VWM
MCID: LKN001
MIFTS: 57

Leukoencephalopathy with Vanishing White Matter (VWM)

Categories: Eye diseases, 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 58 12 54 26 60 76 38 30 13 6 15 41
Cree Leukoencephalopathy 58 12 26 60 76 56
Ovarioleukodystrophy 58 60 30 6 74
Vanishing White Matter Leukodystrophy 58 12 54 26
Vanishing White Matter Disease 54 26 76 74
Childhood Ataxia with Central Nervous System Hypomyelinization 58 76 74
Myelinosis Centralis Diffusa 54 26 60
Cach Syndrome 54 26 60
Cach 58 12 76
Childhood Ataxia with Diffuse Central Nervous System Hypomyelination 54 60
Childhood Ataxia with Central Nervous System Hypomyelination 12 26
Cle 58 76
Vwm 58 76
Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 54
Childhood Ataxia with Central Nervous System Hypomyelinization; Cach 58
Congenital or Early Infantile Cach Syndrome 60
Leukodystrophy with Vanishing White Matter 76
Juvenile or Adult Cach Syndrome 60
Cree Leukoencephalopathy; Cle 58
Late Infantile Cach Syndrome 60
Cree Leukoencehalopathy 54
Cach/vwm Syndrome 54
Cach/vwm 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
leukoencephalopathy with vanishing white matter:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Leukoencephalopathy with Vanishing White Matter

NIH Rare Diseases : 54 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 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 Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are macrocephaly and blindness

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 : 26 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 : 58 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 : 76 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 : 77 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 55)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 30.3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 childhood ataxia with central nervous system hypomyelination/vanishing white matter 11.9
3 emphysema, congenital lobar 11.4
4 lupus erythematosus tumidus 11.2
5 alzheimer disease 10.5
6 cutaneous lupus erythematosus 10.4
7 lupus erythematosus 10.4
8 dementia 10.3
9 neuropathy 10.2
10 xp22.3 microdeletion syndrome 10.2
11 epilepsy 10.2
12 aging 10.1
13 multiple sclerosis 10.1
14 optic nerve disease 10.1
15 pemphigus 10.1
16 herpes zoster 10.1
17 bullous pemphigoid 10.1
18 ichthyosis 10.1
19 dermatomyositis 10.1
20 pemphigus vulgaris 10.1
21 pemphigus vulgaris, familial 10.1
22 dural sinus malformation 10.1
23 smallpox 10.1
24 vascular dementia 10.1
25 meningoencephalitis 10.1
26 variola major 10.1
27 opsoclonus-myoclonus syndrome 10.0
28 myoclonus 10.0
29 tremor 10.0
30 hypopituitarism 10.0
31 peripheral nervous system disease 10.0
32 ptosis 10.0
33 primary progressive multiple sclerosis 10.0
34 premature ovarian failure 1 10.0
35 adrenoleukodystrophy 10.0
36 bowenoid papulosis 10.0
37 depression 10.0
38 transitional cell carcinoma 10.0
39 diphtheria 10.0
40 polycythemia vera 10.0
41 ichthyosis, congenital, autosomal recessive 4b 10.0
42 cerebral atrophy 9.9
43 encephalitis 9.9
44 meningitis 9.9
45 ovarian cyst 9.9
46 aseptic meningitis 9.9
47 st. louis encephalitis 9.9
48 mumps 9.9
49 alkuraya-kucinskas syndrome 9.9
50 neural tube defects, folate-sensitive 9.9

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:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 frequent (33%) HP:0000256
2 blindness 33 occasional (7.5%) HP:0000618
3 emotional lability 33 HP:0000712
4 seizures 33 HP:0001250
5 muscular hypotonia 33 HP:0001252
6 spasticity 33 HP:0001257
7 dysarthria 33 HP:0001260
8 gait disturbance 33 HP:0001288
9 developmental regression 33 HP:0002376
10 optic atrophy 33 HP:0000648
11 fever 33 HP:0001945
12 premature ovarian insufficiency 33 HP:0008209
13 primary amenorrhea 33 HP:0000786
14 secondary amenorrhea 33 HP:0000869
15 memory impairment 33 HP:0002354
16 lethargy 33 HP:0001254
17 generalized hypotonia 33 HP:0001290
18 personality changes 33 HP:0000751
19 primary gonadal insufficiency 33 HP:0008193
20 unsteady gait 33 HP:0002317
21 delusions 33 HP:0000746
22 gliosis 33 HP:0002171
23 cns demyelination 33 HP:0007305
24 cerebral hypomyelination 33 HP:0006808
25 leukoencephalopathy 33 HP:0002352
26 cessation of head growth 33 HP:0004485
27 decreased circulating progesterone 33 HP:0008233

Symptoms via clinical synopsis from OMIM:

58
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

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:

27 (show top 50) (show all 53)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 10.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
2 Decreased NANOG protein expression GR00184-A-6 10.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
3 Decreased NANOG protein expression GR00184-A-8 10.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
4 Decreased OCT4 protein expression GR00184-A-2 10.67 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
5 Decreased OCT4 protein expression GR00184-A-5 10.67 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
6 Decreased OCT4 protein expression GR00184-A-7 10.67 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.36 EIF2B2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.36 EIF2B2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.36 ATF4 EIF2B4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.36 EIF2B1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.36 NDUFS1 EIF2B1 EIF2B5
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.36 ATF4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.36 EIF2B4
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.36 EIF2B1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.36 EIF2B1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.36 ATF4
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.36 EIF2B4
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.36 EIF2B2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.36 ATF4 EIF2B3 NDUFS1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.36 NDUFS1 EIF2B1 EIF2B2 EIF2B4 EIF2B5
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.36 EIF2B5
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.36 NDUFS1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.36 ATF4
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.36 EIF2B5
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.36 EIF2B1
26 Decreased POU5F1-GFP protein expression GR00184-A-1 10.28 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2 GTF2H3
27 Decreased POU5F1-GFP protein expression GR00184-A-4 10.28 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.17 ATF4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.17 ATF4 NDUFS1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.17 NDUFS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.17 EIF2B2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.17 ATF4 EIF2B2 EIF2B3 EIF2B5 NDUFS1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.17 EIF2B5
34 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.17 NDUFS1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.17 EIF2B2 EIF2B5
36 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.17 EIF2B5
37 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.17 EIF2B5
38 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.17 NDUFS1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.17 NDUFS1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.17 ATF4 NDUFS1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.17 ATF4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.17 EIF2B2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.17 EIF2B3
44 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.17 EIF2B5
45 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.17 NDUFS1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.17 EIF2B2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.17 EIF2B2 NDUFS1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.17 EIF2B2
49 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.17 ATF4
50 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.17 ATF4

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 30 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 Ovarioleukodystrophy 30

Anatomical Context for Leukoencephalopathy with Vanishing White Matter

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

42
Brain, Spinal Cord, Cortex

Publications for Leukoencephalopathy with Vanishing White Matter

Articles related to Leukoencephalopathy with Vanishing White Matter:

(show all 29)
# Title Authors Year
1
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter. ( 30073106 )
2018
2
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. ( 25761052 )
2015
3
Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging. ( 21674432 )
2011
4
Neuroimaging and neurophysiology studies in carriers of cree leukoencephalopathy. ( 21320845 )
2011
5
Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit. ( 20797884 )
2010
6
Leukoencephalopathy with vanishing white matter: a review. ( 20838246 )
2010
7
Leukoencephalopathy with vanishing white matter presenting with presenile dementia. ( 19531691 )
2009
8
[Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter]. ( 19829687 )
2009
9
Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter. ( 17119336 )
2007
10
[Leukoencephalopathy with vanishing white matter: A case report]. ( 17072809 )
2006
11
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases. ( 16823698 )
2006
12
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5. ( 15136690 )
2004
13
Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. ( 15060152 )
2004
14
Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter. ( 14745082 )
2004
15
Leukoencephalopathy with vanishing white matter:: an adult onset case. ( 14694060 )
2003
16
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. ( 14572143 )
2003
17
Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families. ( 12015169 )
2002
18
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. ( 11835386 )
2002
19
Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia. ( 11706974 )
2001
20
A Japanese girl with leukoencephalopathy with vanishing white matter. ( 11226733 )
2001
21
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. ( 11704758 )
2001
22
Cree leukoencephalopathy and other leukoencephalopathies involving arcuate fibers. ( 11152822 )
2001
23
A case of leukoencephalopathy with vanishing white matter. ( 10832586 )
2000
24
The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. ( 10441579 )
1999
25
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. ( 10593550 )
1999
26
Phenotypic variation in leukoencephalopathy with vanishing white matter. ( 10522915 )
1999
27
Cree leukoencephalopathy: neuroimaging findings. ( 10551219 )
1999
28
Phenotypic variation in leukoencephalopathy with vanishing white matter. ( 9710032 )
1998
29
A new leukoencephalopathy with vanishing white matter. ( 9109866 )
1997

Variations for Leukoencephalopathy with Vanishing White Matter

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

76 (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 323)
# Gene Variation Type Significance SNP ID Assembly Location
1 EIF2B4 NM_015636.3(EIF2B4): c.1369+13A> C single nucleotide variant Benign/Likely benign rs78914478 GRCh37 Chromosome 2, 27587572: 27587572
2 EIF2B4 NM_015636.3(EIF2B4): c.1369+13A> C single nucleotide variant Benign/Likely benign rs78914478 GRCh38 Chromosome 2, 27364705: 27364705
3 EIF2B5 NM_003907.3(EIF2B5): c.318A> T (p.Leu106Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs113994048 GRCh37 Chromosome 3, 183854522: 183854522
4 EIF2B5 NM_003907.3(EIF2B5): c.318A> T (p.Leu106Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs113994048 GRCh38 Chromosome 3, 184136734: 184136734
5 EIF2B2 NM_014239.3(EIF2B2): c.599G> T (p.Gly200Val) single nucleotide variant Pathogenic/Likely pathogenic rs113994012 GRCh37 Chromosome 14, 75472570: 75472570
6 EIF2B2 NM_014239.3(EIF2B2): c.599G> T (p.Gly200Val) single nucleotide variant Pathogenic/Likely pathogenic rs113994012 GRCh38 Chromosome 14, 75005867: 75005867
7 EIF2B1 NM_001414.3(EIF2B1): c.547G> T (p.Val183Phe) single nucleotide variant Pathogenic rs863225048 GRCh37 Chromosome 12, 124110976: 124110976
8 EIF2B1 NM_001414.3(EIF2B1): c.547G> T (p.Val183Phe) single nucleotide variant Pathogenic rs863225048 GRCh38 Chromosome 12, 123626429: 123626429
9 EIF2B1 NM_001414.3(EIF2B1): c.833C> G (p.Pro278Arg) single nucleotide variant Pathogenic rs863225049 GRCh37 Chromosome 12, 124106388: 124106388
10 EIF2B1 NM_001414.3(EIF2B1): c.833C> G (p.Pro278Arg) single nucleotide variant Pathogenic rs863225049 GRCh38 Chromosome 12, 123621841: 123621841
11 EIF2B1 NM_001414.3(EIF2B1): c.328A> G (p.Lys110Glu) single nucleotide variant Pathogenic rs863225050 GRCh37 Chromosome 12, 124114757: 124114757
12 EIF2B1 NM_001414.3(EIF2B1): c.328A> G (p.Lys110Glu) single nucleotide variant Pathogenic rs863225050 GRCh38 Chromosome 12, 123630210: 123630210
13 EIF2B1 NM_001414.3(EIF2B1): c.613_615delGGA (p.Gly205del) deletion Pathogenic rs863225051 GRCh37 Chromosome 12, 124109346: 124109348
14 EIF2B1 NM_001414.3(EIF2B1): c.613_615delGGA (p.Gly205del) deletion Pathogenic rs863225051 GRCh38 Chromosome 12, 123624799: 123624801
15 EIF2B1 NM_001414.3(EIF2B1): c.824A> G (p.Tyr275Cys) single nucleotide variant Pathogenic rs758746181 GRCh37 Chromosome 12, 124106397: 124106397
16 EIF2B1 NM_001414.3(EIF2B1): c.824A> G (p.Tyr275Cys) single nucleotide variant Pathogenic rs758746181 GRCh38 Chromosome 12, 123621850: 123621850
17 EIF2B1 NM_001414.3(EIF2B1): c.715T> G (p.Phe239Val) single nucleotide variant Pathogenic rs863225052 GRCh37 Chromosome 12, 124107221: 124107221
18 EIF2B1 NM_001414.3(EIF2B1): c.715T> G (p.Phe239Val) single nucleotide variant Pathogenic rs863225052 GRCh38 Chromosome 12, 123622674: 123622674
19 EIF2B4 NM_001034116.1(EIF2B4): c.1070G> A (p.Arg357Gln) single nucleotide variant Pathogenic rs113994033 GRCh37 Chromosome 2, 27589747: 27589747
20 EIF2B4 NM_001034116.1(EIF2B4): c.1070G> A (p.Arg357Gln) single nucleotide variant Pathogenic rs113994033 GRCh38 Chromosome 2, 27366880: 27366880
21 EIF2B4 NM_001034116.1(EIF2B4): c.1120C> T (p.Arg374Cys) single nucleotide variant Pathogenic rs113994035 GRCh37 Chromosome 2, 27589697: 27589697
22 EIF2B4 NM_001034116.1(EIF2B4): c.1120C> T (p.Arg374Cys) single nucleotide variant Pathogenic rs113994035 GRCh38 Chromosome 2, 27366830: 27366830
23 EIF2B4 NM_001034116.1(EIF2B4): c.1191+1G> A single nucleotide variant Pathogenic rs113994037 GRCh37 Chromosome 2, 27589625: 27589625
24 EIF2B4 NM_001034116.1(EIF2B4): c.1191+1G> A single nucleotide variant Pathogenic rs113994037 GRCh38 Chromosome 2, 27366758: 27366758
25 EIF2B4 NM_001034116.1(EIF2B4): c.683C> T (p.Ala228Val) single nucleotide variant Pathogenic rs113994027 GRCh37 Chromosome 2, 27590914: 27590914
26 EIF2B4 NM_001034116.1(EIF2B4): c.683C> T (p.Ala228Val) single nucleotide variant Pathogenic rs113994027 GRCh38 Chromosome 2, 27368047: 27368047
27 EIF2B4 NM_001034116.1(EIF2B4): c.1393T> C (p.Cys465Arg) single nucleotide variant Pathogenic rs113994038 GRCh37 Chromosome 2, 27587446: 27587446
28 EIF2B4 NM_001034116.1(EIF2B4): c.1393T> C (p.Cys465Arg) single nucleotide variant Pathogenic rs113994038 GRCh38 Chromosome 2, 27364579: 27364579
29 EIF2B4 NM_001034116.1(EIF2B4): c.1465T> C (p.Tyr489His) single nucleotide variant Pathogenic rs113994040 GRCh37 Chromosome 2, 27587374: 27587374
30 EIF2B4 NM_001034116.1(EIF2B4): c.1465T> C (p.Tyr489His) single nucleotide variant Pathogenic rs113994040 GRCh38 Chromosome 2, 27364507: 27364507
31 EIF2B1 NM_001414.3(EIF2B1): c.252+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs113994006 GRCh37 Chromosome 12, 124114943: 124114943
32 EIF2B1 NM_001414.3(EIF2B1): c.252+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs113994006 GRCh38 Chromosome 12, 123630396: 123630396
33 EIF2B1 NM_001414.3(EIF2B1): c.622A> T (p.Asn208Tyr) single nucleotide variant Pathogenic rs113994007 GRCh37 Chromosome 12, 124109339: 124109339
34 EIF2B1 NM_001414.3(EIF2B1): c.622A> T (p.Asn208Tyr) single nucleotide variant Pathogenic rs113994007 GRCh38 Chromosome 12, 123624792: 123624792
35 EIF2B2 NM_014239.3(EIF2B2): c.638A> G (p.Glu213Gly) single nucleotide variant Pathogenic rs104894425 GRCh37 Chromosome 14, 75472609: 75472609
36 EIF2B2 NM_014239.3(EIF2B2): c.638A> G (p.Glu213Gly) single nucleotide variant Pathogenic rs104894425 GRCh38 Chromosome 14, 75005906: 75005906
37 EIF2B2 NM_014239.3(EIF2B2): c.947T> A (p.Val316Asp) single nucleotide variant Pathogenic rs104894426 GRCh37 Chromosome 14, 75475782: 75475782
38 EIF2B2 NM_014239.3(EIF2B2): c.947T> A (p.Val316Asp) single nucleotide variant Pathogenic rs104894426 GRCh38 Chromosome 14, 75009079: 75009079
39 EIF2B2 NM_014239.3(EIF2B2): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs104894427 GRCh37 Chromosome 14, 75471553: 75471553
40 EIF2B2 NM_014239.3(EIF2B2): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs104894427 GRCh38 Chromosome 14, 75004850: 75004850
41 EIF2B2 NM_014239.3(EIF2B2): c.512C> T (p.Ser171Phe) single nucleotide variant Pathogenic rs104894428 GRCh37 Chromosome 14, 75471518: 75471518
42 EIF2B2 NM_014239.3(EIF2B2): c.512C> T (p.Ser171Phe) single nucleotide variant Pathogenic rs104894428 GRCh38 Chromosome 14, 75004815: 75004815
43 EIF2B2 NM_014239.3(EIF2B2): c.607_612delATGGCTinsTG (p.Met203Trpfs) indel Pathogenic rs113994014 GRCh37 Chromosome 14, 75472578: 75472583
44 EIF2B2 NM_014239.3(EIF2B2): c.607_612delATGGCTinsTG (p.Met203Trpfs) indel Pathogenic rs113994014 GRCh38 Chromosome 14, 75005875: 75005880
45 EIF2B3 NM_020365.4(EIF2B3): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs113994024 GRCh37 Chromosome 1, 45347394: 45347394
46 EIF2B3 NM_020365.4(EIF2B3): c.674G> A (p.Arg225Gln) single nucleotide variant Pathogenic rs113994024 GRCh38 Chromosome 1, 44881722: 44881722
47 EIF2B3 EIF2B3, 2-BP DEL, 1295TG deletion Pathogenic
48 EIF2B3 NM_020365.4(EIF2B3): c.260C> T (p.Ala87Val) single nucleotide variant Pathogenic rs113994022 GRCh37 Chromosome 1, 45444021: 45444021
49 EIF2B3 NM_020365.4(EIF2B3): c.260C> T (p.Ala87Val) single nucleotide variant Pathogenic rs113994022 GRCh38 Chromosome 1, 44978349: 44978349
50 EIF2B3 NM_020365.4(EIF2B3): c.1037T> C (p.Ile346Thr) single nucleotide variant Pathogenic rs119474039 GRCh37 Chromosome 1, 45341306: 45341306

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:

38
# Name Kegg Source Accession
1 RNA transport hsa03013

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2
Show member pathways
13.5 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3
Show member pathways
13.5 AARS2 DARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4
4
Show member pathways
12.96 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2
5
Show member pathways
12.57 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2
6
Show member pathways
12.5 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
7
Show member pathways
12.47 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
8 11.95 EIF2B5 EIF5 PDIA4
9 11.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2
10 11.01 ATF4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
11
Show member pathways
10.96 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2

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 9.02 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.8 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 response to glucose GO:0009749 9.77 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 response to peptide hormone GO:0043434 9.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 response to endoplasmic reticulum stress GO:0034976 9.67 ATF4 EIF2B5 PDIA4
5 myelination GO:0042552 9.65 EIF2B2 EIF2B4 EIF2B5
6 response to heat GO:0009408 9.65 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
7 ovarian follicle development GO:0001541 9.63 EIF2B2 EIF2B4 EIF2B5
8 cellular metabolic process GO:0044237 9.61 EIF2B1 EIF2B2 EIF2B4
9 oligodendrocyte development GO:0014003 9.55 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
10 regulation of translational initiation GO:0006446 9.52 EIF2B2 EIF5
11 tRNA aminoacylation GO:0043039 9.51 AARS2 DARS2
12 translational initiation GO:0006413 9.5 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2
13 translation GO:0006412 9.32 AARS2 DARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4

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 9.32 EIF2B4 EIF2B5
3 translation factor activity, RNA binding GO:0008135 9.26 EIF2B3 EIF2S2 EIF5 GTF2H3
4 translation initiation factor activity GO:0003743 9.17 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S2
5 protein binding GO:0005515 10.16 AGRN ATF4 DARS2 DDX55 EIF2B1 EIF2B2

Sources for Leukoencephalopathy with Vanishing White Matter

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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