MCID: MGL002
MIFTS: 50

Megalencephalic Leukoencephalopathy with Subcortical Cysts malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

Aliases & Descriptions for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 50 22 46 23 24 52 25 12 66
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 22 46 23 24 52 68
Van Der Knaap Disease 22 23 24 68
Leukoencephalopathy with Swelling and Cysts 46 24 68
Mlc 46 24 52
Lvm 46 24 68
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 68 25
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 24
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 23
 
Infantile Leukoencephalopathy and Megalencephaly 24
Megalencephaly-Cystic Leukodystrophy Syndrome 52
Megalencephaly-Cystic Leukodystrophy 46
Vacuolating Leukoencephalopathy 24
Megalencephalic Leukodystrophy 52
Van Der Knaap Syndrome 52
Mlc1 68
Vl 68

Characteristics:

Orphanet epidemiological data:

52
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 604004
Orphanet52 ORPHA2478
ICD10 via Orphanet29 E75.2
UMLS via Orphanet67 C1858854
MedGen35 C1858854
MeSH37 D056784

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section
NIH Rare Diseases:46 Megalencephalic leukoencephalopathy with subcortical cysts (mlc) is a condition that affects brain development and function. individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). white matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. in mlc, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). over time, the swelling decreases and the myelin begins to waste away (atrophy). leukoencephalopathy can lead to abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, mild to moderate intellectual disabilities, speech difficulties, seizures, and difficulties walking. there are three types of mlc, which are distinguished by their signs and symptoms and genetic cause. type 1 is caused by mutations in the mlc1 gene. types 2a and 2b are caused by mutations in the hepacam gene. mlc types 1 and 2a are inherited in an autosomal recessive manner, while type 2b is inherited in an autosomal dominant manner. in approximately 5% of individuals with mlc, the cause is unknown.  although there is no specific treatment or cure for mlc, there are ways to manage the symptoms, such as use of antiepileptic drugs, physical therapy, and speech therapy. management additionally includes avoiding injury to the head, which can temporarily worsen symptoms. a team of doctors or specialists is often needed to figure out the treatment options for each person. last updated: 9/7/2016

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 2b, remitting, with or without mental retardation and megalencephalic leukoencephalopathy with subcortical cysts 2a, and has symptoms including ataxia, ataxia and muscle spasticity. 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, and related mouse phenotypes are vision/eye and nervous system.

Genetics Home Reference:24 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 (macrocephaly). 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:50 Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset... (604004) more...

UniProtKB/Swiss-Prot:68 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:69 Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of... more...

GeneReviews summary for NBK1535

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

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 all 33)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation12.6
2megalencephalic leukoencephalopathy with subcortical cysts 2a12.5
3hepacam-related megalencephalic leukoencephalopathy with subcortical cysts12.4
4mlc1-related megalencephalic leukoencephalopathy with subcortical cysts12.4
5schizophrenia11.5
6l-2-hydroxyglutaric aciduria11.0
7cerebral degeneration11.0
8aortic valve insufficiency11.0
9megalencephaly11.0
10hepatosplenic t-cell lymphoma10.7
11visceral leishmaniasis10.6
12alexander disease10.2
13leukodystrophy10.2
14epilepsy10.2
15neuropathy10.2
16endotheliitis10.0
17myeloma9.9
18lung cancer9.8
19hepatocellular carcinoma9.8
20breast cancer9.8
21creutzfeldt-jakob disease9.8
22digeorge syndrome9.8
23leukemia9.8
24ischemia9.8
25intestinal disease9.8
26influenza9.8
27rheumatoid arthritis9.8
28myocardial infarction9.8
29arthritis9.8
30chronic lymphocytic leukemia9.8
31myasthenia gravis9.8
32leishmaniasis9.8
33microcephaly and chorioretinopathy, autosomal recessive, 16.0AQP4, ATP1B1, BAMBI, CLCN2, FBLN1, HEPACAM

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

About this section

Symptoms by clinical synopsis from OMIM:

604004

Clinical features from OMIM:

604004

HPO human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

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

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:


ataxia, muscle spasticity, seizures

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Doxycycline232564-25-054671203
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
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
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
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)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
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 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

About this section

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

id Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 125 23
2 Megalencephalic Leukoencephalopathy with Subcortical Cysts25 23 MLC1

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

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

34
Brain, Cortex, Temporal lobe, Heart, Monocytes

Animal Models for Megalencephalic Leukoencephalopathy with Subcortical Cysts or affiliated genes

About this section

MGI Mouse Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.9AQP4, CLCN2, FBLN1, TRPV4, VTI1A
2MP:00036317.0AQP4, CLCN2, FBLN1, HEPACAM, MLC1, TRPV4

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. (27322623)
2016
2
Megalencephalic leukoencephalopathy with subcortical cysts. (27015955)
2016
3
Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder. (27293337)
2016
4
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes. (26908604)
2016
5
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. (25767710)
2015
6
Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. (25919557)
2015
7
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE. (26349194)
2015
8
A Mutation-Positive Child of Megalencephalic Leukoencephalopathy With Subcortical Cysts: Classical ImagingA Findings. (26365204)
2015
9
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. (25497041)
2015
10
Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts. (24584635)
2014
11
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. (24824219)
2014
12
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis. (24561067)
2014
13
Teaching neuroimages: Resolution of MRI abnormalities in megalencephalic leukoencephalopathy with subcortical cysts. (24821940)
2014
14
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. (24202401)
2013
15
Megalencephalic leukoencephalopathy with subcortical cysts. (24273671)
2013
16
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. (23851226)
2013
17
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
18
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. (23079554)
2012
19
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
20
Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family. (22919198)
2012
21
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (21419380)
2011
22
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
23
Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases. (21977097)
2011
24
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (21624973)
2011
25
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21160490)
2011
26
Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. (20560255)
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
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. (17507156)
2007
32
Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India. (18040118)
2007
33
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. (16470554)
2006
34
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. (16807904)
2006
35
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. (17236107)
2006
36
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. (15832614)
2005
37
Megalencephalic leukoencephalopathy with subcortical cysts. (15695862)
2005
38
Megalencephalic leukoencephalopathy with subcortical cysts. (15758546)
2005
39
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. (15367490)
2004
40
Megalencephalic leukoencephalopathy with subcortical cysts. (15163886)
2004
41
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. (12850517)
2003
42
Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features. (14742938)
2003
43
Megalencephalic leukoencephalopathy with subcortical cysts. (14572144)
2003
44
Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. (12684714)
2003
45
Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts. (12915085)
2003
46
Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). (12973664)
2003
47
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. (11935341)
2002
48
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. (11254442)
2001
49
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study. (11437163)
2001
50
Megalencephalic Leukoencephalopathy with Subcortical Cysts (20301707)
1993

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

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

68 (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 17)
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
6MLC1NM_015166.3(MLC1): c.206C> T (p.Ser69Leu)single nucleotide variantPathogenicrs281875309GRCh37Chr 22, 50521574: 50521574
7MLC1NM_015166.3(MLC1): c.839C> T (p.Ser280Leu)single nucleotide variantPathogenicrs121908341GRCh37Chr 22, 50506917: 50506917
8MLC1NM_015166.3(MLC1): c.278C> T (p.Ser93Leu)single nucleotide variantPathogenicrs80358245GRCh37Chr 22, 50518816: 50518816
9MLC1MLC1, 7-BP DEL, NT564deletionPathogenic
10MLC1MLC1, IVS10AS, A-G, -2single nucleotide variantPathogenic
11MLC1NM_015166.3(MLC1): c.423C> A (p.Asn141Lys)single nucleotide variantPathogenicrs121908343GRCh37Chr 22, 50518347: 50518347
12MLC1NM_015166.3(MLC1): c.422A> G (p.Asn141Ser)single nucleotide variantPathogenicrs121908344GRCh37Chr 22, 50518348: 50518348
13MLC1NM_015166.3(MLC1): c.274C> T (p.Pro92Ser)single nucleotide variantPathogenicrs121908345GRCh37Chr 22, 50518820: 50518820
14MLC1NM_015166.3(MLC1): c.594_597delCTCA (p.Tyr198Terfs)deletionPathogenicrs267607236GRCh37Chr 22, 50515270: 50515273
15MLC1NM_015166.3(MLC1): c.176G> A (p.Gly59Glu)single nucleotide variantPathogenicrs80358242GRCh37Chr 22, 50523156: 50523156
16MLC1NM_015166.3(MLC1): c.135dupC (p.Cys46Leufs)duplicationPathogenicrs80358241GRCh37Chr 22, 50523197: 50523197
17MLC1MLC1, 17-BP DEL, G INSindelPathogenic

Expression for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

Pathways for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.8ATP1B1, CLCN2
29.8AQP4, ATP1B1
3
Show member pathways
9.4ATP1B1, CLCN2, TRPV4

GO Terms for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section

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

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:000590110.1ATP1B1, MLC1
2basolateral plasma membraneGO:00163239.9AQP4, ATP1B1, MLC1
3clathrin-coated vesicleGO:00301369.9MLC1, VTI1A
4apical plasma membraneGO:00163249.2ATP1B1, MLC1, TRPV4
5integral component of membraneGO:00160217.2BAMBI, HEPACAM, MCL1, MGST1, 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:004748410.4MLC1, TRPV4
2multicellular organismal water homeostasisGO:005089110.2AQP4, TRPV4
3ion transmembrane transportGO:00342209.4AQP4, ATP1B1, CLCN2
4transportGO:00068109.2AQP4, CLCN2, MLC1

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet