MLC1
MCID: MGL009
MIFTS: 48

Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 (MLC1)

Categories: Genetic diseases, Neuronal diseases, Rare 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 56 12 29 6 15 39
Megalencephalic Leukoencephalopathy with Subcortical Cysts 56 12 24 52 25 58 29 13 6 43 15 71
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 56 12 52 25 58 73
Leukoencephalopathy with Swelling and Cysts 56 12 52 25 73
Van Der Knaap Disease 56 12 24 25 73
Lvm 56 52 25 73
Mlc 52 25 58
Mlc1 56 73
Vl 56 73
Megalencephalic Leukodystrophy\\megalencephaly-Cystic Leukodystorphy Syndrome 12
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 25
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 73
Infantile Leukoencephalopathy and Megalencephaly 25
Megalencephaly-Cystic Leukodystrophy Syndrome 58
Megalencephaly-Cystic Leukodystrophy 52
Vacuolating Leukoencephalopathy 25
Megalencephalic Leukodystrophy 58
Van Der Knaap Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
megalencephalic leukoencephalopathy with subcortical cysts
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
megalencephalic leukoencephalopathy with subcortical cysts 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


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 12 DOID:0080315 DOID:0080316
OMIM 56 604004
OMIM Phenotypic Series 56 PS604004
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 72 C1858854
Orphanet 58 ORPHA2478
MedGen 41 C1858854
UMLS 71 C1858854

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

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. 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 1, also known as megalencephalic leukoencephalopathy with subcortical cysts, is related to leukodystrophy and megalencephalic leukoencephalopathy with subcortical cysts 2a, and has symptoms including seizures, ataxia and muscle spasticity. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 is MLC1 (Modulator Of VRAC Current 1). Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are macrocephaly and seizures

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 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 : 74 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 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 top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 32.5 PLP1 MLC1 HEPACAM EIF2B1 CLCN2
2 megalencephalic leukoencephalopathy with subcortical cysts 2a 30.0 PLP1 HEPACAM
3 schizophrenia 11.7
4 visceral leishmaniasis 11.6
5 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 11.6
6 polycystic liver disease 1 with or without kidney cysts 11.6
7 maternal uniparental disomy 11.5
8 maternal uniparental disomy of chromosome 22 11.5
9 basal ganglia disease 11.4
10 tinea imbricata 11.2
11 hepatosplenic t-cell lymphoma 11.1
12 kala-azar 1 10.6
13 leishmaniasis 10.6
14 alacrima, achalasia, and mental retardation syndrome 10.4
15 dystonia 10.4
16 ataxia and polyneuropathy, adult-onset 10.4
17 autosomal recessive disease 10.4
18 spasticity 10.4
19 lyme disease 10.4
20 cerebral atrophy 10.3
21 autism 10.3
22 ocular motor apraxia 10.3
23 stuttering 10.3
24 microcephaly 10.3
25 visual epilepsy 10.3
26 status epilepticus 10.3
27 tic disorder 10.3
28 dysphagia 10.3
29 hypotonia 10.3
30 seizure disorder 10.3
31 posttransplant acute limbic encephalitis 10.3
32 rare neurodegenerative disease 10.3
33 brain edema 10.3
34 graft-versus-host disease 10.3
35 haemophilus influenzae 10.2
36 pre-eclampsia 10.2
37 eclampsia 10.2
38 rapidly involuting congenital hemangioma 10.2
39 combined t cell and b cell immunodeficiency 10.2
40 macrocephaly/megalencephaly syndrome, autosomal recessive 10.2
41 major affective disorder 8 10.2
42 major affective disorder 9 10.2
43 bipolar disorder 10.2
44 megalencephaly 10.2
45 lymphocytic leukemia 10.2
46 hemangioma 10.2
47 tremor 10.2
48 aplastic anemia 10.2
49 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
50 helix syndrome 10.2

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

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 seizures 31 HP:0001250
3 spasticity 31 HP:0001257
4 megalencephaly 31 HP:0001355
5 ataxia 31 HP:0001251
6 intellectual disability, mild 31 HP:0001256
7 motor delay 31 HP:0001270
8 diffuse spongiform leukoencephalopathy 31 HP:0006943
9 diffuse swelling of cerebral white matter 31 HP:0007341

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

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

Clinical features from OMIM:

604004

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:


seizures, ataxia, muscle spasticity

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ABTB2 CLCN2 HAP1 HOXC10 LRMDA MLC1
2 nervous system MP:0003631 9.32 ALDH1L1 CLCN2 GPM6A HAP1 HEPACAM HOXC10

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

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

Cochrane evidence based reviews: megalencephalic leukoencephalopathy with subcortical cysts

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:

40
Brain, Temporal Lobe, Cortex, T Cells, Lung, B Cells, Monocytes

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. 61 24 56 6
21419380 2011
2
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. 61 24 56 6
11254442 2001
3
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. 61 56 6
21624973 2011
4
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. 61 24 6
12189496 2002
5
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. 61 24 6
11935341 2002
6
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. 24 56
9628190 1998
7
Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. 24 56
8841668 1996
8
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. 61 56
24824219 2014
9
Megalencephalic Leukoencephalopathy with Subcortical Cysts 61 6
20301707 2003
10
A common mutation and a novel mutation in Japanese patients with van der Knaap disease. 61 6
14615938 2003
11
Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. 61 56
10677334 2000
12
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. 61 24
29466841 2018
13
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. 61 24
28840990 2017
14
HepaCAM associates with connexin 43 and enhances its localization in cellular junctions. 61 24
27819278 2016
15
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect. 61 24
27389245 2016
16
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. 61 24
27322623 2016
17
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. 61 24
25497041 2015
18
MLC1 protein: a likely link between leukodystrophies and brain channelopathies. 61 24
25883547 2015
19
Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy. 61 24
25044933 2014
20
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. 61 24
24647135 2014
21
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. 61 24
27081509 2014
22
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. 61 24
23793458 2013
23
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 61 24
23079554 2012
24
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit. 61 24
22405205 2012
25
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. 61 24
21440627 2011
26
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. 61 24
17628813 2007
27
Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. 61 24
17236107 2006
28
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. 61 24
16652334 2006
29
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. 61 24
16470554 2006
30
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. 61 24
17077634 2006
31
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. 61 24
15367490 2004
32
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. 61 24
15037685 2004
33
Megalencephalic leukoencephalopathy with subcortical cysts. 61 24
14572144 2003
34
Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. 61 24
12973663 2003
35
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. 56
12939431 2003
36
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? 61 24
12497630 2003
37
Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings. 56
9258973 1997
38
Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. 56
9120220 1996
39
Megalencephalic leukodystrophy in an Asian Indian ethnic group. 56
8805171 1996
40
Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. 56
7695231 1995
41
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
42
Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model. 24
28695146 2017
43
Timing, rates and spectra of human germline mutation. 24
26656846 2016
44
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle. 24
25382142 2015
45
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. 24
22006981 2011
46
Stimulated gene expression profiles as a blood marker of major depressive disorder. 24
20471630 2010
47
GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system. 24
18293412 2008
48
MLC1 polymorphisms are specifically associated with periodic catatonia, a subgroup of chronic schizophrenia. 24
17210142 2007
49
Childhood white matter disorders: quantitative MR imaging and spectroscopy. 24
17057071 2006
50
MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. 24
15992519 2005

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1:

6 (show top 50) (show all 193) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MLC1 NM_015166.3(MLC1):c.223del (p.Val75fs)deletion Pathogenic 202208 rs794729233 22:50521557-50521557 22:50083128-50083128
2 MLC1 MLC1, 7-BP DEL, NT564deletion Pathogenic 4715
3 MLC1 NM_015166.3(MLC1):c.895-2A>GSNV Pathogenic 4716 22:50502629-50502629 22:50064200-50064200
4 MLC1 NM_015166.3(MLC1):c.423C>A (p.Asn141Lys)SNV Pathogenic 4717 rs121908343 22:50518347-50518347 22:50079918-50079918
5 MLC1 NM_015166.3(MLC1):c.422A>G (p.Asn141Ser)SNV Pathogenic 4718 rs121908344 22:50518348-50518348 22:50079919-50079919
6 MLC1 NM_015166.3(MLC1):c.594_597del (p.Ser197_Tyr198insTer)deletion Pathogenic 4720 rs267607236 22:50515270-50515273 22:50076841-50076844
7 MLC1 NM_015166.3(MLC1):c.135dup (p.Cys46fs)duplication Pathogenic 4722 rs80358241 22:50523196-50523197 22:50084767-50084768
8 MLC1 MLC1, 17-BP DEL, G INSindel Pathogenic 4723
9 MLC1 NM_015166.3(MLC1):c.298_423+108deldeletion Pathogenic 21523 rs1555967644 22:50518239-50518796 22:50079810-50080367
10 MLC1 NM_015166.3(MLC1):c.206C>T (p.Ser69Leu)SNV Pathogenic 31622 rs281875309 22:50521574-50521574 22:50083145-50083145
11 MLC1 NM_015166.3(MLC1):c.617G>T (p.Gly206Val)SNV Pathogenic 242875 rs1114167286 22:50512742-50512742 22:50074313-50074313
12 MLC1 NM_015166.3(MLC1):c.449_455del (p.Leu150fs)deletion Pathogenic 371207 rs1057517090 22:50515900-50515906 22:50077471-50077477
13 MLC1 NM_139202.2(MLC1):c.1087G>A (p.Asp363Asn)SNV Pathogenic 522910 rs779971307 22:50500059-50500059 22:50061630-50061630
14 MLC1 NM_015166.3(MLC1):c.448del (p.Leu150fs)deletion Pathogenic 556409 rs1555967227 22:50515907-50515907 22:50077478-50077478
15 MLC1 NM_015166.3(MLC1):c.176G>A (p.Gly59Glu)SNV Pathogenic/Likely pathogenic 4721 rs80358242 22:50523156-50523156 22:50084727-50084727
16 MLC1 NM_015166.3(MLC1):c.274C>T (p.Pro92Ser)SNV Likely pathogenic 4719 rs121908345 22:50518820-50518820 22:50080391-50080391
17 MLC1 NM_015166.3(MLC1):c.714+1G>ASNV Likely pathogenic 188980 rs761620701 22:50512644-50512644 22:50074215-50074215
18 MLC1 NM_015166.3(MLC1):c.324del (p.Asn110fs)deletion Likely pathogenic 189169 rs786204747 22:50518446-50518446 22:50080017-50080017
19 MLC1 NM_015166.3(MLC1):c.278C>T (p.Ser93Leu)SNV Likely pathogenic 4714 rs80358245 22:50518816-50518816 22:50080387-50080387
20 MLC1 NM_015166.3(MLC1):c.178-10T>ASNV Likely pathogenic 21522 rs80358243 22:50521612-50521612 22:50083183-50083183
21 MLC1 NM_015166.3(MLC1):c.634G>A (p.Gly212Arg)SNV Likely pathogenic 68794 rs281875317 22:50512725-50512725 22:50074296-50074296
22 MLC1 NM_015166.3(MLC1):c.959C>A (p.Thr320Lys)SNV Likely pathogenic 68797 rs281875313 22:50502563-50502563 22:50064134-50064134
23 MLC1 NM_015166.3(MLC1):c.271_272del (p.Ile91fs)deletion Likely pathogenic 370234 rs1057516336 22:50518822-50518823 22:50080393-50080394
24 MLC1 NM_015166.3(MLC1):c.136del (p.Cys46fs)deletion Likely pathogenic 370785 rs1057516766 22:50523196-50523196 22:50084767-50084767
25 MLC1 NM_015166.3(MLC1):c.83dup (p.Tyr28Ter)duplication Likely pathogenic 370169 rs1057516286 22:50523248-50523249 22:50084819-50084820
26 MLC1 NM_015166.3(MLC1):c.67C>T (p.Gln23Ter)SNV Likely pathogenic 371381 rs1057517228 22:50523265-50523265 22:50084836-50084836
27 MLC1 NM_015166.3(MLC1):c.973C>T (p.Gln325Ter)SNV Likely pathogenic 370408 rs1057516465 22:50502549-50502549 22:50064120-50064120
28 MLC1 NM_015166.3(MLC1):c.895-1G>CSNV Likely pathogenic 371564 rs755271052 22:50502628-50502628 22:50064199-50064199
29 MLC1 NM_015166.3(MLC1):c.624_625del (p.Ala209fs)deletion Likely pathogenic 371571 rs1057517375 22:50512734-50512735 22:50074305-50074306
30 MLC1 NM_015166.3(MLC1):c.525+1G>ASNV Likely pathogenic 371509 rs769135961 22:50515829-50515829 22:50077400-50077400
31 MLC1 NM_015166.3(MLC1):c.321+1G>ASNV Likely pathogenic 550431 rs765879182 22:50518772-50518772 22:50080343-50080343
32 MLC1 NM_015166.3(MLC1):c.903C>G (p.Tyr301Ter)SNV Likely pathogenic 552088 rs764754702 22:50502619-50502619 22:50064190-50064190
33 MLC1 NM_015166.3(MLC1):c.824C>A (p.Ala275Asp)SNV Likely pathogenic 554164 rs764669598 22:50506932-50506932 22:50068503-50068503
34 HEPACAM NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)SNV Likely pathogenic 590970 rs1565339091 11:124794692-124794692 11:124924796-124924796
35 MLC1 NM_015166.3(MLC1):c.1059+1G>ASNV Likely pathogenic 558425 rs1555963392 22:50502462-50502462 22:50064033-50064033
36 MLC1 NM_015166.3(MLC1):c.1132T>C (p.Ter378Arg)SNV Likely pathogenic 552370 rs1555962581 22:50500014-50500014 22:50061585-50061585
37 MLC1 NM_015166.3(MLC1):c.634G>C (p.Gly212Arg)SNV Likely pathogenic 553381 rs281875317 22:50512725-50512725 22:50074296-50074296
38 MLC1 NM_015166.3(MLC1):c.423+2dupduplication Likely pathogenic 558618 rs1555967668 22:50518344-50518345 22:50079915-50079916
39 MLC1 NM_015166.3(MLC1):c.321+1G>TSNV Likely pathogenic 558348 rs765879182 22:50518772-50518772 22:50080343-50080343
40 MLC1 NM_015166.3(MLC1):c.42del (p.Met15fs)deletion Likely pathogenic 552049 rs1555968785 22:50523290-50523290 22:50084861-50084861
41 MLC1 NM_015166.3(MLC1):c.95C>T (p.Ala32Val)SNV Conflicting interpretations of pathogenicity 555907 rs200382943 22:50523237-50523237 22:50084808-50084808
42 HEPACAM NM_152722.5(HEPACAM):c.288A>C (p.Arg96=)SNV Conflicting interpretations of pathogenicity 303334 rs36089266 11:124794763-124794763 11:124924867-124924867
43 HEPACAM NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)SNV Conflicting interpretations of pathogenicity 303331 rs201011094 11:124793743-124793743 11:124923847-124923847
44 MLC1 NM_015166.3(MLC1):c.1032C>T (p.Asn344=)SNV Conflicting interpretations of pathogenicity 342103 rs199707637 22:50502490-50502490 22:50064061-50064061
45 MLC1 NM_015166.3(MLC1):c.627C>T (p.Ala209=)SNV Conflicting interpretations of pathogenicity 342106 rs138153307 22:50512732-50512732 22:50074303-50074303
46 MLC1 NM_015166.3(MLC1):c.279G>A (p.Ser93=)SNV Conflicting interpretations of pathogenicity 342108 rs11568172 22:50518815-50518815 22:50080386-50080386
47 MLC1 NM_015166.3(MLC1):c.1053T>C (p.Ala351=)SNV Conflicting interpretations of pathogenicity 129613 rs11568190 22:50502469-50502469 22:50064040-50064040
48 MLC1 NM_015166.3(MLC1):c.65G>A (p.Arg22Gln)SNV Conflicting interpretations of pathogenicity 225412 rs184241759 22:50523267-50523267 22:50084838-50084838
49 HEPACAM NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)SNV Conflicting interpretations of pathogenicity 303335 rs35466065 11:124794793-124794793 11:124924897-124924897
50 HEPACAM NM_152722.5(HEPACAM):c.217C>G (p.Arg73Gly)SNV Uncertain significance 303337 rs768471108 11:124794834-124794834 11:124924938-124924938

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

73 (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

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 axon GO:0030424 8.92 HEPACAM HAP1 GPM6A FKBP15

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....