MCID: LKN001
MIFTS: 56

Leukoencephalopathy with Vanishing White Matter

Categories: Genetic diseases, Rare diseases, Neuronal 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 53 25 59 75 37 29 13 6 15 40
Cree Leukoencephalopathy 57 12 25 59 75 55
Ovarioleukodystrophy 57 59 29 6 73
Vanishing White Matter Leukodystrophy 57 12 53 25
Vanishing White Matter Disease 53 25 75 73
Childhood Ataxia with Central Nervous System Hypomyelinization 57 75 73
Myelinosis Centralis Diffusa 53 25 59
Cach Syndrome 53 25 59
Cach 57 12 75
Cle 57 12 75
Childhood Ataxia with Diffuse Central Nervous System Hypomyelination 53 59
Childhood Ataxia with Central Nervous System Hypomyelination 12 25
Vwm 57 75
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 53
Childhood Ataxia with Central Nervous System Hypomyelinization; Cach 57
Congenital or Early Infantile Cach Syndrome 59
Leukodystrophy with Vanishing White Matter 75
Juvenile or Adult Cach Syndrome 59
Cree Leukoencephalopathy; Cle 57
Late Infantile Cach Syndrome 59
Cree Leukoencehalopathy 53
Cach/vwm Syndrome 53
Cach/vwm 53

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
leukoencephalopathy with vanishing white matter:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Leukoencephalopathy with Vanishing White Matter

NIH Rare Diseases : 53 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); andĀ 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.

MalaCards based summary : Leukoencephalopathy with Vanishing White Matter, also known as cree leukoencephalopathy, is related to leukodystrophy and childhood ataxia with central nervous system hypomyelination/vanishing white matter, and has symptoms including lethargy, muscle spasticity 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 RNA transport and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are macrocephaly and emotional lability

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

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 19)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 32.2 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 childhood ataxia with central nervous system hypomyelination/vanishing white matter 11.4
3 emphysema, congenital lobar 11.2
4 lupus erythematosus tumidus 11.0
5 barrett esophagus 10.9
6 cutaneous lupus erythematosus 10.3
7 lupus erythematosus 10.3
8 early-onset familial alzheimer disease 10.2 EIF2B2 MLH3
9 dementia 10.1
10 cerebral degeneration 10.1 EIF2B1 EIF2B2 EIF2B5 MLC1
11 pemphigus vulgaris, familial 9.8
12 pemphigus vulgaris 9.8
13 dermatomyositis 9.8
14 diphtheria 9.8
15 transitional cell carcinoma 9.8
16 bullous pemphigoid 9.8
17 herpes zoster 9.8
18 pemphigus 9.8
19 depression 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
personality changes
delusions
indifference
psychiatric manifestations more common with adult-onset of disease

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 Central Nervous System:
seizures
spasticity
dysarthria
lethargy
unsteady gait
more
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

Human phenotypes related to Leukoencephalopathy with Vanishing White Matter:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 frequent (33%) HP:0000256
2 emotional lability 32 HP:0000712
3 seizures 32 HP:0001250
4 muscular hypotonia 32 HP:0001252
5 spasticity 32 HP:0001257
6 dysarthria 32 HP:0001260
7 gait disturbance 32 HP:0001288
8 developmental regression 32 HP:0002376
9 optic atrophy 32 HP:0000648
10 blindness 32 occasional (7.5%) HP:0000618
11 premature ovarian insufficiency 32 HP:0008209
12 secondary amenorrhea 32 HP:0000869
13 memory impairment 32 HP:0002354
14 lethargy 32 HP:0001254
15 personality changes 32 HP:0000751
16 primary gonadal insufficiency 32 HP:0008193
17 generalized hypotonia 32 HP:0001290
18 unsteady gait 32 HP:0002317
19 delusions 32 HP:0000746
20 cerebral hypomyelination 32 HP:0006808
21 leukoencephalopathy 32 HP:0002352
22 cns demyelination 32 HP:0007305
23 cessation of head growth 32 HP:0004485
24 decreased circulating progesterone 32 HP:0008233

UMLS symptoms related to Leukoencephalopathy with Vanishing White Matter:


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

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

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 10.67 EIF2S2 EIF2B3 EIF2B4 EIF2B1 EIF2B2
2 Decreased NANOG protein expression GR00184-A-6 10.67 EIF2S2 EIF2B3 EIF2B4 EIF2B1 EIF2B2
3 Decreased NANOG protein expression GR00184-A-8 10.67 EIF2B4 EIF2S2 EIF2B2 EIF2B3 EIF2B1
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 EIF2B2 EIF2B3 EIF2B4 EIF2S2 EIF2B1
7 Decreased POU5F1-GFP protein expression GR00184-A-1 10.18 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2 GTF2H3
8 Decreased POU5F1-GFP protein expression GR00184-A-4 10.18 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.03 ATF4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.03 ATF4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.03 EIF2B2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.03 ATF4 EIF2B2 EIF2B3 EIF2B5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.03 EIF2B5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.03 EIF2B2 EIF2B5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.03 EIF2B5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.03 EIF2B5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.03 ATF4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.03 ATF4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.03 EIF2B2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.03 EIF2B3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.03 EIF2B5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.03 EIF2B2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.03 EIF2B2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.03 EIF2B2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.03 ATF4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.03 ATF4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.03 ATF4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.03 EIF2B2
29 Reduced mammosphere formation GR00396-S 9.23 EIF2B1 GTF2H3 EIF2B2 EIF2B4 EIF2B5 EIF2S1

Drugs & Therapeutics for Leukoencephalopathy with Vanishing White Matter

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

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:

41
Brain, Spinal Cord, Cortex

Publications for Leukoencephalopathy with Vanishing White Matter

Articles related to Leukoencephalopathy with Vanishing White Matter:

(show all 25)
# Title Authors Year
1
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. ( 25761052 )
2015
2
Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging. ( 21674432 )
2011
3
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. ( 21484434 )
2011
4
Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit. ( 20797884 )
2010
5
Leukoencephalopathy with vanishing white matter: a review. ( 20838246 )
2010
6
Leukoencephalopathy with vanishing white matter presenting with presenile dementia. ( 19531691 )
2009
7
[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter]. ( 19829687 )
2009
8
Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter. ( 17119336 )
2007
9
[Leukoencephalopathy with vanishing white matter: A case report]. ( 17072809 )
2006
10
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases. ( 16823698 )
2006
11
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. ( 15136690 )
2004
12
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. ( 15060152 )
2004
13
Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter. ( 14745082 )
2004
14
Leukoencephalopathy with vanishing white matter:: an adult onset case. ( 14694060 )
2003
15
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. ( 14572143 )
2003
16
Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families. ( 12015169 )
2002
17
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. ( 11835386 )
2002
18
Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia. ( 11706974 )
2001
19
A Japanese girl with leukoencephalopathy with vanishing white matter. ( 11226733 )
2001
20
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. ( 11704758 )
2001
21
A case of leukoencephalopathy with vanishing white matter. ( 10832586 )
2000
22
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. ( 10441579 )
1999
23
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. ( 10593550 )
1999
24
Phenotypic variation in leukoencephalopathy with vanishing white matter. ( 10522915 )
1999
25
Phenotypic variation in leukoencephalopathy with vanishing white matter. ( 9710032 )
1998

Variations for Leukoencephalopathy with Vanishing White Matter

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

75 (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
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

ClinVar genetic disease variations for Leukoencephalopathy with Vanishing White Matter:

6
(show top 50) (show all 291)
# Gene Variation Type Significance SNP ID Assembly Location
1 EIF2B4 NM_001034116.1(EIF2B4): c.1070G> A (p.Arg357Gln) single nucleotide variant Pathogenic rs113994033 GRCh37 Chromosome 2, 27589747: 27589747
2 EIF2B4 NM_001034116.1(EIF2B4): c.1070G> A (p.Arg357Gln) single nucleotide variant Pathogenic rs113994033 GRCh38 Chromosome 2, 27366880: 27366880
3 EIF2B4 NM_001034116.1(EIF2B4): c.1120C> T (p.Arg374Cys) single nucleotide variant Pathogenic rs113994035 GRCh37 Chromosome 2, 27589697: 27589697
4 EIF2B4 NM_001034116.1(EIF2B4): c.1120C> T (p.Arg374Cys) single nucleotide variant Pathogenic rs113994035 GRCh38 Chromosome 2, 27366830: 27366830
5 EIF2B4 NM_001034116.1(EIF2B4): c.1191+1G> A single nucleotide variant Pathogenic rs113994037 GRCh37 Chromosome 2, 27589625: 27589625
6 EIF2B4 NM_001034116.1(EIF2B4): c.1191+1G> A single nucleotide variant Pathogenic rs113994037 GRCh38 Chromosome 2, 27366758: 27366758
7 EIF2B4 NM_001034116.1(EIF2B4): c.683C> T (p.Ala228Val) single nucleotide variant Pathogenic rs113994027 GRCh37 Chromosome 2, 27590914: 27590914
8 EIF2B4 NM_001034116.1(EIF2B4): c.683C> T (p.Ala228Val) single nucleotide variant Pathogenic rs113994027 GRCh38 Chromosome 2, 27368047: 27368047
9 EIF2B4 NM_001034116.1(EIF2B4): c.1393T> C (p.Cys465Arg) single nucleotide variant Pathogenic rs113994038 GRCh37 Chromosome 2, 27587446: 27587446
10 EIF2B4 NM_001034116.1(EIF2B4): c.1393T> C (p.Cys465Arg) single nucleotide variant Pathogenic rs113994038 GRCh38 Chromosome 2, 27364579: 27364579
11 EIF2B4 NM_001034116.1(EIF2B4): c.1465T> C (p.Tyr489His) single nucleotide variant Pathogenic rs113994040 GRCh37 Chromosome 2, 27587374: 27587374
12 EIF2B4 NM_001034116.1(EIF2B4): c.1465T> C (p.Tyr489His) single nucleotide variant Pathogenic rs113994040 GRCh38 Chromosome 2, 27364507: 27364507
13 EIF2B1 NM_001414.3(EIF2B1): c.622A> T (p.Asn208Tyr) single nucleotide variant Pathogenic rs113994007 GRCh37 Chromosome 12, 124109339: 124109339
14 EIF2B1 NM_001414.3(EIF2B1): c.622A> T (p.Asn208Tyr) single nucleotide variant Pathogenic rs113994007 GRCh38 Chromosome 12, 123624792: 123624792
15 EIF2B2 NM_014239.3(EIF2B2): c.638A> G (p.Glu213Gly) single nucleotide variant Pathogenic rs104894425 GRCh37 Chromosome 14, 75472609: 75472609
16 EIF2B2 NM_014239.3(EIF2B2): c.638A> G (p.Glu213Gly) single nucleotide variant Pathogenic rs104894425 GRCh38 Chromosome 14, 75005906: 75005906
17 EIF2B2 NM_014239.3(EIF2B2): c.947T> A (p.Val316Asp) single nucleotide variant Pathogenic rs104894426 GRCh37 Chromosome 14, 75475782: 75475782
18 EIF2B2 NM_014239.3(EIF2B2): c.947T> A (p.Val316Asp) single nucleotide variant Pathogenic rs104894426 GRCh38 Chromosome 14, 75009079: 75009079
19 EIF2B2 NM_014239.3(EIF2B2): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs104894427 GRCh37 Chromosome 14, 75471553: 75471553
20 EIF2B2 NM_014239.3(EIF2B2): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs104894427 GRCh38 Chromosome 14, 75004850: 75004850
21 EIF2B2 NM_014239.3(EIF2B2): c.512C> T (p.Ser171Phe) single nucleotide variant Pathogenic rs104894428 GRCh37 Chromosome 14, 75471518: 75471518
22 EIF2B2 NM_014239.3(EIF2B2): c.512C> T (p.Ser171Phe) single nucleotide variant Pathogenic rs104894428 GRCh38 Chromosome 14, 75004815: 75004815
23 EIF2B2 NM_014239.3(EIF2B2): c.607_612delATGGCTinsTG (p.Met203Trpfs) indel Pathogenic rs113994014 GRCh37 Chromosome 14, 75472578: 75472583
24 EIF2B2 NM_014239.3(EIF2B2): c.607_612delATGGCTinsTG (p.Met203Trpfs) indel Pathogenic rs113994014 GRCh38 Chromosome 14, 75005875: 75005880
25 EIF2B3 NM_020365.4(EIF2B3): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs113994024 GRCh37 Chromosome 1, 45347394: 45347394
26 EIF2B3 NM_020365.4(EIF2B3): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs113994024 GRCh38 Chromosome 1, 44881722: 44881722
27 EIF2B3 EIF2B3, 2-BP DEL, 1295TG deletion Pathogenic
28 EIF2B3 NM_020365.4(EIF2B3): c.260C> T (p.Ala87Val) single nucleotide variant Pathogenic rs113994022 GRCh37 Chromosome 1, 45444021: 45444021
29 EIF2B3 NM_020365.4(EIF2B3): c.260C> T (p.Ala87Val) single nucleotide variant Pathogenic rs113994022 GRCh38 Chromosome 1, 44978349: 44978349
30 EIF2B3 NM_020365.4(EIF2B3): c.1037T> C (p.Ile346Thr) single nucleotide variant Pathogenic rs119474039 GRCh37 Chromosome 1, 45341306: 45341306
31 EIF2B3 NM_020365.4(EIF2B3): c.1037T> C (p.Ile346Thr) single nucleotide variant Pathogenic rs119474039 GRCh38 Chromosome 1, 44875634: 44875634
32 EIF2B5 NM_003907.2(EIF2B5): c.271A> G (p.Thr91Ala) single nucleotide variant Pathogenic rs28939717 GRCh37 Chromosome 3, 183854475: 183854475
33 EIF2B5 NM_003907.2(EIF2B5): c.271A> G (p.Thr91Ala) single nucleotide variant Pathogenic rs28939717 GRCh38 Chromosome 3, 184136687: 184136687
34 EIF2B5 NM_003907.2(EIF2B5): c.1882T> C (p.Trp628Arg) single nucleotide variant Pathogenic rs28937596 GRCh37 Chromosome 3, 183861899: 183861899
35 EIF2B5 NM_003907.2(EIF2B5): c.1882T> C (p.Trp628Arg) single nucleotide variant Pathogenic rs28937596 GRCh38 Chromosome 3, 184144111: 184144111
36 EIF2B5 NM_003907.2(EIF2B5): c.1157G> T (p.Gly386Val) single nucleotide variant Pathogenic rs113994074 GRCh37 Chromosome 3, 183859713: 183859713
37 EIF2B5 NM_003907.2(EIF2B5): c.1157G> T (p.Gly386Val) single nucleotide variant Pathogenic rs113994074 GRCh38 Chromosome 3, 184141925: 184141925
38 EIF2B5 NM_003907.2(EIF2B5): c.338G> A (p.Arg113His) single nucleotide variant Pathogenic rs113994049 GRCh37 Chromosome 3, 183855425: 183855425
39 EIF2B5 NM_003907.2(EIF2B5): c.338G> A (p.Arg113His) single nucleotide variant Pathogenic rs113994049 GRCh38 Chromosome 3, 184137637: 184137637
40 EIF2B5 NM_003907.2(EIF2B5): c.584G> A (p.Arg195His) single nucleotide variant Pathogenic rs113994054 GRCh37 Chromosome 3, 183855763: 183855763
41 EIF2B5 NM_003907.2(EIF2B5): c.584G> A (p.Arg195His) single nucleotide variant Pathogenic rs113994054 GRCh38 Chromosome 3, 184137975: 184137975
42 EIF2B5 NM_003907.2(EIF2B5): c.925G> C (p.Val309Leu) single nucleotide variant Pathogenic rs113994061 GRCh37 Chromosome 3, 183858287: 183858287
43 EIF2B5 NM_003907.2(EIF2B5): c.925G> C (p.Val309Leu) single nucleotide variant Pathogenic rs113994061 GRCh38 Chromosome 3, 184140499: 184140499
44 EIF2B5 NM_003907.2(EIF2B5): c.583C> T (p.Arg195Cys) single nucleotide variant Pathogenic rs113994055 GRCh37 Chromosome 3, 183855762: 183855762
45 EIF2B5 NM_003907.2(EIF2B5): c.583C> T (p.Arg195Cys) single nucleotide variant Pathogenic rs113994055 GRCh38 Chromosome 3, 184137974: 184137974
46 EIF2B5 NM_003907.2(EIF2B5): c.545C> T (p.Thr182Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994053 GRCh37 Chromosome 3, 183855724: 183855724
47 EIF2B5 NM_003907.2(EIF2B5): c.545C> T (p.Thr182Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994053 GRCh38 Chromosome 3, 184137936: 184137936
48 EIF2B5 NM_003907.2(EIF2B5): c.944G> A (p.Arg315His) single nucleotide variant Pathogenic rs113994064 GRCh37 Chromosome 3, 183858306: 183858306
49 EIF2B5 NM_003907.2(EIF2B5): c.944G> A (p.Arg315His) single nucleotide variant Pathogenic rs113994064 GRCh38 Chromosome 3, 184140518: 184140518
50 EIF2B5 NM_003907.2(EIF2B5): c.166T> G (p.Phe56Val) single nucleotide variant Pathogenic rs113994043 GRCh37 Chromosome 3, 183853339: 183853339

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:

37
# Name Kegg Source Accession
1 RNA transport hsa03013

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2
Show member pathways
13.54 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3
Show member pathways
13.45 AARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4
Show member pathways
12.96 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
5
Show member pathways
12.5 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
6
Show member pathways
12.47 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
7
Show member pathways
12.47 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
8 11.79 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
9
Show member pathways
11.02 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1

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 2B complex GO:0005851 9.1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
2 eukaryotic translation initiation factor 2 complex GO:0005850 8.96 EIF2S1 EIF2S2
3 cytoplasm GO:0005737 10.03 AARS2 ACOT12 ATF4 DDX55 EIF2B1 EIF2B2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of molecular function GO:0065009 9.88 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 T cell receptor signaling pathway GO:0050852 9.83 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 response to glucose GO:0009749 9.77 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 response to peptide hormone GO:0043434 9.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 response to endoplasmic reticulum stress GO:0034976 9.71 ATF4 EIF2B5 EIF2S1
6 myelination GO:0042552 9.7 EIF2B2 EIF2B4 EIF2B5
7 ovarian follicle development GO:0001541 9.67 EIF2B2 EIF2B4 EIF2B5
8 response to heat GO:0009408 9.65 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
9 cellular metabolic process GO:0044237 9.58 EIF2B1 EIF2B2 EIF2B4
10 regulation of translational initiation GO:0006446 9.56 EIF2B2 EIF5
11 translational initiation GO:0006413 9.56 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1
12 PERK-mediated unfolded protein response GO:0036499 9.55 ATF4 EIF2S1
13 oligodendrocyte development GO:0014003 9.55 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
14 negative regulation of translational initiation in response to stress GO:0032057 9.51 ATF4 EIF2S1
15 response to manganese-induced endoplasmic reticulum stress GO:1990737 9.46 ATF4 EIF2S1
16 translation GO:0006412 9.32 AARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

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 9.55 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 translation initiation factor binding GO:0031369 9.26 EIF2B4 EIF2B5
3 translation factor activity, RNA binding GO:0008135 9.26 EIF2B3 EIF2S2 EIF5 GTF2H3
4 translation initiation factor activity GO:0003743 9.23 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S1

Sources for Leukoencephalopathy with Vanishing White Matter

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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