LVM
MCID: MGL002
MIFTS: 49

Megalencephalic Leukoencephalopathy with Subcortical Cysts (LVM)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 11 24 19 42 58 28 5 43 14 75
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 11 19 42 58
Mlc 19 42 58
Leukoencephalopathy with Swelling and Cysts 19 42
Megalencephaly-Cystic Leukodystrophy 19 5
Van Der Knaap Disease 24 42
Lvm 19 42
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome 11
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 42
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts 38
Infantile Leukoencephalopathy and Megalencephaly 42
Megalencephaly-Cystic Leukodystrophy Syndrome 58
Vacuolating Leukoencephalopathy 42
Megalencephalic Leukodystrophy 58
Van Der Knaap Syndrome 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

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: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0080315
MeSH 43 C536141
SNOMED-CT 68 703536004
ICD10 via Orphanet 32 E75.2
UMLS via Orphanet 72 C1858854
Orphanet 58 ORPHA2478
UMLS 71 C1858854

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

MedlinePlus Genetics: 42 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 cells (neurons) 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.The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some people lose the ability to walk early in life and need wheelchair assistance, while others are able to walk unassisted well into adulthood. Minor head trauma can further impair movements and may lead to coma. Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty swallowing (dysphagia), and impaired speech (dysarthria). More than half of all people with this condition have recurrent seizures (epilepsy). Despite the widespread brain abnormalities, people with this condition typically have only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their signs and symptoms and genetic cause. Types 1 and 2A have different genetic causes but are nearly identical in signs and symptoms. Types 2A and 2B have the same genetic cause but the signs and symptoms of type 2B often begin to improve after one year. After improvement, individuals with type 2B usually have macrocephaly and may have intellectual disability.

MalaCards based summary: Megalencephalic Leukoencephalopathy with Subcortical Cysts, also known as vacuolating megalencephalic leukoencephalopathy with subcortical cysts, is related to megalencephalic leukoencephalopathy with subcortical cysts 2a and megalencephalic leukoencephalopathy with subcortical cysts 1, and has symptoms including ataxia, seizures and muscle spasticity. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (Modulator Of VRAC Current 1), and among its related pathways/superpathways are Sudden infant death syndrome (SIDS) susceptibility pathways and Miscellaneous transport and binding events. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are homeostasis/metabolism and nervous system

GARD: 19 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 genetic changes in the MLC1 gene. Types 2A and 2B are caused by genetic changes 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 some cases of MLC, the cause is unknown.

Orphanet: 58 A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

Disease Ontology: 11 A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.

Wikipedia: 75 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 1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b

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

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 megalencephalic leukoencephalopathy with subcortical cysts 2a 33.5 PLP1 HEPACAM
2 megalencephalic leukoencephalopathy with subcortical cysts 1 33.0 MLC1 KCNJ10 HEPACAM GJC2 EIF2B1 ASPA
3 leukodystrophy 31.3 PLP1 MLC1 HEPACAM GJC2 EIF2B1 ASPA
4 alexander disease 30.9 PLP1 KCNJ10 HEPACAM GJC2 AQP4
5 canavan disease 30.8 PLP1 HEPACAM GJC2 ASPA
6 megalencephalic leukoencephalopathy with subcortical cysts 2b 12.0
7 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development 12.0
8 spasticity 10.9
9 polycystic liver disease 1 with or without kidney cysts 10.8
10 megalencephaly 10.8
11 glioma susceptibility 1 10.7
12 neurodegeneration with brain iron accumulation 2a 10.6
13 aceruloplasminemia 10.6
14 brain edema 10.5
15 glutaric acidemia i 10.4
16 dystonia 10.4
17 arthrogryposis, renal dysfunction, and cholestasis 1 10.4
18 tatton-brown-rahman syndrome 10.3
19 pelizaeus-merzbacher-like disease 10.3 PLP1 GJC2
20 hypomyelinating leukoencephalopathy 10.3 PLP1 GJC2
21 dystonia 12 10.3
22 macrocephaly, benign familial 10.3
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
24 autism 10.3
25 ocular motor apraxia 10.3
26 anxiety 10.3
27 muscular dystrophy, congenital, lmna-related 10.3
28 stuttering 10.3
29 microcephaly 10.3
30 visual epilepsy 10.3
31 brain cancer 10.3
32 status epilepticus 10.3
33 epilepsy 10.3
34 gangliosidosis 10.3
35 psychotic disorder 10.3
36 tic disorder 10.3
37 glioblastoma 10.3
38 bipolar disorder 10.3
39 gm2 gangliosidosis 10.3
40 turner syndrome 10.3
41 hypokalemia 10.3
42 movement disease 10.3
43 peripheral nervous system disease 10.3
44 neuropathy 10.3
45 muscular dystrophy 10.3
46 hydrocele 10.3
47 cerebral atrophy 10.3
48 hypotonia 10.3
49 posttransplant acute limbic encephalitis 10.3
50 rare neurodegenerative disease 10.3

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

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:


ataxia; seizures; muscle spasticity

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ALDH1L1 AQP4 ASPA CLCN1 CLCN2 EIF2B1
2 no effect GR00402-S-2 10.17 ALDH1L1 AQP4 ASPA CLCN1 CLCN2 EIF2B1

MGI Mouse Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 ALDH1L1 AQP4 ASPA CLCN1 CLCN2 GJA1
2 nervous system MP:0003631 10.21 ALDH1L1 AQP4 ASPA CLCN1 CLCN2 GJA1
3 behavior/neurological MP:0005386 10 AQP4 ASPA CLCN1 CLCN2 GJA1 GJC2
4 hearing/vestibular/ear MP:0005377 9.86 AQP4 ASPA CLCN1 GJA1 KCNJ10 PLP1
5 reproductive system MP:0005389 9.73 AQP4 CLCN1 CLCN2 GJA1 IQCA1 LRRC8A
6 vision/eye MP:0005391 9.5 ALDH1L1 AQP4 ASPA CLCN1 CLCN2 GJA1

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369

Search NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Cochrane evidence based reviews: megalencephalic leukoencephalopathy with subcortical cysts

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

# Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 28 HEPACAM MLC1

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

MalaCards : Brain, Cortex, Temporal Lobe, Monocytes, Lung

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. 62 24 5
27322623 2016
2
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. 62 24 5
25497041 2015
3
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. 62 24 5
27081509 2014
4
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. 62 24 5
23793458 2013
5
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit. 62 24 5
22405205 2012
6
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. 62 24 5
16652334 2006
7
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. 62 24 5
16470554 2006
8
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. 62 24 5
15367490 2004
9
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. 62 24 5
15037685 2004
10
Megalencephalic leukoencephalopathy with subcortical cysts. 62 24 5
14572144 2003
11
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. 62 24 5
12189496 2002
12
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. 62 24 5
11935341 2002
13
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. 62 24 5
11254442 2001
14
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. 24 5
22006981 2011
15
Novel variants causing megalencephalic leukodystrophy in Sudanese families. 62 5
34504271 2022
16
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. 62 5
28588848 2017
17
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. 62 5
25767710 2015
18
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE. 62 5
26349194 2015
19
Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients. 62 5
24315536 2014
20
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. 62 5
23851226 2013
21
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. 62 5
22416245 2012
22
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. 62 5
21624973 2011
23
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy. 62 5
21555057 2011
24
Novel mutations of the MLC1 gene in Turkish patients. 62 5
21145992 2011
25
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). 62 5
21160490 2011
26
Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. 62 5
19168821 2009
27
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. 62 5
18757878 2008
28
Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature. 62 5
15832614 2005
29
Megalencephalic Leukoencephalopathy with Subcortical Cysts 62 5
20301707 2003
30
A common mutation and a novel mutation in Japanese patients with van der Knaap disease. 62 5
14615938 2003
31
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. 62 24
29466841 2018
32
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. 62 24
28840990 2017
33
HepaCAM associates with connexin 43 and enhances its localization in cellular junctions. 62 24
27819278 2016
34
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect. 62 24
27389245 2016
35
MLC1 protein: a likely link between leukodystrophies and brain channelopathies. 62 24
25883547 2015
36
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy. 62 24
25044933 2014
37
Disease variants in genomes of 44 centenarians. 5
25333069 2014
38
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. 62 24
24647135 2014
39
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 62 24
23079554 2012
40
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations. 5
22737209 2012
41
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. 62 24
21440627 2011
42
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. 62 24
21419380 2011
43
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. 62 24
17628813 2007
44
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. 62 24
17236107 2006
45
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. 62 24
17077634 2006
46
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. 62 24
12973663 2003
47
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. 5
12939431 2003
48
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? 62 24
12497630 2003
49
Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls. 24
28327445 2017
50
Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model. 24
28695146 2017

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

5 (show top 50) (show all 353)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MLC1 NM_015166.4(MLC1):c.895-2A>G SNV Pathogenic
4716 rs1183818307 GRCh37: 22:50502629-50502629
GRCh38: 22:50064200-50064200
2 MLC1 NM_015166.4(MLC1):c.423C>A (p.Asn141Lys) SNV Pathogenic
4717 rs121908343 GRCh37: 22:50518347-50518347
GRCh38: 22:50079918-50079918
3 MLC1 NM_015166.4(MLC1):c.422A>G (p.Asn141Ser) SNV Pathogenic
4718 rs121908344 GRCh37: 22:50518348-50518348
GRCh38: 22:50079919-50079919
4 MLC1 NM_015166.4(MLC1):c.223del (p.Val75fs) DEL Pathogenic
202208 rs794729233 GRCh37: 22:50521557-50521557
GRCh38: 22:50083128-50083128
5 MLC1 NM_015166.4(MLC1):c.617G>T (p.Gly206Val) SNV Pathogenic
242875 rs1114167286 GRCh37: 22:50512742-50512742
GRCh38: 22:50074313-50074313
6 MLC1 NM_015166.4(MLC1):c.448del (p.Leu150fs) DEL Pathogenic
556409 rs1555967227 GRCh37: 22:50515907-50515907
GRCh38: 22:50077478-50077478
7 MLC1 NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) SNV Pathogenic
872980 rs1436214826 GRCh37: 22:50521597-50521597
GRCh38: 22:50083168-50083168
8 MLC1 NM_015166.4(MLC1):c.368C>T (p.Thr123Ile) SNV Pathogenic
1332811 GRCh37: 22:50518402-50518402
GRCh38: 22:50079973-50079973
9 MLC1 NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) SNV Pathogenic
Pathogenic
31622 rs281875309 GRCh37: 22:50521574-50521574
GRCh38: 22:50083145-50083145
10 MLC1 NM_015166.4(MLC1):c.754dup (p.Cys252fs) DUP Pathogenic
947987 rs757250956 GRCh37: 22:50508972-50508973
GRCh38: 22:50070543-50070544
11 MLC1 NM_015166.4(MLC1):c.736del (p.Ser246fs) DEL Pathogenic
1691319 GRCh37: 22:50508991-50508991
GRCh38: 22:50070562-50070562
12 MLC1 NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) DEL Pathogenic
Pathogenic/Likely Pathogenic
4720 rs267607236 GRCh37: 22:50515270-50515273
GRCh38: 22:50076841-50076844
13 MLC1 NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) SNV Pathogenic
Likely Pathogenic
4719 rs121908345 GRCh37: 22:50518820-50518820
GRCh38: 22:50080391-50080391
14 MLC1 NM_015166.4(MLC1):c.701G>A (p.Trp234Ter) SNV Pathogenic
843939 rs781004589 GRCh37: 22:50512658-50512658
GRCh38: 22:50074229-50074229
15 MLC1 NM_015166.4(MLC1):c.136del (p.Cys46fs) DEL Pathogenic
Likely Pathogenic
370785 rs1057516766 GRCh37: 22:50523196-50523196
GRCh38: 22:50084767-50084767
16 MLC1 NM_015166.4(MLC1):c.908_914del (p.Val303fs) DEL Pathogenic
1071728 GRCh37: 22:50502608-50502614
GRCh38: 22:50064179-50064185
17 MLC1 NM_015166.4(MLC1):c.449_455del (p.Leu150fs) DEL Pathogenic
371207 rs1057517090 GRCh37: 22:50515900-50515906
GRCh38: 22:50077471-50077477
18 MLC1 NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs) INDEL Pathogenic
972489 rs2062079566 GRCh37: 22:50518417-50518433
GRCh38: 22:50079988-50080004
19 MLC1 NM_015166.4(MLC1):c.135dup (p.Cys46fs) DUP Pathogenic
Pathogenic
4722 rs80358241 GRCh37: 22:50523196-50523197
GRCh38: 22:50084767-50084768
20 MLC1 NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) SNV Pathogenic
1455282 GRCh37: 22:50506875-50506875
GRCh38: 22:50068446-50068446
21 MLC1 NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) SNV Pathogenic
Likely Pathogenic
4721 rs80358242 GRCh37: 22:50523156-50523156
GRCh38: 22:50084727-50084727
22 MLC1 NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) SNV Pathogenic/Likely Pathogenic
68794 rs281875317 GRCh37: 22:50512725-50512725
GRCh38: 22:50074296-50074296
23 MLC1 NM_015166.4(MLC1):c.423+1G>A SNV Likely Pathogenic
857476 rs752428321 GRCh37: 22:50518346-50518346
GRCh38: 22:50079917-50079917
24 MLC1 NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) SNV Likely Pathogenic
1162193 rs1289520784 GRCh37: 22:50521531-50521531
GRCh38: 22:50083102-50083102
25 MLC1 NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg) SNV Likely Pathogenic
552370 rs1555962581 GRCh37: 22:50500014-50500014
GRCh38: 22:50061585-50061585
26 MLC1 NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) SNV Likely Pathogenic
553381 rs281875317 GRCh37: 22:50512725-50512725
GRCh38: 22:50074296-50074296
27 MLC1 NM_015166.4(MLC1):c.321+1G>T SNV Likely Pathogenic
558348 rs765879182 GRCh37: 22:50518772-50518772
GRCh38: 22:50080343-50080343
28 MLC1 NM_015166.4(MLC1):c.1059+1G>A SNV Likely Pathogenic
558425 rs1555963392 GRCh37: 22:50502462-50502462
GRCh38: 22:50064033-50064033
29 MLC1 NM_015166.4(MLC1):c.423+2dup DUP Likely Pathogenic
558618 rs1555967668 GRCh37: 22:50518344-50518345
GRCh38: 22:50079915-50079916
30 HEPACAM NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys) SNV Likely Pathogenic
590970 rs1565339091 GRCh37: 11:124794692-124794692
GRCh38: 11:124924796-124924796
31 MLC1 NM_015166.4(MLC1):c.321+1G>A SNV Likely Pathogenic
550431 rs765879182 GRCh37: 22:50518772-50518772
GRCh38: 22:50080343-50080343
32 MLC1 NM_015166.4(MLC1):c.42del (p.Met15fs) DEL Likely Pathogenic
552049 rs1555968785 GRCh37: 22:50523290-50523290
GRCh38: 22:50084861-50084861
33 MLC1 NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) SNV Likely Pathogenic
552088 rs764754702 GRCh37: 22:50502619-50502619
GRCh38: 22:50064190-50064190
34 MLC1 NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) SNV Likely Pathogenic
370408 rs1057516465 GRCh37: 22:50502549-50502549
GRCh38: 22:50064120-50064120
35 MLC1 NM_015166.4(MLC1):c.271_272del (p.Ile91fs) DEL Likely Pathogenic
370234 rs1057516336 GRCh37: 22:50518822-50518823
GRCh38: 22:50080393-50080394
36 MLC1 NM_015166.4(MLC1):c.624_625del (p.Ala209fs) DEL Likely Pathogenic
371571 rs1057517375 GRCh37: 22:50512734-50512735
GRCh38: 22:50074305-50074306
37 MLC1 NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) SNV Likely Pathogenic
371381 rs1057517228 GRCh37: 22:50523265-50523265
GRCh38: 22:50084836-50084836
38 MLC1 NM_015166.4(MLC1):c.895-1G>C SNV Likely Pathogenic
371564 rs755271052 GRCh37: 22:50502628-50502628
GRCh38: 22:50064199-50064199
39 MLC1 NM_015166.4(MLC1):c.83dup (p.Tyr28Ter) DUP Likely Pathogenic
370169 rs1057516286 GRCh37: 22:50523248-50523249
GRCh38: 22:50084819-50084820
40 MLC1 NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) SNV Likely Pathogenic
68797 rs281875313 GRCh37: 22:50502563-50502563
GRCh38: 22:50064134-50064134
41 MLC1 NM_015166.4(MLC1):c.714+1G>A SNV Likely Pathogenic
188980 rs761620701 GRCh37: 22:50512644-50512644
GRCh38: 22:50074215-50074215
42 MLC1 NM_015166.4(MLC1):c.251G>A (p.Arg84His) SNV Likely Pathogenic
1331500 GRCh37: 22:50521529-50521529
GRCh38: 22:50083100-50083100
43 MLC1 NM_015166.4(MLC1):c.423+1G>T SNV Likely Pathogenic
1067995 GRCh37: 22:50518346-50518346
GRCh38: 22:50079917-50079917
44 MLC1 NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) SNV Likely Pathogenic
68791 rs281875311 GRCh37: 22:50521530-50521530
GRCh38: 22:50083101-50083101
45 MLC1 NM_015166.4(MLC1):c.324del (p.Asn110fs) DEL Likely Pathogenic
189169 rs786204747 GRCh37: 22:50518446-50518446
GRCh38: 22:50080017-50080017
46 MLC1 NM_015166.4(MLC1):c.525+1G>A SNV Likely Pathogenic
371509 rs769135961 GRCh37: 22:50515829-50515829
GRCh38: 22:50077400-50077400
47 MLC1 NM_015166.4(MLC1):c.383G>A (p.Trp128Ter) SNV Likely Pathogenic
1724083 GRCh37: 22:50518387-50518387
GRCh38: 22:50079958-50079958
48 MLC1 NM_015166.4(MLC1):c.596C>G (p.Ser199Ter) SNV Likely Pathogenic
1726207 GRCh37: 22:50515271-50515271
GRCh38: 22:50076842-50076842
49 MLC1 NM_015166.4(MLC1):c.848del (p.Ile283fs) DEL Likely Pathogenic
1725466 GRCh37: 22:50506908-50506908
GRCh38: 22:50068479-50068479
50 MLC1 NM_015166.4(MLC1):c.592del (p.Tyr198fs) DEL Likely Pathogenic
1725746 GRCh37: 22:50515275-50515275
GRCh38: 22:50076846-50076846

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:

# Super pathways Score Top Affiliating Genes
1 11.33 PLP1 GJA1 AQP4
2 10.04 LRRC8C LRRC8A

GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005887 10.03 AQP4 CLCN1 CLCN2 GJA1 KCNJ10 LRRC8A
2 plasma membrane GO:0005886 10.03 AQP4 CLCN1 CLCN2 GJA1 KCNJ10 LRRC8A
3 membrane GO:0016020 9.9 AQP4 CLCN1 CLCN2 GJA1 GJC2 GPR37L1
4 membrane GO:0016021 9.9 AQP4 CLCN1 CLCN2 GJA1 GJC2 GPR37L1
5 ion channel complex GO:0034702 9.46 LRRC8C LRRC8A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 monoatomic ion transmembrane transport GO:0034220 9.92 TRPV4 KCNJ10 GJA1 CLCN2
2 transmembrane transport GO:0055085 9.92 TRPV4 GJC2 GJA1 CLCN2 CLCN1 AQP4
3 cellular response to osmotic stress GO:0071470 9.84 TRPV4 LRRC8C
4 multicellular organismal water homeostasis GO:0050891 9.81 TRPV4 AQP4
5 aspartate transmembrane transport GO:0015810 9.8 LRRC8C LRRC8A
6 protein hexamerization GO:0034214 9.78 LRRC8C LRRC8A
7 taurine transport GO:0015734 9.76 LRRC8C LRRC8A
8 hyperosmotic salinity response GO:0042538 9.73 TRPV4 AQP4
9 cell communication by electrical coupling GO:0010644 9.71 GJC2 GJA1
10 cyclic-GMP-AMP transmembrane import across plasma membrane GO:0140361 9.67 LRRC8A LRRC8C
11 regulation of response to osmotic stress GO:0047484 9.56 TRPV4 MLC1
12 positive regulation of calcium ion transmembrane transport GO:1904427 9.46 PLP1 GJC2
13 central nervous system myelination GO:0022010 9.43 PLP1 KCNJ10 ASPA
14 monoatomic ion transport GO:0006811 9.23 TRPV4 MLC1 LRRC8C LRRC8A KCNJ10 CLCN2

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated chloride channel activity GO:0005247 9.46 CLCN2 CLCN1
2 volume-sensitive anion channel activity GO:0005225 9.26 LRRC8C LRRC8A
3 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.92 GJC2 GJA1

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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