VL
MCID: MGL002
MIFTS: 48

Megalencephalic Leukoencephalopathy with Subcortical Cysts (VL) malady

Neuronal diseases category

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 leukodystrophy and megalencephalic leukoencephalopathy with subcortical cysts 2a. 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, cortex and monocytes.

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

Description from OMIM:46 604004,613925,613926

GeneReviews summary for mlc

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 21 46 48 60
vacuolating megalencephalic leukoencephalopathy with subcortical cysts 19 42 21 48
mlc 42 21 48
leukoencephalopathy with swelling and cysts 42 21
lvm 42 21
leukoencephalopathy with swelling and a discrepantly mild course 21
infantile leukoencephalopathy and megalencephaly 21
megalencephaly - cystic leukodystrophy 48
megalencephaly-cystic leukodystrophy 42
vacuolating leukoencephalopathy 21
megalencephalic leukodystrophy 48
van der knaap syndrome 48
van der knapp disease 21
van der knaap disease 19
derivative chromosome 60
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:

Mlc1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts Hepacam-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 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 38)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy30.6MLC1
2megalencephalic leukoencephalopathy with subcortical cysts 2a10.8
3megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation10.8
4megalencephalic leukoencephalopathy with subcortical cysts 110.7
5mlc1-related megalencephalic leukoencephalopathy with subcortical cysts10.6
6hepacam-related megalencephalic leukoencephalopathy with subcortical cysts10.6
7alexander disease10.4
8neuropathy10.4
9chronic myeloid leukemia10.1
10myeloid leukemia10.1
11visceral leishmaniasis10.1
12myeloma10.1
13acute leukemia10.0
14digeorge syndrome10.0
15hepatocellular carcinoma10.0
16influenza10.0
17intestinal disease10.0
18ischemia10.0
19leukemia10.0
20lung cancer10.0
21colorectal cancer10.0MCL1
22alzheimer's disease9.9
23inferior myocardial infarction9.9
24acute myocardial infarction9.9
25arthritis9.9
26chronic lymphocytic leukemia9.9
27heavy chain disease9.9
28myasthenia gravis9.9
29myocardial infarction9.9
30peripheral neuropathy9.9
31rheumatoid arthritis9.9
32achondroplasia9.8
33emery-dreifuss muscular dystrophy9.8
34holoprosencephaly9.8
35chromosomal disease9.8
36sarcoma9.8
37emanuel syndrome9.8
38intellectual disability-brachydactyly-pierre robin syndrome9.8

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

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46OMIM
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Clinical features from OMIM:

604004,613925,613926

Clinical synopsis from OMIM:

604004

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

32
Brain, Cortex, Monocytes

Animal Models for Megalencephalic Leukoencephalopathy with Subcortical Cysts or affiliated genes

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Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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50PubMed
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Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts inA Egyptian Patients. (24315536)
2014
2
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. (24202401)
2013
3
Megalencephalic leukoencephalopathy with subcortical cysts. (24273671)
2013
4
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. (23851226)
2013
5
An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts. (23485252)
2013
6
Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family. (22919198)
2012
7
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations. (22328087)
2012
8
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. (23079554)
2012
9
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. (22416245)
2012
10
A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis. (22382567)
2012
11
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T&gt;G) abrogated in vitro using an antisense morpholino oligonucleotide. (22552818)
2012
12
Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases. (21977097)
2011
13
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (21624973)
2011
14
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21160490)
2011
15
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (21419380)
2011
16
A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21307857)
2011
17
A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. (21487377)
2011
18
Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. (20560255)
2010
19
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. (20187760)
2010
20
Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. (18821826)
2009
21
Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. (19168821)
2009
22
Megalencephalic leukoencephalopathy with subcortical cysts in an adult. (19402576)
2009
23
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. (18757878)
2008
24
Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases]. (18772751)
2008
25
Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India. (18040118)
2007
26
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. (17507156)
2007
27
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. (17236107)
2006
28
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. (16470554)
2006
29
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. (17077634)
2006
30
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (16652334)
2006
31
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. (16807904)
2006
32
Megalencephalic leukoencephalopathy with subcortical cysts. (15695862)
2005
33
Megalencephalic leukoencephalopathy with subcortical cysts. (15758546)
2005
34
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. (15832614)
2005
35
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. (15367490)
2004
36
Megalencephalic leukoencephalopathy with subcortical cysts. (15163886)
2004
37
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. (12850517)
2003
38
Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features. (14742938)
2003
39
Megalencephalic leukoencephalopathy with subcortical cysts. (14572144)
2003
40
Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. (12684714)
2003
41
Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). (12973664)
2003
42
Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts. (12915085)
2003
43
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. (12973663)
2003
44
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. (11935341)
2002
45
Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. (12477442)
2002
46
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. (12189496)
2002
47
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. (11254442)
2001
48
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study. (11437163)
2001
49
Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. (10677334)
2000
50
Megalencephalic Leukoencephalopathy with Subcortical Cysts (20301707)
1993

Genetic Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

62 (show all 15)
id Symbol AA change Variation ID 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

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

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Pathways for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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29KEGG
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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

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorambucil44 1110.5MCL1, MGST1
2sodium44 249.4AQP4, CLCN2, TRPV4, ATP1B1

GO Terms for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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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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Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
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34MeSH
35MESH via Orphanet
36MGI
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40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
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51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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