VL
MCID: MGL002
MIFTS: 31

Megalencephalic Leukoencephalopathy with Subcortical Cysts (VL) malady

Neuronal category

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Megalencephalic leukoencephalopathy with subcortical cysts is a condition that affects brain development and function. children with this condition have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. they also have an abnormality of the brain's white matter (leukoencephalopathy). the leukoencephalopathy may ultimately result in abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, speech difficulties, and seizures. despite the brain abnormalities people with this condition tend to have only mild to moderate learning impairment. this condition may affect a child’s ability to walk, however some children are able to walk well into adulthood. it is important to protect people with mlc from even mild head trauma, because head trauma can cause further impairments and may lead to coma. this condition is genetic and is passed through families in an autosomal recessive pattern. it is most often caused by changes in the mlc1 gene. last updated: 6/4/2009

MalaCards: Megalencephalic Leukoencephalopathy with Subcortical Cysts, also known as vacuolating megalencephalic leukoencephalopathy with subcortical cysts, is related to megalencephalic leukoencephalopathy with subcortical cysts 2a and megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (megalencephalic leukoencephalopathy with subcortical cysts 1), and among its related pathways is Mineral absorption. The compounds chlorambucil and sodium have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex.

Genetics Home Reference:21 Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function. Individuals with this condition typically have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. Megalencephaly progressively increases the size of the head. Affected people also have leukoencephalopathy, an abnormality of the brain's white matter. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In megalencephalic leukoencephalopathy with subcortical cysts, the myelin is swollen and stippled with fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop subcortical cysts below an area of the brain called the cerebral cortex. These cysts can grow in size and number.

Wikipedia:64 Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of... more...

Description from OMIM:47 604004,613925,613926

GeneReviews summary for mlc

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

megalencephalic leukoencephalopathy with subcortical cysts 19 43 20 21 47 49 61
vacuolating megalencephalic leukoencephalopathy with subcortical cysts 19 43 21 49
mlc 43 21 49
leukoencephalopathy with swelling and cysts 43 21
lvm 43 21
leukoencephalopathy with swelling and a discrepantly mild course 21
infantile leukoencephalopathy and megalencephaly 21
megalencephaly - cystic leukodystrophy 49
megalencephaly-cystic leukodystrophy 43
vacuolating leukoencephalopathy 21
megalencephalic leukodystrophy 49
van der knaap syndrome 49
van der knapp disease 21
van der knaap disease 19
derivative chromosome 61
vl 21


External Ids:

ICD10 via Orphanet26 E75.2

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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17GeneCards, 18GeneDecks
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Diseases in the Megalencephalic Leukoencephalopathy with Subcortical Cysts family:

megalencephalic leukoencephalopathy with subcortical cysts 2a megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
megalencephalic leukoencephalopathy with subcortical cysts 1

Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephalic leukoencephalopathy with subcortical cysts 2a10.8
2megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation10.8
3megalencephalic leukoencephalopathy with subcortical cysts 110.7
4mlc1-related megalencephalic leukoencephalopathy with subcortical cysts10.6
5hepacam-related megalencephalic leukoencephalopathy with subcortical cysts10.6
6alexander disease10.4
7macrocephaly, benign familial10.4
8chronic myeloid leukemia10.2
9visceral leishmaniasis10.2
10digeorge syndrome10.0
11t-cell leukemia10.0
12acute leukemia10.0
13lipoblastoma10.0
14mu chain disease10.0
15inferior myocardial infarction10.0
16acute myocardial infarction10.0
17arthritis10.0
18rh-mod syndrome10.0
19colorectal cancer10.0MCL1
20leukodystrophy10.0MLC1
21achondroplasia9.9
22acute t cell leukemia9.9
23emery-dreifuss muscular dystrophy9.9
24holoprosencephaly9.9
25micro syndrome9.9
26emanuel syndrome9.9
27acute promyelocytic leukemia9.9
28leukemia, t-cell, chronic9.9
29miller-dieker syndrome9.9
30holoprosencephaly-19.9
31intellectual disability-brachydactyly-pierre robin syndrome9.9

Graphical network of the top 20 diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:



Diseases related to megalencephalic leukoencephalopathy with subcortical cysts

Clinical Features for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
47OMIM
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Clinical features from OMIM:

604004,613925,613926

Clinical synopsis from OMIM:

604004

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Drug clinical trials:

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Search NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Search CenterWatch for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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20GeneTests
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Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

id Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy With Subcortical Cysts20 MLC1

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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33MalaCards
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MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

33
Brain, Cortex

Animal Models for Megalencephalic Leukoencephalopathy with Subcortical Cysts or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

63 (show all 15)
id Symbol AA change Variation SNP ID
1MLC1p.Ser93LeuVAR_011699rs80358245
2MLC1p.Thr118ArgVAR_011700rs281875316
3MLC1p.Gly212ArgVAR_011701rs281875317
4MLC1p.Ser280LeuVAR_011702rs121908341
5MLC1p.Gly59GluVAR_017438rs80358242
6MLC1p.Pro92SerVAR_017439rs121908345
7MLC1p.Asn141LysVAR_017440rs121908343
8MLC1p.Asn141SerVAR_017441rs121908344
9MLC1p.Ser69LeuVAR_067762rs281875309
10MLC1p.Met80IleVAR_067763rs281875310
11MLC1p.Arg84CysVAR_067764rs281875311
12MLC1p.Cys125ArgVAR_067765rs281875314
13MLC1p.Ala245ProVAR_067766rs281875312
14MLC1p.Ser246ArgVAR_067767rs281875315
15MLC1p.Thr320LysVAR_067768rs281875313

Expression for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Search GEO for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Pathways for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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30KEGG
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Pathways related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CLCN2, ATP1B1

Compounds for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorambucil45 1110.5MCL1, MGST1
2sodium45 249.4AQP4, CLCN2, TRPV4, ATP1B1

GO Terms for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Sources:
16Gene Ontology
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Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.8ATP1B1, MLC1
2cell-cell junctionGO:0059119.4AQP4, MLC1, HEPACAM
3basolateral plasma membraneGO:0163239.2AQP4, ATP1B1, MLC1

Biological processes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of response to osmotic stressGO:0474849.7TRPV4, MLC1
2hyperosmotic salinity responseGO:0425389.4AQP4, TRPV4
3transportGO:0068108.8AQP4, CLCN2, ATP1B1, MLC1

Products for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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  • Lysates
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Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet