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

Aliases & Descriptions for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 54 23 50 24 25 56 29 13 69
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 23 50 24 25 56 66
Van Der Knaap Disease 23 24 25 66
Leukoencephalopathy with Swelling and Cysts 50 25 66
Lvm 50 25 66
Mlc 50 25 56
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 66 29
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 56
Megalencephaly-Cystic Leukodystrophy 50
Vacuolating Leukoencephalopathy 25
Megalencephalic Leukodystrophy 56
Van Der Knaap Syndrome 56
Mlc1 66
Vl 66

Characteristics:

Orphanet epidemiological data:

56
megalencephalic leukoencephalopathy with subcortical cysts
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 604004
Orphanet 56 ORPHA2478
UMLS via Orphanet 70 C1858854
ICD10 via Orphanet 34 E75.2
MedGen 40 C1858854
MeSH 42 D056784

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

NIH Rare Diseases : 50 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, seizures and macrocephaly. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1), and among its related pathways/superpathways are Ion channel transport and Bile secretion. The drugs Doxycycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are nervous system and vision/eye

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

UniProtKB/Swiss-Prot : 66 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 : 71 Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of... more...

GeneReviews: NBK1535

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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 29)
id Related Disease Score Top Affiliating Genes
1 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 12.4
2 megalencephalic leukoencephalopathy with subcortical cysts 2a 12.4
3 hepacam-related megalencephalic leukoencephalopathy with subcortical cysts 12.3
4 mlc1-related megalencephalic leukoencephalopathy with subcortical cysts 12.3
5 schizophrenia 11.4
6 visceral leishmaniasis 11.3
7 cerebral degeneration 11.0
8 aortic valve insufficiency 11.0
9 polycystic liver disease 11.0
10 hepatosplenic t-cell lymphoma 10.6
11 alexander disease 10.1
12 leukodystrophy 10.1
13 epilepsy 10.1
14 neuropathy 10.1
15 endotheliitis 9.8
16 creutzfeldt-jakob disease 9.7
17 digeorge syndrome 9.7
18 gastric cancer 9.7
19 leukemia 9.7
20 ischemia 9.7
21 lung cancer 9.7
22 intestinal disease 9.7
23 hepatocellular carcinoma 9.7
24 breast cancer 9.7
25 influenza 9.7
26 chronic lymphocytic leukemia 9.7
27 rheumatoid arthritis 9.7
28 myocardial infarction 9.7
29 microcephaly and chorioretinopathy, autosomal recessive, 1 8.4 AQP4 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 & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Symptoms by clinical synopsis from OMIM:

604004

Clinical features from OMIM:

604004

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 macrocephaly 32 HP:0000256
4 spasticity 32 HP:0001257
5 megalencephaly 32 HP:0001355
6 intellectual disability, mild 32 HP:0001256
7 motor delay 32 HP:0001270
8 diffuse spongiform leukoencephalopathy 32 HP:0006943
9 diffuse swelling of cerebral white matter 32 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 AQP4 CLCN2 FBLN1 HEPACAM MLC1 TRPV4
2 vision/eye MP:0005391 9.02 AQP4 CLCN2 FBLN1 TRPV4 VTI1A

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved 564-25-0 54671203
2 Anti-Bacterial Agents
3 Anti-Infective Agents
4 Antimalarials
5 Antiparasitic Agents
6 Antiprotozoal Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Protection of the Heart With Doxycycline During Coronary Artery Bypass Grafting Completed NCT00246740

Search NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

id Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 29 24
2 Megalencephalic Leukoencephalopathy with Subcortical Cysts 29 24 MLC1

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

39
Brain, Cortex, Temporal Lobe, Monocytes

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show top 50) (show all 67)
id Title Authors Year
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

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

66 (show all 15)
id Symbol AA change Variation ID SNP ID
1 MLC1 p.Ser93Leu VAR_011699 rs80358245
2 MLC1 p.Thr118Arg VAR_011700 rs281875316
3 MLC1 p.Gly212Arg VAR_011701 rs281875317
4 MLC1 p.Ser280Leu VAR_011702 rs121908341
5 MLC1 p.Gly59Glu VAR_017438 rs80358242
6 MLC1 p.Pro92Ser VAR_017439 rs121908345
7 MLC1 p.Asn141Lys VAR_017440 rs121908343
8 MLC1 p.Asn141Ser VAR_017441 rs121908344
9 MLC1 p.Ser69Leu VAR_067762 rs281875309
10 MLC1 p.Met80Ile VAR_067763 rs281875310
11 MLC1 p.Arg84Cys VAR_067764 rs281875311
12 MLC1 p.Cys125Arg VAR_067765 rs281875314
13 MLC1 p.Ala245Pro VAR_067766 rs281875312
14 MLC1 p.Ser246Arg VAR_067767 rs281875315
15 MLC1 p.Thr320Lys VAR_067768 rs281875313

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

6 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1 MLC1 NM_015166.3(MLC1): c.839C> T (p.Ser280Leu) single nucleotide variant Pathogenic rs121908341 GRCh37 Chromosome 22, 50506917: 50506917
2 MLC1 NM_015166.3(MLC1): c.278C> T (p.Ser93Leu) single nucleotide variant Pathogenic rs80358245 GRCh37 Chromosome 22, 50518816: 50518816
3 MLC1 MLC1, 7-BP DEL, NT564 deletion Pathogenic
4 MLC1 MLC1, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
5 MLC1 NM_015166.3(MLC1): c.423C> A (p.Asn141Lys) single nucleotide variant Pathogenic rs121908343 GRCh37 Chromosome 22, 50518347: 50518347
6 MLC1 NM_015166.3(MLC1): c.422A> G (p.Asn141Ser) single nucleotide variant Pathogenic rs121908344 GRCh37 Chromosome 22, 50518348: 50518348
7 MLC1 NM_015166.3(MLC1): c.274C> T (p.Pro92Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908345 GRCh37 Chromosome 22, 50518820: 50518820
8 MLC1 NM_015166.3(MLC1): c.594_597delCTCA (p.Tyr198Terfs) deletion Pathogenic rs267607236 GRCh37 Chromosome 22, 50515270: 50515273
9 MLC1 NM_015166.3(MLC1): c.176G> A (p.Gly59Glu) single nucleotide variant Pathogenic rs80358242 GRCh37 Chromosome 22, 50523156: 50523156
10 MLC1 NM_015166.3(MLC1): c.135dupC (p.Cys46Leufs) duplication Pathogenic rs80358241 GRCh37 Chromosome 22, 50523197: 50523197
11 MLC1 MLC1, 17-BP DEL, G INS indel Pathogenic
12 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Pathogenic rs80358243 GRCh37 Chromosome 22, 50521612: 50521612
13 MLC1 NM_015166.3(MLC1): c.298_423+108del deletion Pathogenic rs398102376 GRCh37 Chromosome 22, 50518239: 50518796
14 MLC1 NM_015166.3(MLC1): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs281875309 GRCh37 Chromosome 22, 50521574: 50521574
15 MLC1 NM_015166.3(MLC1): c.634G> A (p.Gly212Arg) single nucleotide variant Likely pathogenic rs281875317 GRCh37 Chromosome 22, 50512725: 50512725
16 MLC1 NM_015166.3(MLC1): c.959C> A (p.Thr320Lys) single nucleotide variant Likely pathogenic rs281875313 GRCh37 Chromosome 22, 50502563: 50502563
17 MLC1 NM_015166.3(MLC1): c.714+1G> A single nucleotide variant Likely pathogenic rs761620701 GRCh38 Chromosome 22, 50074215: 50074215
18 MLC1 NM_015166.3(MLC1): c.324delT (p.Asn110Thrfs) deletion Likely pathogenic rs786204747 GRCh38 Chromosome 22, 50080017: 50080017
19 MLC1 NM_015166.3(MLC1): c.223delG (p.Val75Cysfs) deletion Pathogenic rs794729233 GRCh38 Chromosome 22, 50083128: 50083128
20 MLC1 NM_015166.3(MLC1): c.973C> T (p.Gln325Ter) single nucleotide variant Likely pathogenic rs1057516465 GRCh38 Chromosome 22, 50064120: 50064120
21 MLC1 NM_015166.3(MLC1): c.895-1G> C single nucleotide variant Likely pathogenic rs755271052 GRCh38 Chromosome 22, 50064199: 50064199
22 MLC1 NM_015166.3(MLC1): c.624_625delTG (p.Ala209Argfs) deletion Likely pathogenic rs1057517375 GRCh38 Chromosome 22, 50074305: 50074306
23 MLC1 NM_015166.3(MLC1): c.525+1G> A single nucleotide variant Likely pathogenic rs769135961 GRCh37 Chromosome 22, 50515829: 50515829
24 MLC1 NM_015166.3(MLC1): c.449_455delTCCTGCT (p.Leu150Argfs) deletion Pathogenic rs1057517090 GRCh37 Chromosome 22, 50515900: 50515906
25 MLC1 NM_015166.3(MLC1): c.271_272delAT (p.Ile91Profs) deletion Likely pathogenic rs1057516336 GRCh37 Chromosome 22, 50518822: 50518823
26 MLC1 NM_015166.3(MLC1): c.136delT (p.Cys46Alafs) deletion Likely pathogenic rs1057516766 GRCh37 Chromosome 22, 50523196: 50523196
27 MLC1 NM_015166.3(MLC1): c.83dupA (p.Tyr28Terfs) duplication Likely pathogenic rs1057516286 GRCh37 Chromosome 22, 50523249: 50523249
28 MLC1 NM_015166.3(MLC1): c.67C> T (p.Gln23Ter) single nucleotide variant Likely pathogenic rs1057517228 GRCh37 Chromosome 22, 50523265: 50523265

Expression for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

Pathways for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 ATP1B1 CLCN2 TRPV4
2 11.01 AQP4 ATP1B1
3 10.33 ATP1B1 CLCN2

GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.85 AQP4 ATP1B1 BAMBI CLCN2 HEPACAM MCL1
2 apical plasma membrane GO:0016324 9.43 ATP1B1 MLC1 TRPV4
3 caveola GO:0005901 9.37 ATP1B1 MLC1
4 clathrin-coated vesicle GO:0030136 9.32 MLC1 VTI1A
5 integral component of membrane GO:0016021 9.32 AQP4 ATP1B1 BAMBI CLCN2 HEPACAM MCL1
6 basolateral plasma membrane GO:0016323 9.13 AQP4 ATP1B1 MLC1

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.73 AQP4 ATP1B1 CLCN2 MLC1 TRPV4 VTI1A
2 ion transport GO:0006811 9.62 ATP1B1 CLCN2 MLC1 TRPV4
3 ion transmembrane transport GO:0034220 9.26 AQP4 ATP1B1 CLCN2 TRPV4
4 multicellular organismal water homeostasis GO:0050891 9.16 AQP4 TRPV4
5 regulation of response to osmotic stress GO:0047484 8.62 MLC1 TRPV4

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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