VWM
MCID: LKN001
MIFTS: 63

Leukoencephalopathy with Vanishing White Matter (VWM)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Vanishing White Matter

MalaCards integrated aliases for Leukoencephalopathy with Vanishing White Matter:

Name: Leukoencephalopathy with Vanishing White Matter 57 12 20 43 58 72 36 29 13 6 15 39
Cree Leukoencephalopathy 57 12 43 58 72 54
Vanishing White Matter Disease 20 43 72 6 70
Ovarioleukodystrophy 57 58 29 6 70
Vanishing White Matter Leukodystrophy 57 12 20 43
Childhood Ataxia with Central Nervous System Hypomyelinization 57 72 70
Myelinosis Centralis Diffusa 20 43 58
Cach Syndrome 20 43 58
Cach 57 12 72
Childhood Ataxia with Diffuse Central Nervous System Hypomyelination 20 58
Childhood Ataxia with Central Nervous System Hypomyelination 12 43
Cle 57 72
Vwm 57 72
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 20
Childhood Ataxia with Central Nervous System Hypomyelinization; Cach 57
Congenital or Early Infantile Cach Syndrome 58
Leukodystrophy with Vanishing White Matter 72
Juvenile or Adult Cach Syndrome 58
Cree Leukoencephalopathy; Cle 57
Late Infantile Cach Syndrome 58
Cree Leukoencehalopathy 20
Cach/vwm Syndrome 20
Cach/vwm 20

Characteristics:

Orphanet epidemiological data:

58
cach syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;
ovarioleukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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)


HPO:

31
leukoencephalopathy with vanishing white matter:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukoencephalopathy with Vanishing White Matter

MedlinePlus Genetics : 43 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 cree leukoencephalopathy, is related to childhood ataxia with central nervous system hypomyelination / vanishing white matter and leukoencephalopathy, progressive, with ovarian failure, and has symptoms including seizures, lethargy and personality changes. 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 RNA transport and Viral mRNA Translation. Affiliated tissues include spinal cord, thalamus and pons, and related phenotypes are brain imaging abnormality and dysmyelinating leukodystrophy

Disease Ontology : 12 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.

GARD : 20 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). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements ( ataxia ); muscle stiffness ( spasticity ); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe.

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 20-May-2021)

KEGG : 36 Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress.

UniProtKB/Swiss-Prot : 72 Leukodystrophy with vanishing white matter: 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.

Wikipedia : 73 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 89)
# Related Disease Score Top Affiliating Genes
1 childhood ataxia with central nervous system hypomyelination / vanishing white matter 32.9 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
2 leukoencephalopathy, progressive, with ovarian failure 31.9 POLR1C AARS2
3 leukodystrophy 30.6 POLR1C EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
4 cutaneous lupus erythematosus 11.5
5 emphysema, congenital lobar 11.3
6 lupus erythematosus tumidus 10.9
7 spasticity 10.5
8 ataxia and polyneuropathy, adult-onset 10.5
9 autosomal recessive disease 10.4
10 combined saposin deficiency 10.3 EIF5AL1 EIF2B4 EIF2B3 EIF2B2
11 leukoencephalopathy, hereditary diffuse, with spheroids 10.3 EIF2B5 EIF2B4 EIF2B3 AARS2
12 ocular motor apraxia 10.3
13 spastic ataxia 4 10.3 EIF2B2 EIF2B1
14 cerebral degeneration 10.3 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1 AARS2
15 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.3 PPP1R15B EIF2S1 ATF4
16 multiple sclerosis 10.3
17 neuropathy 10.3
18 mehmo syndrome 10.3 PPP1R15B EIF2S3 EIF2S2 EIF2B5 EIF2B4 EIF2B3
19 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.3
20 prion disease 10.3
21 premature menopause 10.3
22 glycogen storage disease xv 10.2 EIF2B4 EIF2B3
23 optic nerve disease 10.2
24 peripheral nervous system disease 10.2
25 3-methylglutaconic aciduria, type iii 10.2
26 glycine encephalopathy 10.2
27 dementia 10.2
28 spinal cord disease 10.2
29 head injury 10.2
30 hypotonia 10.2
31 tremor 10.2
32 combined oxidative phosphorylation deficiency 8 10.1 POLR1C AARS2
33 biotinidase deficiency 10.1
34 adrenoleukodystrophy 10.1
35 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 10.1
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 arrhythmogenic right ventricular cardiomyopathy 10.1
38 brugada syndrome 10.1
39 primary progressive multiple sclerosis 10.1
40 multifocal dystonia 10.1
41 aphasia 10.1
42 ptosis 10.1
43 hemiplegia 10.1
44 oligohydramnios 10.1
45 hypothyroidism 10.1
46 thrombocytopenia 10.1
47 hyperinsulinism 10.1
48 movement disease 10.1
49 infertility 10.1
50 schizoaffective disorder 10.1

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 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain imaging abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0410263
2 dysmyelinating leukodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006978
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 premature ovarian insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008209
6 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
7 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
8 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
9 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
10 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
11 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
12 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
13 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
14 macrocephaly 31 frequent (33%) HP:0000256
15 seizure 31 frequent (33%) HP:0001250
16 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
17 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
18 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
19 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
20 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
21 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
22 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
23 primary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000786
24 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
25 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
26 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
27 dysmetria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001310
28 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
29 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
30 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
31 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
32 encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001298
33 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
34 gonadal dysgenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000133
35 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
36 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
37 spastic diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001264
38 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
39 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
40 optic neuritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100653
41 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
42 nonketotic hyperglycinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008288
43 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
44 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
45 abnormality of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0007361
46 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
47 t2 hypointense thalamus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012690
48 dysgyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0032398
49 progressive macrocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0004481
50 spasticity 58 31 Frequent (79-30%) HP:0001257

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
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 20-May-2021)

UMLS symptoms related to Leukoencephalopathy with Vanishing White Matter:


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

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

26 (show all 49)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 10.67 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
2 Decreased NANOG protein expression GR00184-A-6 10.67 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
3 Decreased NANOG protein expression GR00184-A-8 10.67 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
4 Decreased OCT4 protein expression GR00184-A-2 10.61 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
5 Decreased OCT4 protein expression GR00184-A-5 10.61 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
6 Decreased OCT4 protein expression GR00184-A-7 10.61 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.4 EIF2B2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.4 EIF2B1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.4 EIF2B2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.4 PPP1R15B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.4 ATF4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.4 EIF2B4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.4 EIF2B2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.4 EIF2B2 EIF2B3 EIF2B5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.4 EIF2B1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.4 EIF2B5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.4 PPP1R15B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.4 PPP1R15B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.4 EIF2B5 EIF2B1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.4 EIF2B5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.4 EIF2B4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.4 EIF2B1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.4 EIF2B1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-175 10.4 EIF5AL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.4 EIF2B1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.4 EIF2B4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.4 EIF2B4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-187 10.4 EIF5AL1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.4 EIF5AL1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.4 ATF4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.4 EIF2B2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.4 EIF2B2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.4 EIF2B3
34 Increased shRNA abundance (Z-score > 2) GR00366-A-28 10.4 PPP1R15B
35 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.4 EIF5AL1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.4 EIF2B5
37 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.4 EIF2B1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.4 EIF2B2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.4 PPP1R15B
40 Increased shRNA abundance (Z-score > 2) GR00366-A-71 10.4 PPP1R15B
41 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.4 ATF4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.4 EIF2B2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.4 PPP1R15B
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.4 EIF2B4
45 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.4 PPP1R15B
46 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.4 EIF2B1
47 Decreased POU5F1-GFP protein expression GR00184-A-1 10.18 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2 PPP1R15B
48 Decreased POU5F1-GFP protein expression GR00184-A-4 10.18 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
49 Reduced mammosphere formation GR00396-S 9.23 EIF2B1 EIF2B2 EIF2B4 EIF2B5 EIF2S1 EIF2S2

Drugs & Therapeutics for Leukoencephalopathy with Vanishing White Matter

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tocilizumab: A Therapeutic Cache Against the Treatment of Severe Cases of COVID-19 Recruiting NCT04560205 Phase 1 Tocilizumab
2 Addressing Depression and Anxiety Symptoms in Patients With Inflammatory Bowel Disease (ADAPT-IBD) Unknown status NCT03327038
3 Improving Outcomes Among Urgent Care Clinic Patients With Inflammatory Bowel Disease (URGENT-IBD) Unknown status NCT03239704
4 Counseling to Optimize Medication Adherence in Expectant Mothers With Inflammatory Bowel Disease (COACH-IBD) Unknown status NCT03091309
5 Prevention of Readmissions at Inflammatory Bowel Disease Centres of Excellence Not yet recruiting NCT02931799

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 Leukoencephalopathy with Vanishing White Matter 29 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 Ovarioleukodystrophy 29

Anatomical Context for Leukoencephalopathy with Vanishing White Matter

MalaCards organs/tissues related to Leukoencephalopathy with Vanishing White Matter:

40
Spinal Cord, Thalamus, Pons, Brain, Cortex

Publications for Leukoencephalopathy with Vanishing White Matter

Articles related to Leukoencephalopathy with Vanishing White Matter:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. 6 57 54 61
15054402 2004
2
Identification of ten novel mutations in patients with eIF2B-related disorders. 6 57 61
15776425 2005
3
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. 61 6 57
15136690 2004
4
Leukoencephalopathy with vanishing white matter:: an adult onset case. 6 61 57
14694060 2003
5
eIF2B-related disorders: antenatal onset and involvement of multiple organs. 6 57 61
14566705 2003
6
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. 6 57 61
12325082 2002
7
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 61 6 57
11835386 2002
8
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 6 61 57
11704758 2001
9
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 6 57
21484434 2011
10
Genotype-phenotype correlation in vanishing white matter disease. 57 6
20975056 2010
11
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 57 6
19158808 2009
12
Genetic and clinical heterogeneity in eIF2B-related disorder. 6 57
18263758 2008
13
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. 6 57
17646634 2007
14
EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. 57 6
15723074 2005
15
The effect of genotype on the natural history of eIF2B-related leukodystrophies. 6 57
15136673 2004
16
Ovarian failure related to eukaryotic initiation factor 2B mutations. 57 6
12707859 2003
17
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease. 6 61
26285592 2015
18
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. 61 6
25761052 2015
19
Vanishing white matter disease: a review with focus on its genetics. 6 61
16807905 2006
20
Fright is a provoking factor in vanishing white matter disease. 61 57
15786451 2005
21
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. 6 61
15060152 2004
22
Cree leukoencephalopathy: neuroimaging findings. 57 61
10551219 1999
23
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. 57 61
10441579 1999
24
Phenotypic variation in leukoencephalopathy with vanishing white matter. 61 57
9710032 1998
25
A new leukoencephalopathy with vanishing white matter. 61 57
9109866 1997
26
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 6
30266093 2018
27
EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response. 6
29632131 2018
28
Whole exome sequencing in patients with white matter abnormalities. 6
27159321 2016
29
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. 6
25843247 2015
30
Vanishing white matter disease in French-Canadian patients from Quebec. 6
25079571 2014
31
Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature. 6
24938145 2014
32
Novel (ovario) leukodystrophy related to AARS2 mutations. 6
24808023 2014
33
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study. 6
22128017 2012
34
Characteristics of early MRI in children and adolescents with vanishing white matter. 6
22430157 2012
35
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations. 6
22952606 2012
36
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. 6
21560189 2011
37
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. 6
22699478 2011
38
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients. 6
20958979 2010
39
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. 57
19625339 2009
40
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. 57
16864840 2006
41
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. 6
16041584 2005
42
Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. 6
15136689 2004
43
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. 6
12499492 2002
44
Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis. 57
12453083 2002
45
"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype. 57
12075484 2002
46
Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. 57
10334484 1999
47
Leukodystrophy in patients with ovarian dysgenesis. 57
9153528 1997
48
Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. 57
7644053 1995
49
Childhood ataxia with diffuse central nervous system hypomyelination. 57
8122885 1994
50
Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. 57
8309512 1993

Variations for Leukoencephalopathy with Vanishing White Matter

ClinVar genetic disease variations for Leukoencephalopathy with Vanishing White Matter:

6 (show top 50) (show all 319)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF2B5 NM_003907.3(EIF2B5):c.1882T>C (p.Trp628Arg) SNV Pathogenic 5943 rs28937596 GRCh37: 3:183861899-183861899
GRCh38: 3:184144111-184144111
2 EIF2B5 NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val) SNV Pathogenic 5944 rs113994074 GRCh37: 3:183859713-183859713
GRCh38: 3:184141925-184141925
3 EIF2B5 NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) SNV Pathogenic 5946 rs113994054 GRCh37: 3:183855763-183855763
GRCh38: 3:184137975-184137975
4 EIF2B5 NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu) SNV Pathogenic 5947 rs113994061 GRCh37: 3:183858287-183858287
GRCh38: 3:184140499-184140499
5 EIF2B5 NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys) SNV Pathogenic 5948 rs113994055 GRCh37: 3:183855762-183855762
GRCh38: 3:184137974-184137974
6 EIF2B5 NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) SNV Pathogenic 5949 rs113994053 GRCh37: 3:183855724-183855724
GRCh38: 3:184137936-184137936
7 EIF2B5 NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) SNV Pathogenic 5950 rs113994064 GRCh37: 3:183858306-183858306
GRCh38: 3:184140518-184140518
8 EIF2B5 NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val) SNV Pathogenic 5951 rs113994043 GRCh37: 3:183853339-183853339
GRCh38: 3:184135551-184135551
9 EIF2B5 NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys) SNV Pathogenic 5952 rs121908541 GRCh37: 3:183853340-183853340
GRCh38: 3:184135552-184135552
10 EIF2B5 NM_003907.3(EIF2B5):c.808G>C (p.Asp270His) SNV Pathogenic 40178 rs397514646 GRCh37: 3:183857910-183857910
GRCh38: 3:184140122-184140122
11 EIF2B3 NM_020365.5(EIF2B3):c.80T>A (p.Leu27Gln) SNV Pathogenic 40179 rs397514647 GRCh37: 1:45446761-45446761
GRCh38: 1:44981089-44981089
12 EIF2B2 NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu) SNV Pathogenic 40180 rs397514648 GRCh37: 14:75470068-75470068
GRCh38: 14:75003365-75003365
13 POLR1C , AARS2 NM_020745.4(AARS2):c.149T>G (p.Phe50Cys) SNV Pathogenic 143045 rs587777590 GRCh37: 6:44280912-44280912
GRCh38: 6:44313175-44313175
14 POLR1C , AARS2 NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) SNV Pathogenic 143046 rs587777591 GRCh37: 6:44272809-44272809
GRCh38: 6:44305072-44305072
15 POLR1C , AARS2 NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg) SNV Pathogenic 143047 rs543267101 GRCh37: 6:44268349-44268349
GRCh38: 6:44300612-44300612
16 POLR1C , AARS2 NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys) SNV Pathogenic 143048 rs587777592 GRCh37: 6:44274104-44274104
GRCh38: 6:44306367-44306367
17 EIF2B1 NM_001414.4(EIF2B1):c.622A>T (p.Asn208Tyr) SNV Pathogenic 4124 rs113994007 GRCh37: 12:124109339-124109339
GRCh38: 12:123624792-123624792
18 EIF2B2 NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) SNV Pathogenic 4336 rs104894425 GRCh37: 14:75472609-75472609
GRCh38: 14:75005906-75005906
19 EIF2B2 NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) SNV Pathogenic 4336 rs104894425 GRCh37: 14:75472609-75472609
GRCh38: 14:75005906-75005906
20 EIF2B2 NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp) SNV Pathogenic 4337 rs104894426 GRCh37: 14:75475782-75475782
GRCh38: 14:75009079-75009079
21 EIF2B2 NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter) SNV Pathogenic 4338 rs104894427 GRCh37: 14:75471553-75471553
GRCh38: 14:75004850-75004850
22 EIF2B2 NM_014239.4(EIF2B2):c.512C>T (p.Ser171Phe) SNV Pathogenic 4339 rs104894428 GRCh37: 14:75471518-75471518
GRCh38: 14:75004815-75004815
23 EIF2B2 NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs) Indel Pathogenic 4340 rs113994014 GRCh37: 14:75472578-75472583
GRCh38: 14:75005875-75005880
24 EIF2B3 NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln) SNV Pathogenic 4437 rs113994024 GRCh37: 1:45347394-45347394
GRCh38: 1:44881722-44881722
25 EIF2B3 EIF2B3, 2-BP DEL, 1295TG Deletion Pathogenic 4438 GRCh37:
GRCh38:
26 EIF2B3 NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr) SNV Pathogenic 4440 rs119474039 GRCh37: 1:45341306-45341306
GRCh38: 1:44875634-44875634
27 EIF2B4 NM_015636.3(EIF2B4):c.1117C>T (p.Arg373Cys) SNV Pathogenic 4118 rs113994035 GRCh37: 2:27589697-27589697
GRCh38: 2:27366830-27366830
28 EIF2B4 NM_015636.3(EIF2B4):c.1188+1G>A SNV Pathogenic 4119 rs113994037 GRCh37: 2:27589625-27589625
GRCh38: 2:27366758-27366758
29 EIF2B4 NM_015636.3(EIF2B4):c.680C>T (p.Ala227Val) SNV Pathogenic 4120 rs113994027 GRCh37: 2:27590914-27590914
GRCh38: 2:27368047-27368047
30 EIF2B4 NM_015636.3(EIF2B4):c.1390T>C (p.Cys464Arg) SNV Pathogenic 4121 rs113994038 GRCh37: 2:27587446-27587446
GRCh38: 2:27364579-27364579
31 EIF2B4 NM_015636.3(EIF2B4):c.1462T>C (p.Tyr488His) SNV Pathogenic 4122 rs113994040 GRCh37: 2:27587374-27587374
GRCh38: 2:27364507-27364507
32 EIF2B1 NM_001414.4(EIF2B1):c.610_612GGA[1] (p.Gly205del) Microsatellite Pathogenic 217280 rs863225051 GRCh37: 12:124109346-124109348
GRCh38: 12:123624799-123624801
33 EIF2B1 NM_001414.4(EIF2B1):c.833C>G (p.Pro278Arg) SNV Pathogenic 217278 rs863225049 GRCh37: 12:124106388-124106388
GRCh38: 12:123621841-123621841
34 EIF2B1 NM_001414.4(EIF2B1):c.715T>G (p.Phe239Val) SNV Pathogenic 217282 rs863225052 GRCh37: 12:124107221-124107221
GRCh38: 12:123622674-123622674
35 EIF2B1 NM_001414.4(EIF2B1):c.328A>G (p.Lys110Glu) SNV Pathogenic 217279 rs863225050 GRCh37: 12:124114757-124114757
GRCh38: 12:123630210-123630210
36 EIF2B1 NM_001414.4(EIF2B1):c.547G>T (p.Val183Phe) SNV Pathogenic 217277 rs863225048 GRCh37: 12:124110976-124110976
GRCh38: 12:123626429-123626429
37 EIF2B2 NM_014239.4(EIF2B2):c.922G>A (p.Val308Met) SNV Pathogenic 522641 rs372548739 GRCh37: 14:75475757-75475757
GRCh38: 14:75009054-75009054
38 EIF2B2 NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs) Indel Pathogenic 4340 rs113994014 GRCh37: 14:75472578-75472583
GRCh38: 14:75005875-75005880
39 EIF2B5 NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys) SNV Pathogenic 692118 rs113994050 GRCh37: 3:183855424-183855424
GRCh38: 3:184137636-184137636
40 EIF2B5 NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) SNV Pathogenic 666195 rs113994068 GRCh37: 3:183858377-183858377
GRCh38: 3:184140589-184140589
41 EIF2B5 NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln) SNV Pathogenic 381579 rs113994069 GRCh37: 3:183858378-183858378
GRCh38: 3:184140590-184140590
42 EIF2B5 NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) SNV Pathogenic 692119 rs113994069 GRCh37: 3:183858378-183858378
GRCh38: 3:184140590-184140590
43 EIF2B5 NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) SNV Pathogenic 813359 rs113994080 GRCh37: 3:183860062-183860062
GRCh38: 3:184142274-184142274
44 EIF2B5 NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) SNV Pathogenic 802032 rs958193703 GRCh37: 3:183855494-183855494
GRCh38: 3:184137706-184137706
45 EIF2B5 NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser) SNV Pathogenic 932170 GRCh37: 3:183862398-183862398
GRCh38: 3:184144610-184144610
46 POLR1C , AARS2 NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter) SNV Pathogenic 982774 GRCh37: 6:44272054-44272054
GRCh38: 6:44304317-44304317
47 EIF2B2 NM_014239.4(EIF2B2):c.42del (p.Ile15fs) Deletion Pathogenic 984939 GRCh37: 14:75469734-75469734
GRCh38: 14:75003031-75003031
48 ANKLE2 NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) SNV Pathogenic 930179 GRCh37: 12:133310992-133310992
GRCh38: 12:132734406-132734406
49 EIF2B5 NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter) SNV Pathogenic 1028674 GRCh37: 3:183860330-183860330
GRCh38: 3:184142542-184142542
50 EIF2B2 NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter) SNV Pathogenic 1030309 GRCh37: 14:75469787-75469787
GRCh38: 14:75003084-75003084

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

72 (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 rs156010598
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 KEGG:

36
# Name Kegg Source Accession
1 RNA transport hsa03013

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
13.6 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
2
Show member pathways
13.58 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
3
Show member pathways
13.54 POLR1C EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5
4
Show member pathways
13.47 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
5
Show member pathways
12.97 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
6
Show member pathways
12.65 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1 ATF4
7
Show member pathways
12.59 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
8 12.58 EIF2S1 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
9
Show member pathways
12.49 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4 EIF2B3
10
Show member pathways
12.16 EIF5 EIF2S3 EIF2S2 EIF2S1
11 11.88 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
12
Show member pathways
11.06 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4

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 cytoplasm GO:0005737 10.1 EIF5AL1 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5
2 cytosol GO:0005829 9.97 POLR1C EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5
3 eukaryotic translation initiation factor 2 complex GO:0005850 9.13 EIF2S3 EIF2S2 EIF2S1
4 eukaryotic translation initiation factor 2B complex GO:0005851 9.1 EIF2S1 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.95 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1 ARHGEF6
2 T cell receptor signaling pathway GO:0050852 9.88 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
3 response to endoplasmic reticulum stress GO:0034976 9.8 PPP1R15B EIF2S1 EIF2B5 ATF4
4 response to glucose GO:0009749 9.77 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
5 regulation of translation GO:0006417 9.76 PPP1R15B EIF2S1 EIF2B4
6 myelination GO:0042552 9.73 EIF2B5 EIF2B4 EIF2B2
7 response to peptide hormone GO:0043434 9.72 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
8 ovarian follicle development GO:0001541 9.71 EIF2B5 EIF2B4 EIF2B2
9 regulation of translational initiation GO:0006446 9.69 EIF5 EIF2B2 EIF2B1
10 response to heat GO:0009408 9.65 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
11 cellular metabolic process GO:0044237 9.63 EIF2B4 EIF2B2 EIF2B1
12 formation of translation preinitiation complex GO:0001731 9.61 EIF5 EIF2S3 EIF2S2
13 translational initiation GO:0006413 9.61 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4
14 formation of cytoplasmic translation initiation complex GO:0001732 9.58 EIF5 EIF2S2
15 PERK-mediated unfolded protein response GO:0036499 9.57 EIF2S1 ATF4
16 negative regulation of translational initiation in response to stress GO:0032057 9.55 EIF2S1 ATF4
17 oligodendrocyte development GO:0014003 9.55 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1
18 response to manganese-induced endoplasmic reticulum stress GO:1990737 9.52 EIF2S1 ATF4
19 translation GO:0006412 9.36 EIF5AL1 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5

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

# Name GO ID Score Top Affiliating Genes
1 translation initiation factor binding GO:0031369 9.43 EIF2S2 EIF2B5 EIF2B4
2 guanyl-nucleotide exchange factor activity GO:0005085 9.43 EIF2B5 EIF2B4 EIF2B3 EIF2B2 EIF2B1 ARHGEF6
3 acyl-CoA hydrolase activity GO:0047617 9.4 ACOT12 ACOT11
4 thiolester hydrolase activity GO:0016790 9.37 ACOT12 ACOT11
5 translation factor activity, RNA binding GO:0008135 9.33 EIF2S3 EIF2S2 EIF2B3
6 long-chain fatty acyl-CoA binding GO:0036042 9.32 ACOT12 ACOT11
7 translation initiation factor activity GO:0003743 9.28 EIF5 EIF2S3 EIF2S2 EIF2S1 EIF2B5 EIF2B4

Sources for Leukoencephalopathy with Vanishing White Matter

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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