MCID: MGL009
MIFTS: 40

Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 57 29 6 40
Megalencephalic Leukoencephalopathy with Subcortical Cysts 57 24 53 25 59 37 29 13 6 73
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 57 53 25 59 75
Leukoencephalopathy with Swelling and Cysts 57 53 25 75
Van Der Knaap Disease 57 24 25 75
Lvm 57 53 25 75
Mlc 53 25 59
Mlc1 57 75
Vl 57 75
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 25
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 75
Infantile Leukoencephalopathy and Megalencephaly 25
Megalencephaly-Cystic Leukodystrophy Syndrome 59
Megalencephaly-Cystic Leukodystrophy 53
Vacuolating Leukoencephalopathy 25
Megalencephalic Leukodystrophy 59
Van Der Knaap Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
megalencephalic leukoencephalopathy with subcortical cysts
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
slow course of functional deterioration compared to severity of mri findings


HPO:

32
megalencephalic leukoencephalopathy with subcortical cysts 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Mlc2b. the penetrance of dominant hepacam pathogenic variants is reduced. the proportion of individuals with a pathogenic hepacam variant who exhibit or have exhibited clinical manifestations of mlc2b is not known. there is no evidence of a difference in penetrance based on sex...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604004
Orphanet 59 ORPHA2478
UMLS via Orphanet 74 C1858854
ICD10 via Orphanet 34 E75.2
MedGen 42 C1858854
MeSH 44 D056784
KEGG 37 H00875
UMLS 73 C1858854

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Megalencephalic Leukoencephalopathy with Subcortical Cysts 1, also known as megalencephalic leukoencephalopathy with subcortical cysts, is related to schizophrenia and maternal uniparental disomy of chromosome 22, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 is MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1). Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are macrocephaly and seizures

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 : 57 Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline (summary by Lopez-Hernandez et al., 2011). (604004)

UniProtKB/Swiss-Prot : 75 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.

GeneReviews: NBK1535

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Diseases in the Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a family:

Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 schizophrenia 11.4
2 maternal uniparental disomy of chromosome 22 11.3
3 visceral leishmaniasis 11.3
4 basal ganglia disease 11.1
5 polycystic liver disease 1 with or without kidney cysts 11.0
6 pelizaeus-merzbacher disease 11.0
7 leukoencephalopathy with vanishing white matter 11.0
8 cerebral degeneration 11.0
9 aortic valve insufficiency 11.0
10 megalencephaly 11.0
11 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 11.0
12 hepatosplenic t-cell lymphoma 10.8
13 epilepsy 10.2
14 leukodystrophy 10.1
15 breast cancer 9.9
16 prostate cancer 9.9
17 prostatitis 9.9
18 endotheliitis 9.9
19 hepatocellular carcinoma 9.8
20 creutzfeldt-jakob disease 9.8
21 lung cancer 9.8
22 alzheimer disease 9.7
23 leukemia, chronic lymphocytic 2 9.7
24 leukemia, chronic lymphocytic 9.7
25 rheumatoid arthritis 9.7
26 myasthenia gravis 9.7
27 myocardial infarction 9.7
28 gastric cancer 9.7
29 arthritis 9.7
30 leukemia 9.7
31 rabies 9.7
32 peripheral nervous system disease 9.7
33 inferior myocardial infarction 9.7
34 neuronitis 9.7
35 influenza 9.7
36 neuropathy 9.7
37 leishmaniasis 9.7
38 haemophilus influenzae 9.7
39 leukemia, b-cell, chronic 9.7
40 myasthenia gravis congenital 9.7
41 depression 9.7

Graphical network of the top 20 diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:



Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Symptoms & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
seizures
ataxia
spasticity
megalencephaly
diffuse spongiform leukoencephalopathy
more

Clinical features from OMIM:

604004

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
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 1:


ataxia, muscle spasticity, seizures

MGI Mouse Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 HEPACAM MLC1

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Search Clinical Trials , NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

# Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 29 HEPACAM MLC1
2 Megalencephalic Leukoencephalopathy with Subcortical Cysts 29 HEPACAM MLC1

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

41
Brain, Temporal Lobe, Cortex, Monocytes

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

(show top 50) (show all 70)
# Title Authors Year
1
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. ( 29466841 )
2018
2
A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China. ( 28588848 )
2017
3
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. ( 28840990 )
2017
4
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. ( 27322623 )
2016
5
Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder. ( 27293337 )
2016
6
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes. ( 26908604 )
2016
7
Megalencephalic leukoencephalopathy with subcortical cysts. ( 27015955 )
2016
8
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE. ( 26349194 )
2015
9
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. ( 25497041 )
2015
10
A Mutation-Positive Child of Megalencephalic Leukoencephalopathy With Subcortical Cysts: Classical ImagingA Findings. ( 26365204 )
2015
11
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain. ( 25796299 )
2015
12
[Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts]. ( 25919557 )
2015
13
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation. ( 25742591 )
2015
14
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. ( 25767710 )
2015
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
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. ( 27081509 )
2014
18
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. ( 24824219 )
2014
19
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis. ( 24561067 )
2014
20
Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts inA Egyptian Patients. ( 24315536 )
2014
21
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. ( 23851226 )
2013
22
Megalencephalic leukoencephalopathy with subcortical cysts. ( 24273671 )
2013
23
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. ( 24202401 )
2013
24
An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts. ( 23485252 )
2013
25
A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis. ( 22382567 )
2012
26
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. ( 22416245 )
2012
27
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T&amp;gt;G) abrogated in vitro using an antisense morpholino oligonucleotide. ( 22552818 )
2012
28
Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family. ( 22919198 )
2012
29
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
30
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. ( 23079554 )
2012
31
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
32
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). ( 21160490 )
2011
33
Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases. ( 21977097 )
2011
34
A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). ( 21307857 )
2011
35
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. ( 21624973 )
2011
36
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. ( 21419380 )
2011
37
Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. ( 20187760 )
2010
38
Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. ( 20560255 )
2010
39
Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. ( 19168821 )
2009
40
Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. ( 18821826 )
2009
41
Megalencephalic leukoencephalopathy with subcortical cysts in an adult. ( 19402576 )
2009
42
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. ( 18757878 )
2008
43
[Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases]. ( 18772751 )
2008
44
SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. ( 17507156 )
2007
45
Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India. ( 18040118 )
2007
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
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. ( 17077634 )
2006
49
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. ( 16652334 )
2006
50
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. ( 17236107 )
2006

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

75 (show all 15)
# 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 1:

6
(show top 50) (show all 295)
# 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.839C> T (p.Ser280Leu) single nucleotide variant Pathogenic rs121908341 GRCh38 Chromosome 22, 50068488: 50068488
3 MLC1 NM_015166.3(MLC1): c.278C> T (p.Ser93Leu) single nucleotide variant Likely pathogenic rs80358245 GRCh37 Chromosome 22, 50518816: 50518816
4 MLC1 NM_015166.3(MLC1): c.278C> T (p.Ser93Leu) single nucleotide variant Likely pathogenic rs80358245 GRCh38 Chromosome 22, 50080387: 50080387
5 MLC1 MLC1, 7-BP DEL, NT564 deletion Pathogenic
6 MLC1 MLC1, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
7 MLC1 NM_015166.3(MLC1): c.423C> A (p.Asn141Lys) single nucleotide variant Pathogenic rs121908343 GRCh37 Chromosome 22, 50518347: 50518347
8 MLC1 NM_015166.3(MLC1): c.423C> A (p.Asn141Lys) single nucleotide variant Pathogenic rs121908343 GRCh38 Chromosome 22, 50079918: 50079918
9 MLC1 NM_015166.3(MLC1): c.422A> G (p.Asn141Ser) single nucleotide variant Pathogenic rs121908344 GRCh37 Chromosome 22, 50518348: 50518348
10 MLC1 NM_015166.3(MLC1): c.422A> G (p.Asn141Ser) single nucleotide variant Pathogenic rs121908344 GRCh38 Chromosome 22, 50079919: 50079919
11 MLC1 NM_015166.3(MLC1): c.274C> T (p.Pro92Ser) single nucleotide variant Likely pathogenic rs121908345 GRCh37 Chromosome 22, 50518820: 50518820
12 MLC1 NM_015166.3(MLC1): c.274C> T (p.Pro92Ser) single nucleotide variant Likely pathogenic rs121908345 GRCh38 Chromosome 22, 50080391: 50080391
13 MLC1 NM_015166.3(MLC1): c.594_597delCTCA (p.Tyr198Terfs) deletion Pathogenic rs267607236 GRCh37 Chromosome 22, 50515270: 50515273
14 MLC1 NM_015166.3(MLC1): c.594_597delCTCA (p.Tyr198Terfs) deletion Pathogenic rs267607236 GRCh38 Chromosome 22, 50076841: 50076844
15 MLC1 NM_015166.3(MLC1): c.176G> A (p.Gly59Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80358242 GRCh37 Chromosome 22, 50523156: 50523156
16 MLC1 NM_015166.3(MLC1): c.176G> A (p.Gly59Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80358242 GRCh38 Chromosome 22, 50084727: 50084727
17 MLC1 NM_015166.3(MLC1): c.135dupC (p.Cys46Leufs) duplication Pathogenic rs80358241 GRCh37 Chromosome 22, 50523197: 50523197
18 MLC1 NM_015166.3(MLC1): c.135dupC (p.Cys46Leufs) duplication Pathogenic rs80358241 GRCh38 Chromosome 22, 50084768: 50084768
19 MLC1 MLC1, 17-BP DEL, G INS indel Pathogenic
20 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Likely pathogenic rs80358243 GRCh37 Chromosome 22, 50521612: 50521612
21 MLC1 NM_015166.3(MLC1): c.178-10T> A single nucleotide variant Likely pathogenic rs80358243 GRCh38 Chromosome 22, 50083183: 50083183
22 MLC1 NM_015166.3(MLC1): c.298_423+108del deletion Pathogenic rs398102376 GRCh37 Chromosome 22, 50518239: 50518796
23 MLC1 NM_015166.3(MLC1): c.298_423+108del deletion Pathogenic rs398102376 GRCh38 Chromosome 22, 50079810: 50080367
24 MLC1 NM_015166.3(MLC1): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs281875309 GRCh37 Chromosome 22, 50521574: 50521574
25 MLC1 NM_015166.3(MLC1): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs281875309 GRCh38 Chromosome 22, 50083145: 50083145
26 MLC1 NM_015166.3(MLC1): c.634G> A (p.Gly212Arg) single nucleotide variant Likely pathogenic rs281875317 GRCh37 Chromosome 22, 50512725: 50512725
27 MLC1 NM_015166.3(MLC1): c.634G> A (p.Gly212Arg) single nucleotide variant Likely pathogenic rs281875317 GRCh38 Chromosome 22, 50074296: 50074296
28 MLC1 NM_015166.3(MLC1): c.959C> A (p.Thr320Lys) single nucleotide variant Likely pathogenic rs281875313 GRCh37 Chromosome 22, 50502563: 50502563
29 MLC1 NM_015166.3(MLC1): c.959C> A (p.Thr320Lys) single nucleotide variant Likely pathogenic rs281875313 GRCh38 Chromosome 22, 50064134: 50064134
30 MLC1 NM_015166.3(MLC1): c.714+1G> A single nucleotide variant Likely pathogenic rs761620701 GRCh38 Chromosome 22, 50074215: 50074215
31 MLC1 NM_015166.3(MLC1): c.714+1G> A single nucleotide variant Likely pathogenic rs761620701 GRCh37 Chromosome 22, 50512644: 50512644
32 MLC1 NM_015166.3(MLC1): c.324delT (p.Asn110Thrfs) deletion Likely pathogenic rs786204747 GRCh38 Chromosome 22, 50080017: 50080017
33 MLC1 NM_015166.3(MLC1): c.324delT (p.Asn110Thrfs) deletion Likely pathogenic rs786204747 GRCh37 Chromosome 22, 50518446: 50518446
34 MLC1 NM_015166.3(MLC1): c.223delG (p.Val75Cysfs) deletion Pathogenic rs794729233 GRCh38 Chromosome 22, 50083128: 50083128
35 MLC1 NM_015166.3(MLC1): c.223delG (p.Val75Cysfs) deletion Pathogenic rs794729233 GRCh37 Chromosome 22, 50521557: 50521557
36 MLC1 NM_015166.3(MLC1): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs184241759 GRCh38 Chromosome 22, 50084838: 50084838
37 MLC1 NM_015166.3(MLC1): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs184241759 GRCh37 Chromosome 22, 50523267: 50523267
38 MLC1 NM_015166.3(MLC1): c.617G> T (p.Gly206Val) single nucleotide variant Pathogenic rs1114167286 GRCh37 Chromosome 22, 50512742: 50512742
39 MLC1 NM_015166.3(MLC1): c.617G> T (p.Gly206Val) single nucleotide variant Pathogenic rs1114167286 GRCh38 Chromosome 22, 50074313: 50074313
40 HEPACAM NM_152722.4(HEPACAM): c.*50C> G single nucleotide variant Likely benign rs192160991 GRCh38 Chromosome 11, 124921088: 124921088
41 HEPACAM NM_152722.4(HEPACAM): c.*50C> G single nucleotide variant Likely benign rs192160991 GRCh37 Chromosome 11, 124790984: 124790984
42 HEPACAM NM_152722.4(HEPACAM): c.971A> G (p.Asn324Ser) single nucleotide variant Likely benign rs116102273 GRCh38 Chromosome 11, 124921418: 124921418
43 HEPACAM NM_152722.4(HEPACAM): c.971A> G (p.Asn324Ser) single nucleotide variant Likely benign rs116102273 GRCh37 Chromosome 11, 124791314: 124791314
44 HEPACAM NM_152722.4(HEPACAM): c.877+14C> T single nucleotide variant Benign rs11826299 GRCh38 Chromosome 11, 124922731: 124922731
45 HEPACAM NM_152722.4(HEPACAM): c.877+14C> T single nucleotide variant Benign rs11826299 GRCh37 Chromosome 11, 124792627: 124792627
46 HEPACAM NM_152722.4(HEPACAM): c.652A> G (p.Met218Val) single nucleotide variant Benign rs10790715 GRCh38 Chromosome 11, 124923786: 124923786
47 HEPACAM NM_152722.4(HEPACAM): c.652A> G (p.Met218Val) single nucleotide variant Benign rs10790715 GRCh37 Chromosome 11, 124793682: 124793682
48 HEPACAM NM_152722.4(HEPACAM): c.618C> T (p.Arg206=) single nucleotide variant Benign rs10790716 GRCh38 Chromosome 11, 124923820: 124923820
49 HEPACAM NM_152722.4(HEPACAM): c.618C> T (p.Arg206=) single nucleotide variant Benign rs10790716 GRCh37 Chromosome 11, 124793716: 124793716
50 HEPACAM NM_152722.4(HEPACAM): c.363G> A (p.Glu121=) single nucleotide variant Likely benign rs112686308 GRCh38 Chromosome 11, 124924792: 124924792

Expression for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Search GEO for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1.

Pathways for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.62 HEPACAM MLC1

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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