MCID: MGL002
MIFTS: 50

Megalencephalic Leukoencephalopathy with Subcortical Cysts malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section
Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 49 11 21 45 22 23 51 65
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 21 45 22 23 51 67
Leukoencephalopathy with Swelling and Cysts 45 23 67
Van Der Knaap Disease 21 22 67
Lvm 45 23 67
Mlc 45 23 51
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 22 24
Vl 23 67
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 23
 
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 67
Infantile Leukoencephalopathy and Megalencephaly 23
Megalencephaly - Cystic Leukodystrophy 51
Megalencephaly-Cystic Leukodystrophy 45
Vacuolating Leukoencephalopathy 23
Megalencephalic Leukodystrophy 51
Van Der Knaap Syndrome 51
Van Der Knapp Disease 23
Mlc1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 604004
Orphanet51 2478
UMLS via Orphanet66 C1858854
ICD10 via Orphanet28 E75.2
MedGen34 C1858854
MeSH36 D056784

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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NIH Rare Diseases:45 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 based summary: 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, and has symptoms including autosomal recessive inheritance, macrocephaly and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1), and among its related pathways are Mineral absorption and Bile secretion. Affiliated tissues include brain, cortex and temporal lobe.

Genetics Home Reference:23 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 leads to an increase in 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 contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Individuals affected with this condition may develop cysts in the brain; because these cysts form below an area of the brain called the cerebral cortex, they are called subcortical cysts. These cysts can grow in size and number.

OMIM:49 Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset... (604004) more...

UniProtKB/Swiss-Prot:67 Leukoencephalopathy, megalencephalic, with subcortical cysts, 1: A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes.

Wikipedia:68 Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of... more...

GeneReviews summary for mlc

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Diseases in the Megalencephalic Leukoencephalopathy with Subcortical Cysts family:

Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a Hepacam-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts
Mlc1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephalic leukoencephalopathy with subcortical cysts 2a10.9
2megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation10.9
3hepacam-related megalencephalic leukoencephalopathy with subcortical cysts10.7
4mlc1-related megalencephalic leukoencephalopathy with subcortical cysts10.7
5alexander disease10.5
6leukodystrophy10.5
7neuropathy10.5
8hepatosplenic t-cell lymphoma10.5
9visceral leishmaniasis10.4
10leishmaniasis10.4
11skin conditions10.4
12skin disease10.4
13parasitic protozoa infectious disease10.4
14kala-azar 210.3
15kala-azar 310.3
16kala-azar 110.3
17primary bacterial infectious disease10.3
18schizophrenia10.2
19nutritional deficiency disease10.2
20lung cancer10.1
21endotheliitis10.1
22acquired immunodeficiency syndrome10.1
23human immunodeficiency virus infectious disease10.1
24myeloma10.1
25sexual disorder10.1
26skin tag10.1
27ipex syndrome10.1
28bipolar disorder10.1
29stroke, ischemic10.0
30prostate cancer 110.0
31prostate cancer10.0
32hepatocellular carcinoma10.0
33breast cancer10.0
34creutzfeldt-jakob disease10.0
35digeorge syndrome10.0
36congestive heart failure10.0
37heart valve disease10.0
38leukemia10.0
39single ventricular heart10.0
40mitral valve insufficiency10.0
41subacute delirium10.0
42adjustment disorder10.0
43amnestic disorder10.0
44congenital heart disease10.0
45dementia10.0
46influenza10.0
47intestinal disease10.0
48ischemia10.0
49lymph node cancer10.0
50lymph node disease10.0

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



Diseases related to megalencephalic leukoencephalopathy with subcortical cysts

Symptoms for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Symptoms by clinical synopsis from OMIM:

604004

Clinical features from OMIM:

604004

HPO human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 macrocephaly HP:0000256
3 seizures HP:0001250
4 ataxia HP:0001251
5 intellectual disability, mild HP:0001256
6 spasticity HP:0001257
7 motor delay HP:0001270
8 megalencephaly HP:0001355
9 infantile onset HP:0003593
10 diffuse spongiform leukoencephalopathy HP:0006943
11 diffuse swelling of cerebral white matter HP:0007341

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Drugs for Megalencephalic Leukoencephalopathy with Subcortical Cysts (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Doxycyclineapproved, investigational204564-25-054671203, 5281011
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline

Interventional clinical trials:

idNameStatusNCT IDPhase
1Protection of the Heart With Doxycycline During Coronary Artery Bypass GraftingCompletedNCT00246740

Search NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

id Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts22 MLC1
2 Megalencephalic Leukoencephalopathy with Subcortical Cysts 122 24

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

33
Brain, Cortex, Temporal lobe, Monocytes, Heart

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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Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
A Mutation-Positive Child of Megalencephalic Leukoencephalopathy With Subcortical Cysts: Classical ImagingA Findings. (26365204)
2015
2
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. (25497041)
2015
3
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. (25767710)
2015
4
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation. (25742591)
2015
5
Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. (25919557)
2015
6
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain. (25796299)
2015
7
Teaching neuroimages: Resolution of MRI abnormalities in megalencephalic leukoencephalopathy with subcortical cysts. (24821940)
2014
8
Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts. (24584635)
2014
9
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. (24824219)
2014
10
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis. (24561067)
2014
11
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. (24202401)
2013
12
Megalencephalic leukoencephalopathy with subcortical cysts. (24273671)
2013
13
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. (23851226)
2013
14
An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts. (23485252)
2013
15
Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family. (22919198)
2012
16
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
17
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. (23079554)
2012
18
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. (22416245)
2012
19
A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis. (22382567)
2012
20
Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases. (21977097)
2011
21
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (21624973)
2011
22
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21160490)
2011
23
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (21419380)
2011
24
A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21307857)
2011
25
Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. (20560255)
2010
26
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. (20187760)
2010
27
Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. (18821826)
2009
28
Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. (19168821)
2009
29
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. (18757878)
2008
30
Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases]. (18772751)
2008
31
Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India. (18040118)
2007
32
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. (17507156)
2007
33
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. (17236107)
2006
34
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. (16470554)
2006
35
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. (17077634)
2006
36
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (16652334)
2006
37
Megalencephalic leukoencephalopathy with subcortical cysts. (15695862)
2005
38
Megalencephalic leukoencephalopathy with subcortical cysts. (15758546)
2005
39
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. (15832614)
2005
40
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. (15367490)
2004
41
Megalencephalic leukoencephalopathy with subcortical cysts. (15163886)
2004
42
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. (12850517)
2003
43
Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features. (14742938)
2003
44
Megalencephalic leukoencephalopathy with subcortical cysts. (14572144)
2003
45
Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. (12684714)
2003
46
Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). (12973664)
2003
47
Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts. (12915085)
2003
48
The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain. (14603469)
2003
49
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. (12973663)
2003
50
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. (11935341)
2002

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

67 (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

Clinvar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1MLC1NM_015166.3(MLC1): c.714+1G> Asingle nucleotide variantLikely pathogenicrs761620701GRCh38Chr 22, 50074215: 50074215
2MLC1NM_015166.3(MLC1): c.324delT (p.Asn110Thrfs)deletionLikely pathogenicrs786204747GRCh38Chr 22, 50080017: 50080017
3MLC1NM_015166.3(MLC1): c.223delG (p.Val75Cysfs)deletionPathogenicrs794729233GRCh38Chr 22, 50083128: 50083128
4MLC1NM_015166.3(MLC1): c.178-10T> Asingle nucleotide variantPathogenicrs80358243GRCh37Chr 22, 50521612: 50521612
5MLC1NM_015166.3(MLC1): c.298_423+108deldeletionPathogenicGRCh37Chr 22, 50518239: 50518796
6HEPACAMNM_152722.4(HEPACAM): c.587C> A (p.Ser196Tyr)single nucleotide variantPathogenicrs387907049GRCh37Chr 11, 124793747: 124793747
7HEPACAMHEPACAM, TRP263TERundetermined variantPathogenic
8HEPACAMNM_152722.4(HEPACAM): c.275G> A (p.Arg92Gln)single nucleotide variantPathogenicrs387907050GRCh37Chr 11, 124794776: 124794776
9HEPACAMNM_152722.4(HEPACAM): c.631G> A (p.Asp211Asn)single nucleotide variantPathogenicrs387907051GRCh37Chr 11, 124793703: 124793703
10HEPACAMNM_152722.4(HEPACAM): c.292C> T (p.Arg98Cys)single nucleotide variantPathogenicrs387907052GRCh37Chr 11, 124794759: 124794759
11HEPACAMNM_152722.4(HEPACAM): c.265G> A (p.Gly89Ser)single nucleotide variantPathogenicrs387907053GRCh37Chr 11, 124794786: 124794786
12HEPACAMNM_152722.4(HEPACAM): c.274C> T (p.Arg92Trp)single nucleotide variantPathogenicrs387907055GRCh37Chr 11, 124794777: 124794777
13MLC1NM_015166.3(MLC1): c.206C> T (p.Ser69Leu)single nucleotide variantPathogenicrs281875309GRCh37Chr 22, 50521574: 50521574
14MLC1NM_015166.3(MLC1): c.839C> T (p.Ser280Leu)single nucleotide variantPathogenicrs121908341GRCh37Chr 22, 50506917: 50506917
15MLC1NM_015166.3(MLC1): c.278C> T (p.Ser93Leu)single nucleotide variantPathogenicrs80358245GRCh37Chr 22, 50518816: 50518816
16MLC1MLC1, 7-BP DEL, NT564deletionPathogenic
17MLC1MLC1, IVS10AS, A-G, -2single nucleotide variantPathogenic
18MLC1NM_015166.3(MLC1): c.423C> A (p.Asn141Lys)single nucleotide variantPathogenicrs121908343GRCh37Chr 22, 50518347: 50518347
19MLC1NM_015166.3(MLC1): c.422A> G (p.Asn141Ser)single nucleotide variantPathogenicrs121908344GRCh37Chr 22, 50518348: 50518348
20MLC1NM_015166.3(MLC1): c.274C> T (p.Pro92Ser)single nucleotide variantPathogenicrs121908345GRCh37Chr 22, 50518820: 50518820
21MLC1NM_015166.3(MLC1): c.594_597delCTCA (p.Tyr198Terfs)deletionPathogenicrs267607236GRCh37Chr 22, 50515270: 50515273
22MLC1NM_015166.3(MLC1): c.176G> A (p.Gly59Glu)single nucleotide variantPathogenicrs80358242GRCh37Chr 22, 50523156: 50523156
23MLC1NM_015166.3(MLC1): c.135dupC (p.Cys46Leufs)duplicationPathogenicrs80358241GRCh37Chr 22, 50523197: 50523197
24MLC1MLC1, 17-BP DEL, G INSindelPathogenic

Expression for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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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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Pathways related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ATP1B1, CLCN2
29.5AQP4, ATP1B1
3
Show member pathways
9.0ATP1B1, CLCN2, TRPV4

GO Terms for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:000590110.0ATP1B1, MLC1
2basolateral plasma membraneGO:00163239.2AQP4, ATP1B1, MLC1
3apical plasma membraneGO:00163249.0ATP1B1, MLC1, TRPV4

Biological processes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of response to osmotic stressGO:004748410.2MLC1, TRPV4
2multicellular organismal water homeostasisGO:00508919.8AQP4, TRPV4
3ion transmembrane transportGO:00342208.6AQP4, ATP1B1, CLCN2, TRPV4
4transmembrane transportGO:00550858.5AQP4, ATP1B1, CLCN2, TRPV4

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet