... more...

Related Diseases for Leukoencephalopathy with Vanishing White Matter

Diseases related to Leukoencephalopathy with Vanishing White Matter via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 childhood ataxia with central nervous system hypomyelination / vanishing white matter 33.0 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 leukodystrophy 30.6 GJC2 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 leukoencephalopathy, hereditary diffuse, with spheroids 1 30.4 EIF2B5 EIF2B4 EIF2B3 AARS2
4 cutaneous lupus erythematosus 11.4
5 rare cutaneous lupus erythematosus 11.3
6 emphysema, congenital lobar 11.3
7 lupus erythematosus tumidus 10.9
8 subacute cutaneous lupus erythematosus 10.9
9 chronic cutaneous lupus erythematosus 10.9
10 spasticity 10.5
11 aceruloplasminemia 10.4
12 lupus erythematosus 10.4
13 systemic lupus erythematosus 10.4
14 neuropathy 10.4
15 leukodystrophy, hypomyelinating, 13 10.4 EIF2B4 EIF2B3 EIF2B2
16 hemangioma of intra-abdominal structure 10.3 EIF2B4 EIF2B3 EIF2B2 EIF2B1
17 leukodystrophy, hypomyelinating, 10 10.3 EIF2B4 EIF2B3 EIF2B2
18 leukodystrophy, hypomyelinating, 9 10.3 GJC2 EIF2B4 EIF2B3
19 spastic ataxia 8 10.3 EIF2B4 EIF2B3
20 ocular motor apraxia 10.3
21 3-methylglutaconic aciduria, type iii 10.3
22 ataxia with vitamin e deficiency 10.3
23 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.3 GJC2 EIF2B4 EIF2B3
24 megalencephalic leukoencephalopathy with subcortical cysts 1 10.3 GJC2 GCDH EIF2B5 EIF2B1
25 leukodystrophy, hypomyelinating, 12 10.3 GJC2 EIF2B4 EIF2B3 EIF2B2 EIF2B1
26 multiple sclerosis 10.3
27 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.3 GJC2 EIF2B4 EIF2B3 EIF2B2 EIF2B1
28 hypomyelinating leukoencephalopathy 10.3 GJC2 EIF2B2
29 spastic ataxia 4 10.3 EIF2B2 EIF2B1
30 combined saposin deficiency 10.3 LRIT1 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
31 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.3 PPP1R15B EIF2S1 EIF2AK4
32 hypomyelinating leukodystrophy 10.3 GJC2 EIF2B5 EIF2B1 AARS2
33 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.3
34 prion disease 10.3
35 glycogen storage disease xv 10.3 EIF2B4 EIF2B3
36 cerebral degeneration 10.2 GJC2 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
37 migraine with or without aura 1 10.2
38 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
39 premature ovarian failure 7 10.2
40 aphasia 10.2
41 optic nerve disease 10.2
42 peripheral nervous system disease 10.2
43 children's interstitial lung disease 10.2
44 leukodystrophy, hypomyelinating, 5 10.2 GJC2 EIF2B5
45 glycine encephalopathy 10.2
46 microcephaly, seizures, and developmental delay 10.2
47 premature menopause 10.2
48 status epilepticus 10.2
49 spinal cord disease 10.2
50 movement disease 10.2

Graphical network of the top 20 diseases related to Leukoencephalopathy with Vanishing White Matter:



Diseases related to Leukoencephalopathy with Vanishing White Matter

Symptoms & Phenotypes for Leukoencephalopathy with Vanishing White Matter

Human phenotypes related to Leukoencephalopathy with Vanishing White Matter:

58 30 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain imaging abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0410263
2 dysmyelinating leukodystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006978
3 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
4 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
5 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
6 premature ovarian insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0008209
7 irritability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000737
8 cerebral atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002059
9 progressive neurologic deterioration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002344
10 cerebellar vermis atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0006855
11 atrophy/degeneration affecting the brainstem 58 30 Frequent (33%) Frequent (79-30%)
HP:0007366
12 limb ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002070
13 truncal ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002078
14 macrocephaly 30 Frequent (33%) HP:0000256
15 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
16 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
17 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
18 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
19 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
20 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002013
21 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
22 primary amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000786
23 secondary amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000869
24 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001270
25 renal hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000089
26 dysmetria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001310
27 decreased fetal movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001558
28 migraine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002076
29 arthrogryposis multiplex congenita 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002804
30 oligohydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001562
31 encephalopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001298
32 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
33 gonadal dysgenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000133
34 mild global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011342
35 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
36 spastic diplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001264
37 hepatosplenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001433
38 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
39 optic neuritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100653
40 apathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000741
41 nonketotic hyperglycinemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008288
42 infantile muscular hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008947
43 widened subarachnoid space 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012704
44 t2 hypointense thalamus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012690
45 dysgyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032398
46 lateral ventricle dilatation 30 Occasional (7.5%) HP:0006956
47 abnormal pons morphology 30 Occasional (7.5%) HP:0007361
48 progressive macrocephaly 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004481
49 spasticity 58 30 Frequent (79-30%)
HP:0001257
50 emotional lability 30 HP:0000712

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
dysarthria
hypotonia
lethargy
unsteady gait
more
Head And Neck Eyes:
optic atrophy
blindness may occur in affected infants

Genitourinary Internal Genitalia Female:
primary gonadal insufficiency
ovarian failure, in a subset of affected patients (ovarioleukodystrophy)

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
personality changes
delusions
indifference
psychiatric manifestations more common with adult-onset of disease

Endocrine Features:
secondary amenorrhea
subset of patients with ovarioleukodystrophy have primary amenorrhea
increased serum gonadotropins
decreased serum estrogen
decreased serum progesterone

Head And Neck Head:
cessation of head growth in affected infants
macrocephaly may develop in those who survive past age 2 years

Clinical features from OMIM®:

603896 (Updated 08-Dec-2022)

UMLS symptoms related to Leukoencephalopathy with Vanishing White Matter:


lethargy; personality changes; seizures; memory loss; muscle spasticity

GenomeRNAi Phenotypes related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:

25 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.61 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
2 Decreased OCT4 protein expression GR00184-A-5 10.61 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
3 Decreased OCT4 protein expression GR00184-A-7 10.61 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
4 Decreased NANOG protein expression GR00184-A-3 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
5 Decreased NANOG protein expression GR00184-A-6 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
6 Decreased NANOG protein expression GR00184-A-8 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
7 Decreased POU5F1-GFP protein expression GR00184-A-1 10.34 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2 PPP1R15B
8 Decreased POU5F1-GFP protein expression GR00184-A-4 10.34 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.19 EIF2B2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.19 EIF2B1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.19 EIF2B2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.19 PPP1R15B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.19 EIF2B4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.19 EIF2B2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.19 EIF2B2 EIF2B5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.19 EIF2B1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.19 EIF2B5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.19 PPP1R15B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.19 PPP1R15B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.19 EIF2B1 EIF2B5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.19 EIF2B5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.19 EIF2B4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.19 EIF2B1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.19 EIF2B1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.19 EIF2B1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.19 EIF2B4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.19 EIF2B4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.19 EIF2B2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.19 EIF2B2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-28 10.19 PPP1R15B
31 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.19 EIF2B5
32 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.19 EIF2B1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.19 EIF2B2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.19 PPP1R15B
35 Increased shRNA abundance (Z-score > 2) GR00366-A-71 10.19 PPP1R15B
36 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.19 EIF2B2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.19 PPP1R15B
38 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.19 EIF2B4
39 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.19 PPP1R15B
40 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.19 EIF2B1
41 Reduced mammosphere formation GR00396-S 9.32 EIF1 EIF2AK4 EIF2B1 EIF2B2 EIF2B4 EIF2B5

MGI Mouse Phenotypes related to Leukoencephalopathy with Vanishing White Matter:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 AARS2 ACOT11 ANKLE2 EIF2AK4 EIF2B4 EIF2B5

Drugs & Therapeutics for Leukoencephalopathy with Vanishing White Matter

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369

Search NIH Clinical Center for Leukoencephalopathy with Vanishing White Matter

Genetic Tests for Leukoencephalopathy with Vanishing White Matter

Genetic tests related to Leukoencephalopathy with Vanishing White Matter:

# Genetic test Affiliating Genes
1 Vanishing White Matter Disease 28 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 Ovarioleukodystrophy 28

Anatomical Context for Leukoencephalopathy with Vanishing White Matter

Organs/tissues related to Leukoencephalopathy with Vanishing White Matter:

MalaCards : Spinal Cord, Brain, Thalamus, Pons, Cortex, Pancreatic Islet, Lung

Publications for Leukoencephalopathy with Vanishing White Matter

Articles related to Leukoencephalopathy with Vanishing White Matter:

(show top 50) (show all 361)
# Title Authors PMID Year
1
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. 53 62 57 5
15054402 2004
2
Genotype-phenotype correlation in vanishing white matter disease. 62 57 5
20975056 2010
3
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 62 57 5
19158808 2009
4
Genetic and clinical heterogeneity in eIF2B-related disorder. 62 57 5
18263758 2008
5
Identification of ten novel mutations in patients with eIF2B-related disorders. 62 57 5
15776425 2005
6
EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. 62 57 5
15723074 2005
7
The effect of genotype on the natural history of eIF2B-related leukodystrophies. 62 57 5
15136673 2004
8
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. 62 57 5
15136690 2004
9
Leukoencephalopathy with vanishing white matter:: an adult onset case. 62 57 5
14694060 2003
10
eIF2B-related disorders: antenatal onset and involvement of multiple organs. 62 57 5
14566705 2003
11
Ovarian failure related to eukaryotic initiation factor 2B mutations. 62 57 5
12707859 2003
12
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 62 57 5
12325082 2002
13
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 62 57 5
11835386 2002
14
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 62 57 5
11704758 2001
15
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 57 5
21484434 2011
16
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. 57 5
17646634 2007
17
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease. 62 5
32071834 2020
18
EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response. 62 5
29632131 2018
19
Ovarioleukodystrophy due to EIF2B5 mutations. 62 5
27651498 2016
20
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 62 5
25843247 2015
21
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease. 62 5
26285592 2015
22
Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes. 62 5
26112719 2015
23
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. 62 5
25761052 2015
24
Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature. 62 5
24938145 2014
25
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study. 62 5
22128017 2012
26
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. 62 5
21560189 2011
27
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease. 62 5
21307862 2011
28
Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. 62 5
22699478 2011
29
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients. 62 5
20958979 2010
30
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. 62 5
20016818 2009
31
Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease. 62 5
19909266 2009
32
Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease. 62 5
18845387 2008
33
The ovarioleukodystrophy. 62 5
18678442 2008
34
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor. 62 5
18005052 2008
35
The spectrum of mutations for the diagnosis of vanishing white matter disease. 62 5
16998732 2006
36
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. 62 57
16864840 2006
37
Vanishing white matter disease: a review with focus on its genetics. 62 5
16807905 2006
38
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. 62 5
16041584 2005
39
Fright is a provoking factor in vanishing white matter disease. 62 57
15786451 2005
40
Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure. 62 5
15507143 2004
41
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. 62 5
15060152 2004
42
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. 62 5
12499492 2002
43
Cree leukoencephalopathy: neuroimaging findings. 62 57
10551219 1999
44
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. 62 57
10441579 1999
45
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. 62 57
10334484 1999
46
Phenotypic variation in leukoencephalopathy with vanishing white matter. 62 57
9710032 1998
47
A new leukoencephalopathy with vanishing white matter. 62 57
9109866 1997
48
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. 62 57
7644053 1995
49
Childhood ataxia with diffuse central nervous system hypomyelination. 62 57
8122885 1994
50
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients. 5
35389136 2022

Variations for Leukoencephalopathy with Vanishing White Matter

ClinVar genetic disease variations for Leukoencephalopathy with Vanishing White Matter:

5 (show top 50) (show all 344)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF2B1 NM_001414.4(EIF2B1):c.622A>T (p.Asn208Tyr) SNV Pathogenic
4124 rs113994007 GRCh37: 12:124109339-124109339
GRCh38: 12:123624792-123624792
2 EIF2B3 NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln) SNV Pathogenic
4437 rs113994024 GRCh37: 1:45347394-45347394
GRCh38: 1:44881722-44881722
3 EIF2B5 NM_003907.3(EIF2B5):c.1882T>C (p.Trp628Arg) SNV Pathogenic
5943 rs28937596 GRCh37: 3:183861899-183861899
GRCh38: 3:184144111-184144111
4 EIF2B5 NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val) SNV Pathogenic
5944 rs113994074 GRCh37: 3:183859713-183859713
GRCh38: 3:184141925-184141925
5 EIF2B5 NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys) SNV Pathogenic
5952 rs121908541 GRCh37: 3:183853340-183853340
GRCh38: 3:184135552-184135552
6 EIF2B5 NM_003907.3(EIF2B5):c.808G>C (p.Asp270His) SNV Pathogenic
40178 rs397514646 GRCh37: 3:183857910-183857910
GRCh38: 3:184140122-184140122
7 EIF2B3 NM_020365.5(EIF2B3):c.80T>A (p.Leu27Gln) SNV Pathogenic
40179 rs397514647 GRCh37: 1:45446761-45446761
GRCh38: 1:44981089-44981089
8 EIF2B1 NM_001414.4(EIF2B1):c.610GGA[1] (p.Gly205del) MICROSAT Pathogenic
217280 rs863225051 GRCh37: 12:124109346-124109348
GRCh38: 12:123624799-123624801
9 EIF2B1 NM_001414.4(EIF2B1):c.833C>G (p.Pro278Arg) SNV Pathogenic
217278 rs863225049 GRCh37: 12:124106388-124106388
GRCh38: 12:123621841-123621841
10 EIF2B1 NM_001414.4(EIF2B1):c.715T>G (p.Phe239Val) SNV Pathogenic
217282 rs863225052 GRCh37: 12:124107221-124107221
GRCh38: 12:123622674-123622674
11 EIF2B1 NM_001414.4(EIF2B1):c.328A>G (p.Lys110Glu) SNV Pathogenic
217279 rs863225050 GRCh37: 12:124114757-124114757
GRCh38: 12:123630210-123630210
12 EIF2B1 NM_001414.4(EIF2B1):c.547G>T (p.Val183Phe) SNV Pathogenic
217277 rs863225048 GRCh37: 12:124110976-124110976
GRCh38: 12:123626429-123626429
13 GTF3C2-AS2, EIF2B4 NM_001034116.2(EIF2B4):c.1191+1G>A SNV Pathogenic
4119 rs113994037 GRCh37: 2:27589625-27589625
GRCh38: 2:27366758-27366758
14 EIF2B4 NM_001034116.2(EIF2B4):c.683C>T (p.Ala228Val) SNV Pathogenic
4120 rs113994027 GRCh37: 2:27590914-27590914
GRCh38: 2:27368047-27368047
15 EIF2B5 NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser) SNV Pathogenic
932170 rs1713781736 GRCh37: 3:183862398-183862398
GRCh38: 3:184144610-184144610
16 EIF2B2 NM_014239.4(EIF2B2):c.42del (p.Ile15fs) DEL Pathogenic
984939 rs1889561523 GRCh37: 14:75469734-75469734
GRCh38: 14:75003031-75003031
17 EIF2B5 NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter) SNV Pathogenic
1028674 rs753507995 GRCh37: 3:183860330-183860330
GRCh38: 3:184142542-184142542
18 EIF2B2 NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter) SNV Pathogenic
1030309 rs957633719 GRCh37: 14:75469787-75469787
GRCh38: 14:75003084-75003084
19 EIF2B3 NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro) SNV Pathogenic
1285271 GRCh37: 1:45347394-45347394
GRCh38: 1:44881722-44881722
20 EIF2B2 NM_014239.4(EIF2B2):c.694-1G>C SNV Pathogenic
1322820 GRCh37: 14:75473279-75473279
GRCh38: 14:75006576-75006576
21 EIF2B5 NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) SNV Pathogenic
5950 rs113994064 GRCh37: 3:183858306-183858306
GRCh38: 3:184140518-184140518
22 EIF2B2 NM_014239.4(EIF2B2):c.922G>A (p.Val308Met) SNV Pathogenic
522641 rs372548739 GRCh37: 14:75475757-75475757
GRCh38: 14:75009054-75009054
23 EIF2B5 NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser) SNV Pathogenic
1685765 GRCh37: 3:183858251-183858251
GRCh38: 3:184140463-184140463
24 GTF3C2-AS2, EIF2B4 NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg) SNV Pathogenic
4121 rs113994038 GRCh37: 2:27587446-27587446
GRCh38: 2:27364579-27364579
25 GTF3C2-AS2, EIF2B4 NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His) SNV Pathogenic
4122 rs113994040 GRCh37: 2:27587374-27587374
GRCh38: 2:27364507-27364507
26 EIF2B2 NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter) SNV Pathogenic
4338 rs104894427 GRCh37: 14:75471553-75471553
GRCh38: 14:75004850-75004850
27 EIF2B2 NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe) SNV Pathogenic
4339 rs104894428 GRCh37: 14:75471518-75471518
GRCh38: 14:75004815-75004815
28 EIF2B2 NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs) INDEL Pathogenic
Pathogenic
4340 rs113994014 GRCh37: 14:75472578-75472583
GRCh38: 14:75005875-75005880
29 EIF2B5 NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys) SNV Pathogenic
5948 rs113994055 GRCh37: 3:183855762-183855762
GRCh38: 3:184137974-184137974
30 EIF2B5 NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) SNV Pathogenic
813359 rs113994080 GRCh37: 3:183860062-183860062
GRCh38: 3:184142274-184142274
31 GTF3C2-AS2, EIF2B4 NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys) SNV Pathogenic
4118 rs113994035 GRCh37: 2:27589697-27589697
GRCh38: 2:27366830-27366830
32 EIF2B5 NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val) SNV Pathogenic
5951 rs113994043 GRCh37: 3:183853339-183853339
GRCh38: 3:184135551-184135551
33 EIF2B2 NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu) SNV Pathogenic
40180 rs397514648 GRCh37: 14:75470068-75470068
GRCh38: 14:75003365-75003365
34 EIF2B5 NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) SNV Pathogenic
420049 rs1064794256 GRCh37: 3:183861963-183861963
GRCh38: 3:184144175-184144175
35 EIF2B5 NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) SNV Pathogenic
802032 rs958193703 GRCh37: 3:183855494-183855494
GRCh38: 3:184137706-184137706
36 EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys) SNV Pathogenic
598970 rs113994063 GRCh37: 3:183858305-183858305
GRCh38: 3:184140517-184140517
37 EIF2B2 NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) SNV Pathogenic
Pathogenic
4336 rs104894425 GRCh37: 14:75472609-75472609
GRCh38: 14:75005906-75005906
38 EIF2B5 NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) SNV Pathogenic
5946 rs113994054 GRCh37: 3:183855763-183855763
GRCh38: 3:184137975-184137975
39 EIF2B5 NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) SNV Pathogenic
666195 rs113994068 GRCh37: 3:183858377-183858377
GRCh38: 3:184140589-184140589
40 EIF2B5 NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) SNV Pathogenic
692119 rs113994069 GRCh37: 3:183858378-183858378
GRCh38: 3:184140590-184140590
41 EIF2B3 NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr) SNV Pathogenic
4440 rs119474039 GRCh37: 1:45341306-45341306
GRCh38: 1:44875634-44875634
42 EIF2B5 NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu) SNV Pathogenic
5947 rs113994061 GRCh37: 3:183858287-183858287
GRCh38: 3:184140499-184140499
43 ANKLE2 NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) SNV Pathogenic
930179 rs1380982250 GRCh37: 12:133310992-133310992
GRCh38: 12:132734406-132734406
44 EIF2B5 NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) SNV Pathogenic
Pathogenic
5945 rs113994049 GRCh37: 3:183855425-183855425
GRCh38: 3:184137637-184137637
45 EIF2B2 NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp) SNV Pathogenic
4337 rs104894426 GRCh37: 14:75475782-75475782
GRCh38: 14:75009079-75009079
46 EIF2B5 NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) SNV Pathogenic
5949 rs113994053 GRCh37: 3:183855724-183855724
GRCh38: 3:184137936-184137936
47 EIF2B3 NM_020365.5(EIF2B3):c.1193_1194del (p.Val398fs) MICROSAT Pathogenic
4438 GRCh37: 1:45340358-45340359
GRCh38: 1:44874686-44874687
48 GTF3C2-AS2, EIF2B4 NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu) SNV Pathogenic
420062 rs113994030 GRCh37: 2:27590667-27590667
GRCh38: 2:27367800-27367800
49 EIF2B5 NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val) SNV Pathogenic
872660 rs545593935 GRCh37: 3:183859764-183859764
GRCh38: 3:184141976-184141976
50 EIF2B5 NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) SNV Pathogenic/Likely Pathogenic
1184948 GRCh37: 3:183858275-183858275
GRCh38: 3:184140487-184140487

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Vanishing White Matter:

73 (show top 50) (show all 52)
# Symbol AA change Variation ID SNP ID
1 EIF2B1 p.Asn208Tyr VAR_015404 rs113994007
2 EIF2B1 p.Val183Phe VAR_068450 rs863225048
3 EIF2B2 p.Glu213Gly VAR_012289 rs104894425
4 EIF2B2 p.Val316Asp VAR_012290 rs104894426
5 EIF2B2 p.Lys273Arg VAR_012321 rs113994016
6 EIF2B2 p.Gly329Val VAR_012322 rs113994020
7 EIF2B2 p.Ser171Phe VAR_016842 rs104894428
8 EIF2B2 p.Val85Glu VAR_068451 rs397514648
9 EIF2B2 p.Pro196Ser VAR_068452 rs113994011
10 EIF2B2 p.Gly200Val VAR_068453 rs113994012
11 EIF2B2 p.Cys268Tyr VAR_068454
12 EIF2B3 p.Ala87Val VAR_015409 rs113994022
13 EIF2B3 p.Arg225Gln VAR_015410 rs113994024
14 EIF2B3 p.Leu27Gln VAR_068470 rs397514647
15 EIF2B3 p.Gly47Glu VAR_068471
16 EIF2B3 p.Ile346Thr VAR_068472 rs119474039
17 EIF2B4 p.Ala228Val VAR_015405 rs113994027
18 EIF2B4 p.Arg357Gln VAR_015407 rs113994033
19 EIF2B4 p.Arg374Cys VAR_015408 rs113994035
20 EIF2B4 p.Cys465Arg VAR_016843 rs113994038
21 EIF2B4 p.Tyr489His VAR_016844 rs113994040
22 EIF2B4 p.Arg209Gln VAR_068455 rs113994028
23 EIF2B4 p.Leu269Arg VAR_068456 rs113994031
24 EIF2B5 p.Thr91Ala VAR_012291 rs28939717
25 EIF2B5 p.Arg113His VAR_012292 rs113994049
26 EIF2B5 p.Gly386Val VAR_012293 rs113994074
27 EIF2B5 p.Trp628Arg VAR_012294 rs28937596
28 EIF2B5 p.Val73Gly VAR_012323 rs113994045
29 EIF2B5 p.Leu106Phe VAR_012324 rs113994048
30 EIF2B5 p.Arg299His VAR_012325 rs113994060
31 EIF2B5 p.Arg315Gly VAR_012326 rs113994063
32 EIF2B5 p.Arg315His VAR_012327 rs113994064
33 EIF2B5 p.Arg339Pro VAR_012328 rs113994069
34 EIF2B5 p.Arg339Gln VAR_012329 rs113994069
35 EIF2B5 p.Arg339Trp VAR_012330 rs113994068
36 EIF2B5 p.Val430Ala VAR_012331 rs113994079
37 EIF2B5 p.Glu650Lys VAR_012333 rs113994085
38 EIF2B5 p.Arg195Cys VAR_016845 rs113994055
39 EIF2B5 p.Arg195His VAR_016846 rs113994054
40 EIF2B5 p.Asp62Val VAR_068457 rs1560105986
41 EIF2B5 p.Leu68Ser VAR_068458 rs113994044
42 EIF2B5 p.Ala74Thr VAR_068459 rs113994046
43 EIF2B5 p.Arg113Cys VAR_068460 rs113994050
44 EIF2B5 p.Arg269Gly VAR_068461 rs113994058
45 EIF2B5 p.Arg269Gln VAR_068462 rs113994057
46 EIF2B5 p.Asp270His VAR_068463 rs397514646
47 EIF2B5 p.Cys310Phe VAR_068464 rs113994062
48 EIF2B5 p.Arg315Cys VAR_068465 rs113994063
49 EIF2B5 p.Cys335Arg VAR_068466 rs113994067
50 EIF2B5 p.Cys335Ser VAR_068467

Expression for Leukoencephalopathy with Vanishing White Matter

Search GEO for disease gene expression data for Leukoencephalopathy with Vanishing White Matter.

Pathways for Leukoencephalopathy with Vanishing White Matter

Pathways related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
2
Show member pathways
13.58 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
3
Show member pathways
13.38 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
4
Show member pathways
12.86 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5
Show member pathways
12.67 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
6
Show member pathways
12.63 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
7
Show member pathways
12.26 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
8
Show member pathways
12.12 EIF2S1 EIF2S2 EIF2S3 EIF5
9
Show member pathways
12.06 EIF5 EIF2S1 EIF2B5 EIF2AK4 EIF1
10
Show member pathways
11.38 EIF2S3 EIF2S2 EIF2S1
11
Show member pathways
11.19 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
12 10.67 EIF2S1 EIF2S2 EIF2S3

GO Terms for Leukoencephalopathy with Vanishing White Matter

Cellular components related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eukaryotic translation initiation factor 2 complex GO:0005850 9.43 EIF2S3 EIF2S2 EIF2S1
2 eukaryotic translation initiation factor 2B complex GO:0005851 9.4 EIF2S1 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

Biological processes related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 10.34 ANKLE2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 T cell receptor signaling pathway GO:0050852 10.16 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 response to glucose GO:0009749 10.1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 response to peptide hormone GO:0043434 10.07 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5 response to endoplasmic reticulum stress GO:0034976 10.03 PPP1R15B EIF2S1 EIF2B5
6 regulation of translational initiation GO:0006446 10.03 EIF5 EIF2B2 EIF2AK4 EIF1
7 myelination GO:0042552 10.02 EIF2B5 EIF2B4 EIF2B2
8 response to heat GO:0009408 10.02 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9 ovarian follicle development GO:0001541 10.01 EIF2B5 EIF2B4 EIF2B2
10 formation of translation preinitiation complex GO:0001731 9.95 EIF5 EIF2S3 EIF2S2
11 regulation of translation GO:0006417 9.92 PPP1R15B EIF2S1 EIF2B4 EIF2AK4
12 formation of cytoplasmic translation initiation complex GO:0001732 9.87 EIF5 EIF2S2
13 oligodendrocyte development GO:0014003 9.85 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
14 negative regulation of translational initiation in response to stress GO:0032057 9.81 EIF2AK4 EIF2S1
15 translation GO:0006412 9.7 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
16 translational initiation GO:0006413 9.58 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
17 cellular metabolic process GO:0044237 9.43 EIF2B4 EIF2B2 EIF2B1

Molecular functions related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.96 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 tRNA binding GO:0000049 9.88 EIF2S3 EIF2AK4 AARS2
3 acyl-CoA hydrolase activity GO:0047617 9.73 ACOT12 ACOT11
4 translation initiation factor binding GO:0031369 9.63 EIF2B4 EIF2B5 EIF2S2
5 long-chain fatty acyl-CoA binding GO:0036042 9.62 ACOT12 ACOT11
6 translation initiation factor activity GO:0003743 9.62 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
7 translation factor activity, RNA binding GO:0008135 9.56 EIF2S3 EIF2S2 EIF2B3 EIF1
8 thiolester hydrolase activity GO:0016790 9.37 ACOT12 ACOT11

Sources for Leukoencephalopathy with Vanishing White Matter

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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