MLC1
MCID: MGL002
MIFTS: 51

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Aliases & Descriptions for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 52 23 48 24 25 54 27 12 68
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 23 48 24 25 54 70
Van Der Knaap Disease 23 24 25 70
Leukoencephalopathy with Swelling and Cysts 48 25 70
Lvm 48 25 70
Mlc 48 25 54
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 70 27
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 25
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 24
 
Infantile Leukoencephalopathy and Megalencephaly 25
Megalencephaly-Cystic Leukodystrophy Syndrome 54
Megalencephaly-Cystic Leukodystrophy 48
Vacuolating Leukoencephalopathy 25
Megalencephalic Leukodystrophy 54
Van Der Knaap Syndrome 54
Mlc1 70
Vl 70

Characteristics:

Orphanet epidemiological data:

54
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 604004
Orphanet54 ORPHA2478
UMLS via Orphanet69 C1858854
ICD10 via Orphanet31 E75.2
MedGen37 C1858854
MeSH39 D056784

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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NIH Rare Diseases:48 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 Bile secretion and Mineral absorption. Affiliated tissues include brain, temporal lobe and cortex, and related mouse phenotypes are nervous system and vision/eye.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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:52 Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset... (604004) more...

Wikipedia:71 Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of... more...

GeneReviews for NBK1535

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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



Diseases related to megalencephalic leukoencephalopathy with subcortical cysts

Symptoms & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Symptoms by clinical synopsis from OMIM:

604004

Clinical features from OMIM:

604004

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 macrocephaly64 HP:0000256
2 seizures64 HP:0001250
3 ataxia64 HP:0001251
4 intellectual disability, mild64 HP:0001256
5 spasticity64 HP:0001257
6 motor delay64 HP:0001270
7 megalencephaly64 HP:0001355
8 diffuse spongiform leukoencephalopathy64 HP:0006943
9 diffuse swelling of cerebral white matter64 HP:0007341

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:


ataxia, muscle spasticity, seizures

MGI Mouse Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5AQP4, CLCN2, FBLN1, HEPACAM, MLC1, TRPV4
2MP:00053918.4AQP4, CLCN2, FBLN1, TRPV4, VTI1A

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Doxycyclineapproved, investigational, vet_approved243564-25-054671203
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
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
5-hydroxy-α-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
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
Anhydrous 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
2Antiprotozoal Agents2051
3Antiparasitic Agents2199
4Antimalarials1246
5Anti-Infective Agents22062
6Anti-Bacterial Agents11226

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 Cysts 127 24
2 Megalencephalic Leukoencephalopathy with Subcortical Cysts27 24 MLC1

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

36
Brain, Temporal lobe, Cortex, Monocytes

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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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
Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder. (27293337)
2016
3
Megalencephalic leukoencephalopathy with subcortical cysts. (27015955)
2016
4
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes. (26908604)
2016
5
Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. (25919557)
2015
6
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE. (26349194)
2015
7
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain. (25796299)
2015
8
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. (25767710)
2015
9
A Mutation-Positive Child of Megalencephalic Leukoencephalopathy With Subcortical Cysts: Classical ImagingA Findings. (26365204)
2015
10
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation. (25742591)
2015
11
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. (25497041)
2015
12
Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts inA Egyptian Patients. (24315536)
2014
13
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. (27081509)
2014
14
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis. (24561067)
2014
15
Teaching neuroimages: Resolution of MRI abnormalities in megalencephalic leukoencephalopathy with subcortical cysts. (24821940)
2014
16
Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts. (24584635)
2014
17
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. (24824219)
2014
18
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. (23851226)
2013
19
Megalencephalic leukoencephalopathy with subcortical cysts. (24273671)
2013
20
An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts. (23485252)
2013
21
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. (24202401)
2013
22
A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis. (22382567)
2012
23
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. (23079554)
2012
24
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. (22416245)
2012
25
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide. (22552818)
2012
26
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
27
Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family. (22919198)
2012
28
Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases. (21977097)
2011
29
A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21307857)
2011
30
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
31
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. (21419380)
2011
32
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. (21624973)
2011
33
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). (21160490)
2011
34
Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. (20560255)
2010
35
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. (20187760)
2010
36
Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. (18821826)
2009
37
Megalencephalic leukoencephalopathy with subcortical cysts in an adult. (19402576)
2009
38
Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. (19168821)
2009
39
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. (18757878)
2008
40
Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases]. (18772751)
2008
41
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. (17507156)
2007
42
Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India. (18040118)
2007
43
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. (17077634)
2006
44
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. (17236107)
2006
45
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. (16652334)
2006
46
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. (16470554)
2006
47
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. (16807904)
2006
48
Megalencephalic leukoencephalopathy with subcortical cysts. (15695862)
2005
49
Megalencephalic leukoencephalopathy with subcortical cysts. (15758546)
2005
50
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. (15832614)
2005

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

70 (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 28)
id Gene Variation Type Significance SNP ID Assembly Location
1MLC1NM_ 015166.3(MLC1): c.714+1G> ASNVLikely 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> ASNVPathogenicrs80358243GRCh37Chr 22, 50521612: 50521612
5MLC1NM_ 015166.3(MLC1): c.298_ 423+108deldeletionPathogenicrs398102376GRCh37Chr 22, 50518239: 50518796
6MLC1NM_ 015166.3(MLC1): c.206C> T (p.Ser69Leu)SNVPathogenicrs281875309GRCh37Chr 22, 50521574: 50521574
7MLC1NM_ 015166.3(MLC1): c.83dupA (p.Tyr28Terfs)duplicationLikely pathogenicrs1057516286GRCh37Chr 22, 50523249: 50523249
8MLC1NM_ 015166.3(MLC1): c.271_ 272delAT (p.Ile91Profs)deletionLikely pathogenicrs1057516336GRCh37Chr 22, 50518822: 50518823
9MLC1NM_ 015166.3(MLC1): c.973C> T (p.Gln325Ter)SNVLikely pathogenicrs1057516465GRCh38Chr 22, 50064120: 50064120
10MLC1NM_ 015166.3(MLC1): c.136delT (p.Cys46Alafs)deletionLikely pathogenicrs1057516766GRCh37Chr 22, 50523196: 50523196
11MLC1NM_ 015166.3(MLC1): c.449_ 455delTCCTGCT (p.Leu150Argfs)deletionPathogenicrs1057517090GRCh37Chr 22, 50515900: 50515906
12MLC1NM_ 015166.3(MLC1): c.67C> T (p.Gln23Ter)SNVLikely pathogenicrs1057517228GRCh37Chr 22, 50523265: 50523265
13MLC1NM_ 015166.3(MLC1): c.525+1G> ASNVLikely pathogenicrs769135961GRCh37Chr 22, 50515829: 50515829
14MLC1NM_ 015166.3(MLC1): c.895-1G> CSNVLikely pathogenicrs755271052GRCh38Chr 22, 50064199: 50064199
15MLC1NM_ 015166.3(MLC1): c.624_ 625delTG (p.Ala209Argfs)deletionLikely pathogenicrs1057517375GRCh38Chr 22, 50074305: 50074306
16MLC1NM_ 015166.3(MLC1): c.839C> T (p.Ser280Leu)SNVPathogenicrs121908341GRCh37Chr 22, 50506917: 50506917
17MLC1NM_ 015166.3(MLC1): c.278C> T (p.Ser93Leu)SNVPathogenicrs80358245GRCh37Chr 22, 50518816: 50518816
18MLC1MLC1, 7-BP DEL, NT564deletionPathogenic
19MLC1MLC1, IVS10AS, A-G, -2SNVPathogenic
20MLC1NM_ 015166.3(MLC1): c.423C> A (p.Asn141Lys)SNVPathogenicrs121908343GRCh37Chr 22, 50518347: 50518347
21MLC1NM_ 015166.3(MLC1): c.422A> G (p.Asn141Ser)SNVPathogenicrs121908344GRCh37Chr 22, 50518348: 50518348
22MLC1NM_ 015166.3(MLC1): c.274C> T (p.Pro92Ser)SNVPathogenic/ Likely pathogenicrs121908345GRCh37Chr 22, 50518820: 50518820
23MLC1NM_ 015166.3(MLC1): c.594_ 597delCTCA (p.Tyr198Terfs)deletionPathogenicrs267607236GRCh37Chr 22, 50515270: 50515273
24MLC1NM_ 015166.3(MLC1): c.176G> A (p.Gly59Glu)SNVPathogenicrs80358242GRCh37Chr 22, 50523156: 50523156
25MLC1NM_ 015166.3(MLC1): c.135dupC (p.Cys46Leufs)duplicationPathogenicrs80358241GRCh37Chr 22, 50523197: 50523197
26MLC1MLC1, 17-BP DEL, G INSindelPathogenic
27MLC1NM_ 015166.3(MLC1): c.634G> A (p.Gly212Arg)SNVLikely pathogenicrs281875317GRCh37Chr 22, 50512725: 50512725
28MLC1NM_ 015166.3(MLC1): c.959C> A (p.Thr320Lys)SNVLikely pathogenicrs281875313GRCh37Chr 22, 50502563: 50502563

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 pathwaysScoreTop Affiliating Genes
19.6AQP4, ATP1B1
29.5ATP1B1, CLCN2
3
Show member pathways
9.2ATP1B1, 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:000590110.6ATP1B1, MLC1
2clathrin-coated vesicleGO:003013610.5MLC1, VTI1A
3apical plasma membraneGO:001632410.3ATP1B1, MLC1, TRPV4
4basolateral plasma membraneGO:001632310.2AQP4, ATP1B1, MLC1
5integral component of membraneGO:00160216.7AQP4, ATP1B1, BAMBI, CLCN2, HEPACAM, MCL1
6membraneGO:00160205.8AQP4, ATP1B1, BAMBI, CLCN2, HEPACAM, MCL1

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:004748410.6MLC1, TRPV4
2multicellular organismal water homeostasisGO:005089110.5AQP4, TRPV4
3ion transportGO:00068119.6ATP1B1, CLCN2, MLC1, TRPV4
4ion transmembrane transportGO:00342209.6AQP4, ATP1B1, CLCN2, TRPV4
5transportGO:00068108.0AQP4, ATP1B1, CLCN2, MLC1, TRPV4, VTI1A

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet