Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MLC2A MCID: MGL010 MIFTS: 42	Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (MLC2A) Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a ⁵⁶ ¹² ²⁹ ¹³ ⁶ ¹⁵ ³⁹ ⁷¹

Mlc2a ⁵⁶ ⁷³

Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 2a ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri
onset of macrocephaly in the first year of life
most patients become wheelchair-bound in later childhood

HPO:

³¹

megalencephalic leukoencephalopathy with subcortical cysts 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080318

OMIM ⁵⁶ 613925

OMIM Phenotypic Series ⁵⁶ PS604004

MeSH ⁴³ D056784

MedGen ⁴¹ C3151355

UMLS ⁷¹ C3151355

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Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

OMIM : ⁵⁶ Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011). Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B; 613926). (613925)

MalaCards based summary : Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a, also known as mlc2a, is related to megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation and down syndrome, and has symptoms including seizures, ataxia and muscle spasticity. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a is HEPACAM (Hepatic And Glial Cell Adhesion Molecule), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Microglia Activation During Neuroinflammation: Overview. Affiliated tissues include brain, heart and cerebellum, and related phenotypes are macrocephaly and intellectual disability

Disease Ontology : ¹² A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has material basis in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24.

UniProtKB/Swiss-Prot : ⁷³ Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A: A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease.

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Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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

Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation	11.4
2	down syndrome	10.3
3	leukodystrophy, hypomyelinating, 5	9.9	TUBB4A PLP1
4	hypomyelinating leukodystrophy	9.7	TUBB4A PLP1 HSPD1
5	leukodystrophy, hypomyelinating, 4	9.7	PLP1 HSPD1 HIP1 HEPACAM
6	leukoencephalopathy with vanishing white matter	9.6	SNCA PLP1 HEPACAM
7	leukodystrophy	9.6	TUBB4A PLP1 HSPD1 HEPACAM
8	lubs x-linked mental retardation syndrome	9.4	PLP1 MECP2
9	chromosomal duplication syndrome	9.2	SNCA MECP2

Graphical network of the top 20 diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

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Symptoms & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

³¹ (show all 14)

#	Description	HPO Source Accession
1	macrocephaly ³¹	HP:0000256
2	intellectual disability ³¹	HP:0001249
3	seizures ³¹	HP:0001250
4	spasticity ³¹	HP:0001257
5	megalencephaly ³¹	HP:0001355
6	ataxia ³¹	HP:0001251
7	dysarthria ³¹	HP:0001260
8	ventriculomegaly ³¹	HP:0002119
9	motor delay ³¹	HP:0001270
10	progressive neurologic deterioration ³¹	HP:0002344
11	cerebellar atrophy ³¹	HP:0001272
12	diffuse white matter abnormalities ³¹	HP:0007204
13	cerebral atrophy ³¹	HP:0002059
14	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
dysarthria
more

Clinical features from OMIM:

613925

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

seizures, ataxia, muscle spasticity

GenomeRNAi Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

²⁶ (show all 15)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.6	HSPD1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.6	TUBB4A
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.6	HSPD1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-135	9.6	HSPD1 MECP2 TUBB4A
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-159	9.6	TUBB4A
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.6	HSPD1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.6	TUBB4A
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.6	MECP2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.6	MECP2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.6	MECP2 TUBB4A
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.6	MECP2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.6	HSPD1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.6	TUBB4A
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.6	TUBB4A
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.6	HSPD1 MECP2

MGI Mouse Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.02	GRIK4 HIP1 HSPD1 HSPG2 MECP2 PLP1
2	cellular	MP:0005384	9.96	HIP1 HSPD1 HSPG2 MECP2 PLP1 ROBO3
3	homeostasis/metabolism	MP:0005376	9.93	GRIK4 HEPACAM HIP1 HSPG2 MECP2 PLP1
4	muscle	MP:0005369	9.5	HIP1 HSPD1 HSPG2 PLP1 ROBO4 SORL1
5	nervous system	MP:0003631	9.44	GRIK4 HEPACAM HIP1 HSPD1 HSPG2 MECP2

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Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Search Clinical Trials , NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

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

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Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

⁴⁰

Brain, Heart, Cerebellum, Temporal Lobe, Smooth Muscle, Cardiac Myocytes

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Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

(show top 50) (show all 65)

#	Title	Authors	PMID	Year
1	Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. ⁵⁶ ⁶	Lopez-Hernandez T...van der Knaap MS	21419380	2011
2	Megalencephalic Leukoencephalopathy with Subcortical Cysts ⁶¹ ⁶	van der Knaap MS...Min R	20301707	2003
3	Megalencephalic leukoencephalopathy with cysts without MLC1 defect. ⁵⁶	van der Knaap MS...Scheper GC	20517947	2010
4	Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies. ⁶¹	Elorza-Vidal X...Estevez R	31960914	2020
5	Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. ⁶¹	Shi Z...Wang JM	31372844	2019
6	Second harmonic generation microscopy of early embryonic mouse hearts. ⁶¹	Lopez AL...Larina IV	31259060	2019
7	Comparative Proteomic Analysis Reveals the Upregulation of Ketogenesis in Cardiomyocytes Differentiated from Induced Pluripotent Stem Cells. ⁶¹	Kim S...Lee S	30724459	2019
8	Priming with oxytocin and relaxin improves cardiac differentiation of adipose tissue-derived stem cells. ⁶¹	Taha MF...Yamaghani MS	30362159	2019
9	Maturation of three-dimensional, hiPSC-derived cardiomyocyte spheroids utilizing cyclic, uniaxial stretch and electrical stimulation. ⁶¹	LaBarge W...Zhang J	31276558	2019
10	Commonly used thiol-containing antioxidants reduce cardiac differentiation and alter gene expression ratios of sarcomeric isoforms. ⁶¹	Tu C...Zoldan J	29920245	2018
11	Expression profile of long non-coding RNAs during the differentiation of human umbilical cord derived mesenchymal stem cells into cardiomyocyte-like cells. ⁶¹	Ruan ZB...Zhu L	29633064	2018
12	Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. ⁶¹	Hamilton EMC...MLC Research Group	29661901	2018
13	Cardiotrophic Growth Factor-Driven Induction of Human Muse Cells Into Cardiomyocyte-Like Phenotype. ⁶¹	Amin M...Dezawa M	29637816	2018
14	Deletion of Cdc42 in embryonic cardiomyocytes results in right ventricle hypoplasia. ⁶¹	Liu Y...Peng X	29101495	2017
15	Functional expression and pharmaceutical efficacy of cardiac-specific ion channels in human embryonic stem cell-derived cardiomyocytes. ⁶¹	Kim HS...Park WS	29062050	2017
16	Impaired redox environment modulates cardiogenic and ion-channel gene expression in cardiac-resident and non-resident mesenchymal stem cells. ⁶¹	Subramani B...Ramasamy R	28092181	2017
17	Sphingosine 1-phosphate receptor-1 in cardiomyocytes is required for normal cardiac development. ⁶¹	Clay H...Coughlin SR	27333774	2016
18	Transient up- and down-regulation of expression of myosin light chain 2 and myostatin mRNA mark the changes from stratified hyperplasia to muscle fiber hypertrophy in larvae of gilthead sea bream (Sparus aurata L.). ⁶¹	Georgiou S...Moutou KA	26246399	2016
19	Three-dimensional poly-(ε-caprolactone) nanofibrous scaffolds directly promote the cardiomyocyte differentiation of murine-induced pluripotent stem cells through Wnt/β-catenin signaling. ⁶¹	Chen Y...Zheng QS	26335746	2015
20	Stimulation of cardiomyogenesis from mouse embryonic stem cells by nuclear translocation of cardiotrophin-1. ⁶¹	Mascheck L...Sauer H	26005169	2015
21	Cardiogenesis of embryonic stem cells with liquid marble micro-bioreactor. ⁶¹	Sarvi F...Chan PP	24818841	2015
22	Isolation of contractile cardiomyocytes from human pluripotent stem-cell-derived cardiomyogenic cultures using a human NCX1-EGFP reporter. ⁶¹	Ovchinnikov DA...Wolvetang EJ	25075536	2015
23	Cardiovascular Patterning as Determined by Hemodynamic Forces and Blood Vessel Genetics. ⁶¹	Anderson GA...Henkelman RM	26340748	2015
24	Atrial and ventricular specification of ADSCs is stimulated by different doses of BMP4. ⁶¹	Khaleghi M...Javeri A	25216643	2014
25	High efficiency differentiation of human pluripotent stem cells to cardiomyocytes and characterization by flow cytometry. ⁶¹	Bhattacharya S...Gundry RL	25286293	2014
26	Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. ⁶¹	Arnedo T...Estevez R	24202401	2014
27	[Morphological and molecular bases of cardiac development]. ⁶¹	Kobylinska J...Burdan F	24088538	2013
28	Static magnetic fields increase cardiomyocyte differentiation of Flk-1+ cells derived from mouse embryonic stem cells via Ca2+ influx and ROS production. ⁶¹	Bekhite MM...Wartenberg M	22465345	2013
29	Atrial identity is determined by a COUP-TFII regulatory network. ⁶¹	Wu SP...Tsai SY	23725765	2013
30	Functional vascular smooth muscle-like cells derived from adult mouse uterine mesothelial cells. ⁶¹	Lachaud CC...Hmadcha A	23405120	2013
31	Ultrastructural maturation of human-induced pluripotent stem cell-derived cardiomyocytes in a long-term culture. ⁶¹	Kamakura T...Kimura T	23400258	2013
32	Primitive cardiac cells from human embryonic stem cells. ⁶¹	Hudson J...Cooper-White J	21933026	2012
33	Polycomb repressive complex 2 regulates normal development of the mouse heart. ⁶¹	He A...Pu WT	22158708	2012
34	Deletion of cardiomyocyte mineralocorticoid receptor ameliorates adverse remodeling after myocardial infarction. ⁶¹	Fraccarollo D...Bauersachs J	21242479	2011
35	SDF-1-enhanced cardiogenesis requires CXCR4 induction in pluripotent stem cells. ⁶¹	Chiriac A...Nelson TJ	20842469	2010
36	Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation. ⁶¹	Stoller DA...McNally EM	20656890	2010
37	The microwell control of embryoid body size in order to regulate cardiac differentiation of human embryonic stem cells. ⁶¹	Mohr JC...Kamp TJ	19945747	2010
38	iPS programmed without c-MYC yield proficient cardiogenesis for functional heart chimerism. ⁶¹	Martinez-Fernandez A...Terzic A	19696409	2009
39	Migration and differentiation of human umbilical cord stem cells after heart injury in chicken embryos. ⁶¹	Torre-Perez N...Hurle JM	18393637	2009
40	Angiotensin II and myosin light-chain phosphorylation contribute to the stretch-induced slow force response in human atrial myocardium. ⁶¹	Kockskamper J...Pieske B	18503051	2008
41	Induction by left ventricular overload and left ventricular failure of the human Jumonji gene (JARID2) encoding a protein that regulates transcription and reexpression of a protective fetal program. ⁶¹	Bovill E...Shaw T	18805276	2008
42	Generation of functional murine cardiac myocytes from induced pluripotent stem cells. ⁶¹	Mauritz C...Martin U	18625890	2008
43	Cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase (FAK) conditional knockout mice. ⁶¹	Peng X...Guan JL	18448675	2008
44	Epicardium-derived cells in development of annulus fibrosis and persistence of accessory pathways. ⁶¹	Kolditz DP...Gittenberger-de Groot AC	18332266	2008
45	Peroxisome proliferator-activated receptor alpha agonists enhance cardiomyogenesis of mouse ES cells by utilization of a reactive oxygen species-dependent mechanism. ⁶¹	Sharifpanah F...Sauer H	17951219	2008
46	Distinct roles of Wnt/beta-catenin and Bmp signaling during early cardiogenesis. ⁶¹	Klaus A...Birchmeier W	18000065	2007
47	Vascular remodeling of the mouse yolk sac requires hemodynamic force. ⁶¹	Lucitti JL...Dickinson ME	17720695	2007
48	Activation of MEK-ERK by heregulin-beta1 promotes the development of cardiomyocytes derived from ES cells. ⁶¹	Kim HS...Morisaki T	17678625	2007
49	CHF1/Hey2 plays a pivotal role in left ventricular maturation through suppression of ectopic atrial gene expression. ⁶¹	Koibuchi N...Chin MT	17332425	2007
50	Stimulation of ES-cell-derived cardiomyogenesis and neonatal cardiac cell proliferation by reactive oxygen species and NADPH oxidase. ⁶¹	Buggisch M...Sauer H	17298980	2007

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Genes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Genes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HEPACAM	Hepatic And Glial Cell Adhesion Molecule	Protein Coding	1316.92	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301707 21419380
2	PKNOX2	PBX/Knotted 1 Homeobox 2	Protein Coding	7.07	DISEASES inferred ¹⁵
3	TBCEL	Tubulin Folding Cofactor E Like	Protein Coding	7.03	DISEASES inferred ¹⁵
4	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	6.56	DISEASES inferred ¹⁵
5	ROBO4	Roundabout Guidance Receptor 4	Protein Coding	6.47	DISEASES inferred ¹⁵
6	BLID	BH3-Like Motif Containing, Cell Death Inducer	Protein Coding	6.09	DISEASES inferred ¹⁵
7	MIR100HG	Mir-100-Let-7a-2-Mir-125b-1 Cluster Host Gene	RNA Gene	5.81	DISEASES inferred ¹⁵
8	HIP1	Huntingtin Interacting Protein 1	Protein Coding	5.69	DISEASES inferred ¹⁵
9	SC5D	Sterol-C5-Desaturase	Protein Coding	5.56	DISEASES inferred ¹⁵
10	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	5.28	DISEASES inferred ¹⁵
11	GRIK4	Glutamate Ionotropic Receptor Kainate Type Subunit 4	Protein Coding	5.07	DISEASES inferred ¹⁵
12	UBR1	Ubiquitin Protein Ligase E3 Component N-Recognin 1	Protein Coding	4.99	DISEASES inferred ¹⁵
13	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	4.64	DISEASES inferred ¹⁵
14	SORL1	Sortilin Related Receptor 1	Protein Coding	4.57	DISEASES inferred ¹⁵
15	PLP1	Proteolipid Protein 1	Protein Coding	4.34	DISEASES inferred ¹⁵
16	MIR100	MicroRNA 100	RNA Gene	4.31	DISEASES inferred ¹⁵
17	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	3.92	DISEASES inferred ¹⁵
18	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	3.76	DISEASES inferred ¹⁵
19	SNCA	Synuclein Alpha	Protein Coding	3.36	DISEASES inferred ¹⁵

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Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HEPACAM	NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr)	SNV	Pathogenic	30914	rs387907049	11:124793747-124793747	11:124923851-124923851
2	HEPACAM	HEPACAM, TRP263TER	undetermined variant	Pathogenic	30915
3	HEPACAM	NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)	SNV	Pathogenic	30916	rs387907050	11:124794776-124794776	11:124924880-124924880
4	HEPACAM	NM_152722.5(HEPACAM):c.631G>A (p.Asp211Asn)	SNV	Pathogenic	30917	rs387907051	11:124793703-124793703	11:124923807-124923807
5	HEPACAM	NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys)	SNV	Pathogenic	30918	rs387907052	11:124794759-124794759	11:124924863-124924863
6	HEPACAM	NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)	SNV	Pathogenic	30919	rs387907053	11:124794786-124794786	11:124924890-124924890
7	HEPACAM	NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp)	SNV	Pathogenic	30921	rs387907055	11:124794777-124794777	11:124924881-124924881
8	HEPACAM	NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)	SNV	Likely pathogenic	433199	rs1555055028	11:124793892-124793892	11:124923996-124923996
9	HEPACAM	NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile)	SNV	Uncertain significance	435410	rs746134081	11:124793720-124793720	11:124923824-124923824
10	HEPACAM	NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn)	SNV	Uncertain significance	638399		11:124794923-124794923	11:124925027-124925027

UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	HEPACAM	p.Leu23His	VAR_065849
2	HEPACAM	p.Arg92Gln	VAR_065852	rs387907050
3	HEPACAM	p.Arg98Cys	VAR_065854	rs387907052
4	HEPACAM	p.Pro148Ser	VAR_065857	rs155505502
5	HEPACAM	p.Ser196Tyr	VAR_065858	rs387907049
6	HEPACAM	p.Asp211Asn	VAR_065859	rs387907051

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Expression for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Search GEO for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a.

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Pathways for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Pathways related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.34	PLP1 MECP2 HSPD1
2	Microglia Activation During Neuroinflammation: Overview ⁶⁴ Show member pathways Microglia Activation During Neuroinflammation: Microglia Activation ⁶⁴	10.9	SNCA HSPG2 HSPD1

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GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:0030424	9.26	SNCA ROBO4 ROBO3 HEPACAM
2	postsynapse	GO:0098794	8.8	SNCA MECP2 HIP1

Biological processes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein maturation	GO:0051604	9.32	SORL1 HSPD1
2	dendrite self-avoidance	GO:0070593	9.26	ROBO4 ROBO3
3	negative regulation of microtubule polymerization	GO:0031115	9.16	TUBB4A SNCA
4	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.13	SNCA HSPD1 HIP1
5	chemical synaptic transmission	GO:0007268	8.92	SNCA PLP1 MECP2 GRIK4

Molecular functions related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell adhesion mediator activity	GO:0098632	8.62	ROBO4 ROBO3

Sources

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (MLC2A)

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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

Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Symptoms & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

GenomeRNAi Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Genes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Genes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (1 elite genes):

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Expression for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Pathways for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Pathways related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

Biological processes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

Molecular functions related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a