MCID: MGL013
MIFTS: 45

Megalencephaly malady

Neuronal diseases category

Summaries for Megalencephaly

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45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and mental retardation. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesn?t necessarily indicate abnormality. Large head size is passed down through the generations in some families.

MalaCards: Megalencephaly is related to hydrocephalus and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. An important gene associated with Megalencephaly is STRADA (STE20-related kinase adaptor alpha), and among its related pathways are TNF signaling pathway and ErbB signaling pathway. The compounds as 605240 and czc 24832 have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spinal cord, and related mouse phenotypes are tumorigenesis and muscle.

Wikipedia:66 Megalencephaly (or Macrencephaly abbreviated MEG) is a growth development disorder in which the brain is... more...

Aliases & Classifications for Megalencephaly

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45NINDS, 26ICD10
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Related Diseases for Megalencephaly

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18GeneCards, 19GeneDecks
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Diseases related to Megalencephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1hydrocephalus30.9TSC1
2megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome30.6AKT3, PIK3R2
3tuberous sclerosis30.3PIK3CA, STK11, TSC1
4leukodystrophy30.2EIF2B5, MLC1
5polyhydramnios30.1STRADA
6hemimegalencephaly10.6
7megalencephaly-capillary malformation syndrome10.5
8polymicrogyria10.5
9polydactyly10.4
10megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.4
11megalencephaly, polymicrogyria, and hydrocephalus syndrome10.3
12leukoencephalopathy, cystic, without megalencephaly10.3
13megalencephalic leukoencephalopathy with subcortical cysts10.2
14megalencephaly, autosomal recessive10.2
15neuronitis10.2
16alexander disease10.2
17cerebritis10.2
18focal alopecia congenital megalencephaly10.2
19macrocephaly-capillary malformation10.2
20polyhydramnios, megalencephaly, and symptomatic epilepsy10.2
21isolated megalencephaly10.2
22subependymal giant cell astrocytoma10.1TSC1
23eating disorder10.1INS
24achondroplasia10.1
25thanatophoric dysplasia10.1
26periventricular nodular heterotopia10.1
27linear nevus sebaceous syndrome10.1
28ataxia10.1
29megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.1
30dumping syndrome10.1SST
31gallbladder disease10.0TSC1, CCK
32gastroparesis10.0CCK, INS
33morbid obesity10.0CCK, INS
34autonomic neuropathy10.0INS, CCK
35peutz-jeghers syndrome10.0TSC1, STRADA, STK11
36cowden disease10.0PIK3CA, TSC1, STK11
37lung adenocarcinoma10.0PIK3CA, STK11, CCK
38steatorrhea10.0CCK, SST
39respiratory failure10.0CCK, TSC1
40cholelithiasis10.0SST, CCK
41short bowel syndrome10.0SST, CCK
42glucagonoma10.0SST, CCK
43pituitary gland disease10.0SST, INS
44hyperinsulinemic hypoglycemia10.0INS, SST
45peptic ulcer disease10.0SST, CCK
46prader-willi syndrome10.0CCK, INS
47brain cancer10.0CCK, TSC1, PIK3CA
48cushing's syndrome10.0SST, INS
49hypopituitarism10.0SST, INS
50pancreatic cancer10.0SST, STK11, CCK

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to megalencephaly

Symptoms for Megalencephaly

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Drugs & Therapeutics for Megalencephaly

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Megalencephaly

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Anatomical Context for Megalencephaly

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34MalaCards
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MalaCards organs/tissues related to Megalencephaly:

34
Brain, Cortex, Spinal cord, Temporal lobe

Animal Models for Megalencephaly or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Megalencephaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7STK11, AKT3, TSC1, PIK3R2, PIK3CA
2MP:00053698.2STK11, TSC1, PIK3CA, INS, PIK3R2
3MP:00053798.1AKT3, STK11, CCK, PIK3CA, TSC1, INS
4MP:00053857.9PIK3CA, PIK3R2, INS, STK11, TSC1, EIF2B5
5MP:00053877.7STK11, AKT3, INS, PIK3CA, EIF2B5, SST
6MP:00030127.6CCK, INS, MLC1, PIK3CA, SST, STK11
7MP:00053867.3STK11, PIK3CA, INS, TSC1, EIF2B5, SST
8MP:00053787.2INS, AKT3, STK11, SST, TSC1, EIF2B5
9MP:00036316.9EIF2B5, INS, CCK, TSC1, AKT3, STK11
10MP:00053766.6TSC1, AKT3, SST, PIK3R2, PIK3CA, CCK

Publications for Megalencephaly

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53PubMed
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Articles related to Megalencephaly:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (23745724)
2013
2
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
3
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. (24326961)
2013
4
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. (22374812)
2012
5
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. (22907262)
2012
6
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. (22228622)
2012
7
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. (19672585)
2009
8
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. (19353582)
2009
9
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
10
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. (18076119)
2008
11
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab. (18242108)
2008
12
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. (17646634)
2007
13
Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces. (16376276)
2006
14
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait? (15602091)
2005
15
Impact of early hemispherotomy in a case of Ohtahara syndrome with left parieto-occipital megalencephaly. (16046152)
2005
16
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
17
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
18
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. (9628190)
1998
19
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)
1998
20
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. (9874550)
1998
21
White matter attenuation and megalencephaly. (9279169)
1997
22
Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. (9120220)
1996
23
Unilateral megalencephaly in association with Dandy-Walker complex. (7922722)
1994
24
Prenatal diagnosis of unilateral megalencephaly by real-time ultrasonography. (8178875)
1994
25
Autism and megalencephaly. (8098126)
1993
26
Macrocrania and megalencephaly in the neonate. (8511423)
1993
27
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993
28
Linear nevus sebaceous syndrome: megalencephaly and heterotopic gray matter. (2029293)
1991
29
Primitive megalencephaly in children: natural history, medium term prognosis with special reference to external hydrocephalus. (2347345)
1990
30
Megalencephaly secondary to occlusion and stenosis of sigmoid sinuses. (2310437)
1990
31
Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. (1693466)
1990
32
Megalencephaly in the epileptic chicken: a morphometric study of the adult brain. (2087267)
1990
33
Optic disc drusen and primary megalencephaly in children. (2709281)
1989
34
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. (2627209)
1989
35
Megalencephaly in sudden infant death syndrome. (2918209)
1989
36
Megalencephaly in thanatophoric dysplasia and in achondroplasia. (2585221)
1989
37
Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. (3598114)
1986
38
White matter attenuation and megalencephaly. (4073939)
1985
39
Megalencephaly with formation of Rosenthal fibers in symmetric subependymal gliomatous proliferations: clinicopathologic report. (6839573)
1983
40
Asymmetric bilateral megalencephaly. A case report. (6666685)
1983
41
Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. (7274594)
1981
42
Chromatin-negative Klinefelter's syndrome with focal megalencephaly. (6258377)
1980
43
Megalencephaly and chromosomal anomaly. (696244)
1978
44
Unilateral megalencephaly: hamartoma or neoplasm? (1169702)
1975
45
Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. (4673338)
1972
46
Unilateral megalencephaly with nerve cell hypertrophy. An anatomical and quantitative histochemical study. (5699812)
1968
47
A CASE OF UNILATERAL MEGALENCEPHALY. (14248476)
1964
48
Megalencephaly. (5871502)
1964
49
Megalencephaly. (19990992)
1937
50
Megalencephaly. (21610769)
1934

Variations for Megalencephaly

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Expression for genes affiliated with Megalencephaly

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megalencephaly

Search GEO for disease gene expression data for Megalencephaly.

Pathways for genes affiliated with Megalencephaly

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 62Tocris Bioscience, 54QIAGEN, 56Reactome, 55R&D Systems, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Megalencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PIK3CA, PIK3R2, AKT3
2
Show member pathways
ErbB receptor signaling network39
ErbB signaling pathway39
9.5AKT3, PIK3R2, PIK3CA
3
Show member pathways
Development Ligand independent activation of ESR1 and ESR261
9.5AKT3, PIK3CA, PIK3R2
4
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
9.5AKT3, PIK3R2, PIK3CA
5
Show member pathways
Immune response IL 3 activation and signaling pathway61
9.5AKT3, PIK3R2, PIK3CA
6
Show member pathways
9.5AKT3, PIK3CA, PIK3R2
79.5AKT3, PIK3R2, PIK3CA
8
Show member pathways
Development Flt3 signaling61
9.5AKT3, PIK3CA, PIK3R2
99.5AKT3, PIK3R2, PIK3CA
10
Show member pathways
9.5PIK3CA, PIK3R2, AKT3
11
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.5AKT3, PIK3R2, PIK3CA
129.5PIK3CA, PIK3R2, AKT3
13
Show member pathways
Development ERBB family signaling61
Development GDNF family signaling61
9.5AKT3, PIK3R2, PIK3CA
149.5PIK3CA, PIK3R2, AKT3
15
Show member pathways
Signal transduction PTEN pathway61
9.5PIK3CA, PIK3R2, AKT3
16
Show member pathways
IFN-gamma pathway39
9.5PIK3CA, AKT3, PIK3R2
17
Show member pathways
9.5PIK3R2, AKT3, PIK3CA
18
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis61
9.5PIK3CA, AKT3, PIK3R2
199.5PIK3R2, PIK3CA, AKT3
209.5PIK3R2, AKT3, PIK3CA
21
Show member pathways
9.5PIK3R2, AKT3, PIK3CA
22
Show member pathways
9.5PIK3R2, AKT3, PIK3CA
23
Show member pathways
9.5PIK3CA, AKT3, PIK3R2
249.5PIK3R2, PIK3CA, AKT3
259.5PIK3R2, PIK3CA, AKT3
269.5EIF2B5, PIK3R2, PIK3CA
27
Show member pathways
9.3PIK3CA, PIK3R2, INS
289.3PIK3CA, PIK3R2, INS
299.3STK11, STRADA, TSC1
309.3PIK3R2, TSC1, AKT3
319.3PIK3R2, TSC1, AKT3
329.2PIK3CA, STK11, PIK3R2, AKT3
33
Show member pathways
9.1CCK, AKT3, PIK3CA, PIK3R2
34
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.0AKT3, TSC1, PIK3CA, PIK3R2
359.0PIK3CA, PIK3R2, TSC1, AKT3
36
Show member pathways
9.0PIK3CA, PIK3R2, INS, AKT3
379.0PIK3CA, PIK3R2, INS, AKT3
38
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
9.0AKT3, INS, PIK3R2, PIK3CA
39
Show member pathways
9.0PIK3CA, PIK3R2, INS, AKT3
40
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.0INS, PIK3CA, PIK3R2, AKT3
41
Show member pathways
9.0PIK3CA, AKT3, PIK3R2, INS
42
Show member pathways
8.7INS, PIK3R2, TSC1, STK11
438.7TSC1, STRADA, PIK3R2, PIK3CA, STK11
44
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
8.6STK11, PIK3CA, PIK3R2, INS, AKT3
45
Show member pathways
Signaling Pathways in Glioblastoma39
8.5AKT3, INS, TSC1, PIK3CA, PIK3R2
46
Show member pathways
8.4INS, TSC1, PIK3R2, AKT3, STK11
47
Show member pathways
8.2STRADA, STK11, TSC1, INS, PIK3CA, PIK3R2
488.1TSC1, AKT3, PIK3R2, PIK3CA, STK11, INS
49
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
7.4AKT3, PIK3CA, PIK3R2, INS, TSC1, STK11
50
Show member pathways
6.6INS, PIK3R2, STRADA, AKT3, STK11, SST

Compounds for genes affiliated with Megalencephaly

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Sources:
62Tocris Bioscience, 46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB
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Compounds related to Megalencephaly according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1as 6052406210.3PIK3CA, PIK3R2
2czc 248326210.3PIK3CA, PIK3R2
3pi 103 hydrochloride6210.2PIK3CA, PIK3R2
4740 y-p6210.2PIK3CA, PIK3R2
5everolimus46 52 1212.0PIK3CA, TSC1
6phenformin46 1211.0INS, STK11
7pramlintide46 1210.9INS, CCK
8incretin469.9CCK, INS
9orlistat46 62 1211.8CCK, INS
10metformin46 52 1211.7PIK3CA, INS, STK11
11taurodeoxycholate469.6SST, CCK
12minigastrin469.6CCK, SST
13vapreotide46 30 1211.6SST, CCK
14loxiglumide469.6SST, CCK
15alosetron46 1210.6SST, CCK
16bethanechol46 30 1211.6CCK, SST
17aicar46 25 1211.6STK11, INS
18cyproheptadine46 30 1211.5CCK, SST
19glipizide46 52 1211.5INS, SST
20loperamide46 25 1211.5SST, CCK
21pirenzepine46 30 1211.5SST, CCK
22oxyntomodulin46 6210.5CCK, SST
23dtpa469.5SST, CCK
24acipimox46 3010.5SST, INS
25diazoxide46 62 30 1212.3SST, INS
26tolbutamide46 30 52 1212.2INS, SST
27omeprazole46 52 30 25 1213.2CCK, SST
28spec-t469.2SST, TSC1
295fluorouracil469.2PIK3CA, SST, CCK
30intralipid469.1CCK, SST, INS
31octreotide46 62 30 1212.1INS, SST, CCK
32c-peptide469.1INS, SST, CCK
33threonine469.0PIK3CA, PIK3R2, TSC1, AKT3, STK11
34ibmx46 62 3011.0INS, SST, CCK
35acth469.0CCK, SST, INS
36phosphatidylinositol468.9PIK3CA, PIK3R2, INS, TSC1, AKT3
37adenylate468.9PIK3CA, STK11, SST, CCK
38glycogen46 259.8PIK3CA, INS, TSC1, STK11, EIF2B5
39vegf468.7PIK3CA, TSC1, STK11, SST
40testosterone46 62 25 1211.7CCK, SST, INS, PIK3CA
41dexamethasone46 52 30 1211.6CCK, SST, INS, PIK3CA
42arginine468.5CCK, SST, INS, PIK3CA
43rapamycin468.4PIK3CA, INS, TSC1, STK11, SST
44serine468.3PIK3CA, INS, TSC1, AKT3, STK11
45glutamate468.1CCK, SST, INS, PIK3CA
46glucose467.3CCK, SST, STK11, TSC1, INS, MLC1

GO Terms for genes affiliated with Megalencephaly

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17Gene Ontology
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Cellular components related to Megalencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase complexGO:0059429.6PIK3R2, PIK3CA
2cytosolGO:0058298.3EIF2B5, STRADA, STK11, TSC1, PIK3R2, PIK3CA

Biological processes related to Megalencephaly according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:03609210.0PIK3R2, PIK3CA
2activation of Rho GTPase activityGO:0328629.8TSC1, TBC1D7
3vasculature developmentGO:0019449.8PIK3CA, STK11
4negative regulation of TOR signalingGO:0320079.8TBC1D7, TSC1
5activation of protein kinase activityGO:0321479.7STRADA, STK11
6T cell receptor signaling pathwayGO:0508529.7STK11, PIK3R2, PIK3CA
7cell cycle arrestGO:0070509.4STRADA, STK11, TSC1
8positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3INS, STK11, CCK
9myelinationGO:0425529.2EIF2B5, TSC1
10response to heatGO:0094089.2EIF2B5, SST
11insulin receptor signaling pathwayGO:0082868.4STRADA, STK11, TSC1, INS, PIK3R2, PIK3CA

Molecular functions related to Megalencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:0163039.9PIK3R2, PIK3CA
2protein kinase activator activityGO:0302959.6STRADA, STK11, PIK3CA
3protein serine/threonine kinase activityGO:0046749.1PIK3CA, AKT3, STK11, STRADA
4hormone activityGO:0051798.4CCK, SST, INS
5protein bindingGO:0055156.1PIK3CA, PIK3R2, MLC1, INS, TSC1, AKT3

Products for genes affiliated with Megalencephaly

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Sources for Megalencephaly

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet