MCID: MGL013
MIFTS: 45

Megalencephaly malady

Neuronal diseases category

Summaries for Megalencephaly

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NINDS:43 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 based summary: Megalencephaly is related to hydrocephalus and polyhydramnios. 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:64 Megalencephaly (or Macrencephaly abbreviated MEG) is a growth development disorder in which the brain is... more...

Aliases & Classifications for Megalencephaly

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Megalencephaly, Aliases & Descriptions:

Name: Megalencephaly 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

ICD1026 Q04.5

Related Diseases for Megalencephaly

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1hydrocephalus31.3TSC1
2polyhydramnios30.7STRADA
3tuberous sclerosis30.5PIK3CA, STK11, TSC1
4leukodystrophy30.4EIF2B5, MLC1
5hemimegalencephaly10.6
6megalencephaly-capillary malformation syndrome10.6
7polymicrogyria10.5
8polydactyly10.5
9megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.4
10subependymal giant cell astrocytoma10.4TSC1
11eating disorder10.4INS
12megalencephalic leukoencephalopathy with subcortical cysts10.3
13macrocephaly/megalencephaly syndrome, autosomal recessive10.3
14megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 110.3
15dumping syndrome10.3SST
16megalencephaly, polymicrogyria, and hydrocephalus syndrome10.3
17leukoencephalopathy, cystic, without megalencephaly10.3
18megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 210.2
19gallbladder disease10.2TSC1, CCK
20gastroparesis10.2CCK, INS
21morbid obesity10.2CCK, INS
22autonomic neuropathy10.2INS, CCK
23neuronitis10.2
24alexander disease10.2
25cerebritis10.2
26focal alopecia congenital megalencephaly10.2
27macrocephaly-capillary malformation10.2
28megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 310.2
29polyhydramnios, megalencephaly, and symptomatic epilepsy10.2
30isolated megalencephaly10.2
31peutz-jeghers syndrome10.2TSC1, STRADA, STK11
32cowden disease10.1PIK3CA, TSC1, STK11
33lung adenocarcinoma10.1PIK3CA, STK11, CCK
34thanatophoric dysplasia10.1
35achondroplasia10.1
36periventricular nodular heterotopia10.1
37linear nevus sebaceous syndrome10.1
38macrocephaly, benign familial10.1
39ataxia10.1
40steatorrhea10.1CCK, SST
41respiratory failure10.1CCK, TSC1
42cholelithiasis10.1SST, CCK
43short bowel syndrome10.1SST, CCK
44glucagonoma10.1SST, CCK
45pituitary gland disease10.1SST, INS
46hyperinsulinemic hypoglycemia10.1INS, SST
47peptic ulcer disease10.0SST, CCK
48prader-willi syndrome10.0CCK, INS
49brain cancer10.0CCK, TSC1, PIK3CA
50cushing's syndrome10.0SST, INS

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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Drug clinical trials:

Search ClinicalTrials for Megalencephaly

Search NIH Clinical Center for Megalencephaly

Genetic Tests for Megalencephaly

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Anatomical Context for Megalencephaly

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MalaCards organs/tissues related to Megalencephaly:

32
Brain, Cortex, Spinal cord, Temporal lobe

Animal Models for Megalencephaly or affiliated genes

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MGI Mouse Phenotypes related to Megalencephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7PIK3CA, PIK3R2, TSC1, AKT3, STK11
2MP:00053698.2PIK3CA, PIK3R2, INS, TSC1, STK11
3MP:00053798.1PIK3CA, INS, TSC1, AKT3, STK11, CCK
4MP:00053857.9PIK3CA, PIK3R2, INS, TSC1, STK11, EIF2B5
5MP:00053877.7EIF2B5, SST, STK11, AKT3, INS, PIK3CA
6MP:00030127.6PIK3CA, MLC1, INS, STK11, SST, CCK
7MP:00053867.3PIK3CA, INS, TSC1, AKT3, STK11, SST
8MP:00053787.2PIK3CA, INS, TSC1, AKT3, STK11, SST
9MP:00036316.9PIK3CA, INS, TSC1, AKT3, STK11, SST
10MP:00053766.6EIF2B5, PIK3CA, PIK3R2, INS, TSC1, AKT3

Publications for Megalencephaly

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Articles related to Megalencephaly:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence? (24939587)
2014
2
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. (24497998)
2014
3
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. (24705253)
2014
4
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. (23745724)
2013
5
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
6
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype. (24326961)
2013
7
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. (22374812)
2012
8
Genetics: mutations in mTOR pathway linked to megalencephaly syndromes. (22907262)
2012
9
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
10
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. (19672585)
2009
11
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. (19353582)
2009
12
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
13
A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. (18076119)
2008
14
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab. (18242108)
2008
15
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. (17646634)
2007
16
Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces. (16376276)
2006
17
Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait? (15602091)
2005
18
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
19
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
20
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. (9628190)
1998
21
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)
1998
22
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. (9874550)
1998
23
White matter attenuation and megalencephaly. (9279169)
1997
24
Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. (9120220)
1996
25
Unilateral megalencephaly in association with Dandy-Walker complex. (7922722)
1994
26
Prenatal diagnosis of unilateral megalencephaly by real-time ultrasonography. (8178875)
1994
27
Autism and megalencephaly. (8098126)
1993
28
Macrocrania and megalencephaly in the neonate. (8511423)
1993
29
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993
30
Primitive megalencephaly in children: natural history, medium term prognosis with special reference to external hydrocephalus. (2347345)
1990
31
Megalencephaly secondary to occlusion and stenosis of sigmoid sinuses. (2310437)
1990
32
Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. (1693466)
1990
33
Megalencephaly in the epileptic chicken: a morphometric study of the adult brain. (2087267)
1990
34
Optic disc drusen and primary megalencephaly in children. (2709281)
1989
35
Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. (2627209)
1989
36
Megalencephaly in sudden infant death syndrome. (2918209)
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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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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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 network37
ErbB signaling pathway37
9.5AKT3, PIK3R2, PIK3CA
3
Show member pathways
Development Ligand independent activation of ESR1 and ESR259
9.5AKT3, PIK3CA, PIK3R2
4
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades59
9.5AKT3, PIK3R2, PIK3CA
5
Show member pathways
Immune response IL 3 activation and signaling pathway59
9.5AKT3, PIK3R2, PIK3CA
6
Show member pathways
9.5AKT3, PIK3CA, PIK3R2
79.5AKT3, PIK3R2, PIK3CA
8
Show member pathways
Development Flt3 signaling59
9.5AKT3, PIK3CA, PIK3R2
99.5AKT3, PIK3R2, PIK3CA
10
Show member pathways
9.5PIK3CA, PIK3R2, AKT3
11
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway59
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB59
Development Angiopoietin Tie2 signaling59
9.5AKT3, PIK3R2, PIK3CA
129.5PIK3CA, PIK3R2, AKT3
13
Show member pathways
Development ERBB family signaling59
Development GDNF family signaling59
9.5AKT3, PIK3R2, PIK3CA
149.5PIK3CA, PIK3R2, AKT3
15
Show member pathways
Signal transduction PTEN pathway59
9.5PIK3CA, PIK3R2, AKT3
16
Show member pathways
IFN-gamma pathway37
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 myogenesis59
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 pathway59
Signal transduction AKT signaling59
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 Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
9.0AKT3, INS, PIK3R2, PIK3CA
39
Show member pathways
9.0PIK3CA, PIK3R2, INS, AKT3
40
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
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 events37
Polo-like kinase signaling events in the cell cycle37
8.6STK11, PIK3CA, PIK3R2, INS, AKT3
45
Show member pathways
Signaling Pathways in Glioblastoma37
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 regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
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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Compounds related to Megalencephaly according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1as 6052406010.3PIK3CA, PIK3R2
2czc 248326010.3PIK3CA, PIK3R2
3pi 103 hydrochloride6010.2PIK3CA, PIK3R2
4740 y-p6010.2PIK3CA, PIK3R2
5everolimus44 50 1212.0PIK3CA, TSC1
6phenformin44 1211.0INS, STK11
7pramlintide44 1210.9INS, CCK
8incretin449.9CCK, INS
9orlistat44 60 1211.8CCK, INS
10metformin44 50 1211.7PIK3CA, INS, STK11
11taurodeoxycholate449.6SST, CCK
12minigastrin449.6CCK, SST
13vapreotide44 29 1211.6SST, CCK
14loxiglumide449.6SST, CCK
15alosetron44 1210.6SST, CCK
16bethanechol44 29 1211.6CCK, SST
17aicar44 25 1211.6STK11, INS
18cyproheptadine44 29 1211.5CCK, SST
19glipizide44 50 1211.5INS, SST
20loperamide44 25 1211.5SST, CCK
21pirenzepine44 29 1211.5SST, CCK
22oxyntomodulin44 6010.5CCK, SST
23dtpa449.5SST, CCK
24acipimox44 2910.5SST, INS
25diazoxide44 60 29 1212.3SST, INS
26tolbutamide44 29 50 1212.2INS, SST
27omeprazole44 50 29 25 1213.2CCK, SST
28spec-t449.2SST, TSC1
295fluorouracil449.2PIK3CA, SST, CCK
30intralipid449.1CCK, SST, INS
31octreotide44 60 29 1212.1INS, SST, CCK
32c-peptide449.1INS, SST, CCK
33threonine449.0PIK3CA, PIK3R2, TSC1, AKT3, STK11
34ibmx44 60 2911.0INS, SST, CCK
35acth449.0CCK, SST, INS
36phosphatidylinositol448.9PIK3CA, PIK3R2, INS, TSC1, AKT3
37adenylate448.9PIK3CA, STK11, SST, CCK
38glycogen44 259.8PIK3CA, INS, TSC1, STK11, EIF2B5
39vegf448.7PIK3CA, TSC1, STK11, SST
40testosterone44 60 25 1211.7CCK, SST, INS, PIK3CA
41dexamethasone44 50 29 1211.6CCK, SST, INS, PIK3CA
42arginine448.5CCK, SST, INS, PIK3CA
43rapamycin448.4PIK3CA, INS, TSC1, STK11, SST
44serine448.3PIK3CA, INS, TSC1, AKT3, STK11
45glutamate448.1CCK, SST, INS, PIK3CA
46glucose447.3CCK, SST, STK11, TSC1, INS, MLC1

GO Terms for genes affiliated with Megalencephaly

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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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet