MCID: MGL002
MIFTS: 46

Megalencephalic Leukoencephalopathy with Subcortical Cysts malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Aliases & Descriptions for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 49 11 21 45 22 23 51 24 65
Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts 21 45 22 23 51 67
Van Der Knaap Disease 21 22 23 67
Leukoencephalopathy with Swelling and Cysts 45 23 67
Lvm 45 23 67
Mlc 45 23 51
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 1 67 24
Leukoencephalopathy with Swelling and a Discrepantly Mild Course 23
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 22
 
Infantile Leukoencephalopathy and Megalencephaly 23
Megalencephaly-Cystic Leukodystrophy Syndrome 51
Megalencephaly-Cystic Leukodystrophy 45
Vacuolating Leukoencephalopathy 23
Megalencephalic Leukodystrophy 51
Van Der Knaap Syndrome 51
Mlc1 67
Vl 67

Characteristics:

Orphanet epidemiological data:

51
megalencephalic leukoencephalopathy with subcortical cysts:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
megalencephalic leukoencephalopathy with subcortical cysts:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 604004
Orphanet51 2478
ICD10 via Orphanet28 E75.2
UMLS via Orphanet66 C1858854
MedGen34 C1858854
MeSH36 D056784
UMLS65 C1858854

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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NIH Rare Diseases:45 Megalencephalic leukoencephalopathy with subcortical cysts is a condition that affects brain development and function. children with this condition have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. they also have an abnormality of the brain's white matter (leukoencephalopathy). the leukoencephalopathy may ultimately result in abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, speech difficulties, and seizures. despite the brain abnormalities people with this condition tend to have only mild to moderate learning impairment. this condition may affect a child’s ability to walk, however some children are able to walk well into adulthood. it is important to protect people with mlc from even mild head trauma, because head trauma can cause further impairments and may lead to coma. this condition is genetic and is passed through families in an autosomal recessive pattern. it is most often caused by changes in the mlc1 gene. last updated: 6/4/2009

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 diffuse swelling of cerebral white matter, diffuse spongiform leukoencephalopathy and megalencephaly. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (Megalencephalic Leukoencephalopathy With Subcortical Cysts 1), and among its related pathways is Mineral absorption. Affiliated tissues include brain, temporal lobe and cortex.

Genetics Home Reference:23 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:49 Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset... (604004) more...

UniProtKB/Swiss-Prot:67 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:68 Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of... more...

GeneReviews summary for NBK1535

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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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 top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation13.0
2megalencephalic leukoencephalopathy with subcortical cysts 2a12.9
3hepacam-related megalencephalic leukoencephalopathy with subcortical cysts12.8
4mlc1-related megalencephalic leukoencephalopathy with subcortical cysts12.8
5schizophrenia11.5
6l-2-hydroxyglutaric aciduria11.4
7cerebral degeneration11.4
8aortic valve insufficiency11.4
9megalencephaly11.4
10hepatosplenic t-cell lymphoma11.1
11pyelonephritis10.6
12influenza10.6
13visceral leishmaniasis10.5
14myocardial infarction10.4
15prostate cancer10.4
16breast cancer10.4
17retinoblastoma10.4
18metachromatic leukodystrophy10.4
19adrenoleukodystrophy10.4
20lipoma10.4
21angina pectoris10.4
22acute kidney failure10.4
23focal segmental glomerulosclerosis10.4
24follicular lymphoma10.4
25hematopoietic stem cell transplantation10.4
26leukemia10.4
27malignant glioma10.4
28acute diarrhea10.4
29glomerulosclerosis10.4
30lymphoma10.4
31endobronchial lipoma10.4
32pneumoconiosis10.4
33leukodystrophy10.4
34xanthogranulomatous pyelonephritis10.4
35diarrhea10.4
36premature ejaculation10.4
37prostatitis10.4
38melanoma10.4
39enthesopathy10.4
40gilbert syndrome10.4
41hairy cell leukemia10.4
42endometriosis10.4
43newcastle disease10.4
44astrocytoma10.4
45necrobiosis lipoidica10.4
46spindle cell carcinoma10.4
47cerebrovascular disease10.4
48thyroiditis10.4
49sporadic breast cancer10.4
50dwarfism10.4

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



Diseases related to megalencephalic leukoencephalopathy with subcortical cysts

Symptoms for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Symptoms by clinical synopsis from OMIM:

604004

Clinical features from OMIM:

604004

HPO human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

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

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Doxycyclineapproved, investigational219564-25-054671203, 5281011
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
2Antiprotozoal Agents1730
3Antiparasitic Agents1854
4Antimalarials1058
5Anti-Infective Agents17220
6Anti-Bacterial Agents9140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Protection of the Heart With Doxycycline During Coronary Artery Bypass GraftingCompletedNCT00246740

Search NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

id Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts22 MLC1
2 Megalencephalic Leukoencephalopathy with Subcortical Cysts 122

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

33
Brain, Temporal lobe, Cortex, Heart, Lung, T cells, Prostate

Animal Models for Megalencephalic Leukoencephalopathy with Subcortical Cysts or affiliated genes

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Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Therapy of nephrolithiasis: where is the evidence from clinical trials? (27049371)
2016
2
Postoperative thrombocytosis: An unusual case report. (26539380)
2015
3
Activation of the PI3K/AKT pathway by microRNA-22 results in CLL B-cell proliferation. (24825182)
2015
4
The role of oxidative stress and inflammatory response in high-fat diet induced peripheral neuropathy. (24407112)
2014
5
Statin therapy to reduce stent thrombosis in acute myocardial infarction patients with elevated high-sensitivity C-reactive protein. (22592028)
2013
6
Non pitting edema, arthritis and ichthyosis; presenting manifestation of leprosy. (24236367)
2013
7
Interictal increase of CGRP levels in peripheral blood as a biomarker for chronic migraine. (23975872)
2013
8
Combining biochemical and imaging markers to improve diagnosis and characterization of mild traumatic brain injury in the acute setting: results from a pilot study. (24260364)
2013
9
Prevalence of undiagnosed asymptomatic aortic valve stenosis in the general population older than 65 years. A screening strategy using cardiac auscultation followed by Doppler-echocardiography. (23932044)
2013
10
Frequency and distribution of asymptomatic brain lesions in patients with I^-thalassemia intermedia. (22824997)
2012
11
Mercaptopurine-induced hypersensitivity febrile reaction in patient with acute promyelocytic leukemia. (21902579)
2012
12
Association of the 15q25 and 5p15 lung cancer susceptibility regions with gene expression in lung tumor tissue. (22539604)
2012
13
Taking STEPs forward to understand fragile X syndrome. (22009355)
2012
14
Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. (21273388)
2011
15
TGF-I^ stimulates biglycan core protein synthesis but not glycosaminoglycan chain elongation via Akt phosphorylation in vascular smooth muscle. (21913799)
2011
16
Beta-hCG/LH receptor (b-HCG/LH-R) expression is increased in invasive versus preinvasive breast cancer: implications for breast carcinogenesis? (18758818)
2009
17
Isolated liver transplant in infants with short bowel syndrome: insights into outcomes and prognostic factors. (19274790)
2009
18
pH-dependent interaction of rhodopsin with cyanidin-3-glucoside. 2. Functional aspects. (19267871)
2009
19
Prdx1 inhibits tumorigenesis via regulating PTEN/AKT activity. (19369943)
2009
20
Atypical trigeminal neuralgia of the mental nerve: a case study. (19241795)
2009
21
Clinicopathological study of 21 cases of eyelid actinic keratosis. (18633577)
2009
22
The NKG2D ligand ULBP4 binds to TCRgamma9/delta2 and induces cytotoxicity to tumor cells through both TCRgammadelta and NKG2D. (19436053)
2009
23
Upregulation of erythropoietin receptor in human prostate carcinoma and high-grade prostatic intraepithelial neoplasia. (17637760)
2008
24
G-protein-coupled receptors. (18175088)
2008
25
Insulin resistance and progression to type 1 diabetes in the European Nicotinamide Diabetes Intervention Trial (ENDIT). (17959864)
2008
26
Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus. (17568575)
2007
27
Targeting tumor-associated carbonic anhydrase IX in cancer therapy. (16996620)
2006
28
Water-soluble through-bond energy transfer cassettes for intracellular imaging. (16910657)
2006
29
Recombinant adenovirus vectors carrying antisense MMP2 inhibit invasion of HCC cells in vitro]. (15850513)
2005
30
Retinoids and retinol differentially regulate steroid biosynthesis in ovarian theca cells isolated from normal cycling women and women with polycystic ovary syndrome. (15914525)
2005
31
Amyloid formation: an emulation of matrix protein assembly? (15678758)
2004
32
Discrimination between agonists and antagonists by the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid-selective glutamate receptor. A mutation analysis of the ligand-binding domain of GluR-D subunit. (12167621)
2002
33
Sero-epidemiology of hepatitis E virus (HEV) in urban and rural children of North India. (11359972)
2001
34
Src-catalyzed phosphorylation of c-Cbl leads to the interdependent ubiquitination of both proteins. (11448952)
2001
35
Identification and characterization of a novel mutation in von Willebrand factor causing type 2B von Willebrand's disease. (10233434)
1999
36
Does tacrolimus cause more severe anemia than cyclosporine A in children after renal transplantation? (9665008)
1998
37
Cutaneous T cell lymphomas: mycosis fungoides, Sezary syndrome and HTLV-I-associated adult T cell leukemia (ATL) in Mali, West Africa: a clinical, pathological and immunovirological study of 14 cases and a review of the African ATL cases. (9557617)
1998
38
Genetic nosology and counseling of humeroradial synostosis. (7811427)
1994
39
Phase I trial of a genetically engineered interleukin-2 fusion toxin (DAB486IL-2) as a 6 hour intravenous infusion in patients with hematologic malignancies. (7950914)
1994
40
Combination 13-cis-retinoic acid and interferon alpha-2a in the therapy of solid tumors. (7934156)
1994
41
Identification of glycosylated subtypes of interferon-alpha produced by human leukocytes. (7765487)
1994
42
Transient protein S deficiency with deep venous thrombosis during Salmonella typhimurium infection. (8435001)
1993
43
Further African cases of rhinosporidiosis. (8368891)
1993
44
Human immunodeficiency virus type 1 Vpu protein regulates the formation of intracellular gp160-CD4 complexes. (1727486)
1992
45
Identification and comparison of CD34-positive cells and their subpopulations from normal peripheral blood and bone marrow using multicolor flow cytometry. (1710512)
1991
46
Tricuspid atresia. Surgical treatment, pediatric nursing care. (2288582)
1990
47
Ewing's sarcoma and peripheral neuroectodermal tumors. Report of a case with laterothoracic localization]. (2173115)
1990
48
Visual agnosia in an artist. (710146)
1978
49
Giant cell epulis. A case report of two lesions in the same patient. (13778203)
1961
50

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

67 (show all 15)
id Symbol AA change Variation ID SNP ID
1MLC1p.Ser93LeuVAR_011699rs80358245
2MLC1p.Thr118ArgVAR_011700rs281875316
3MLC1p.Gly212ArgVAR_011701rs281875317
4MLC1p.Ser280LeuVAR_011702rs121908341
5MLC1p.Gly59GluVAR_017438rs80358242
6MLC1p.Pro92SerVAR_017439rs121908345
7MLC1p.Asn141LysVAR_017440rs121908343
8MLC1p.Asn141SerVAR_017441rs121908344
9MLC1p.Ser69LeuVAR_067762rs281875309
10MLC1p.Met80IleVAR_067763rs281875310
11MLC1p.Arg84CysVAR_067764rs281875311
12MLC1p.Cys125ArgVAR_067765rs281875314
13MLC1p.Ala245ProVAR_067766rs281875312
14MLC1p.Ser246ArgVAR_067767rs281875315
15MLC1p.Thr320LysVAR_067768rs281875313

Clinvar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1MLC1NM_015166.3(MLC1): c.714+1G> Asingle nucleotide variantLikely pathogenicrs761620701GRCh37Chr 22, 50512644: 50512644
2MLC1NM_015166.3(MLC1): c.324delT (p.Asn110Thrfs)deletionLikely pathogenicrs786204747GRCh37Chr 22, 50518446: 50518446
3MLC1NM_015166.3(MLC1): c.223delG (p.Val75Cysfs)deletionPathogenicrs794729233GRCh37Chr 22, 50521557: 50521557
4MLC1NM_015166.3(MLC1): c.178-10T> Asingle nucleotide variantPathogenicrs80358243GRCh37Chr 22, 50521612: 50521612
5MLC1NM_015166.3(MLC1): c.298_423+108deldeletionPathogenicGRCh37Chr 22, 50518239: 50518796
6MLC1NM_015166.3(MLC1): c.206C> T (p.Ser69Leu)single nucleotide variantPathogenicrs281875309GRCh37Chr 22, 50521574: 50521574
7MLC1NM_015166.3(MLC1): c.839C> T (p.Ser280Leu)single nucleotide variantPathogenicrs121908341GRCh37Chr 22, 50506917: 50506917
8MLC1NM_015166.3(MLC1): c.278C> T (p.Ser93Leu)single nucleotide variantPathogenicrs80358245GRCh37Chr 22, 50518816: 50518816
9MLC1MLC1, 7-BP DEL, NT564deletionPathogenic
10MLC1MLC1, IVS10AS, A-G, -2single nucleotide variantPathogenic
11MLC1NM_015166.3(MLC1): c.423C> A (p.Asn141Lys)single nucleotide variantPathogenicrs121908343GRCh37Chr 22, 50518347: 50518347
12MLC1NM_015166.3(MLC1): c.422A> G (p.Asn141Ser)single nucleotide variantPathogenicrs121908344GRCh37Chr 22, 50518348: 50518348
13MLC1NM_015166.3(MLC1): c.274C> T (p.Pro92Ser)single nucleotide variantPathogenicrs121908345GRCh37Chr 22, 50518820: 50518820
14MLC1NM_015166.3(MLC1): c.594_597delCTCA (p.Tyr198Terfs)deletionPathogenicrs267607236GRCh37Chr 22, 50515270: 50515273
15MLC1NM_015166.3(MLC1): c.176G> A (p.Gly59Glu)single nucleotide variantPathogenicrs80358242GRCh37Chr 22, 50523156: 50523156
16MLC1NM_015166.3(MLC1): c.135dupC (p.Cys46Leufs)duplicationPathogenicrs80358241GRCh37Chr 22, 50523197: 50523197
17MLC1MLC1, 17-BP DEL, G INSindelPathogenic

Expression for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

Pathways for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

idSuper pathwaysScoreTop Affiliating Genes
19.7ATP1B1, CLCN2

GO Terms for genes affiliated with Megalencephalic Leukoencephalopathy with Subcortical Cysts

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

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:00057689.6MLC1, VTI1A
2mitochondrial outer membraneGO:00057419.1MCL1, MGST1

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

idNameGO IDScoreTop Affiliating Genes
1ion transmembrane transportGO:00342209.7ATP1B1, CLCN2

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet