MCID: MGL013
MIFTS: 41

Megalencephaly malady

Neuronal category

Summaries for Megalencephaly

Sources:
44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and tuberous sclerosis. An important gene associated with Megalencephaly is STRADA (STE20-related kinase adaptor alpha), and among its related pathways are LKB1 signaling events and Energy dependent regulation of mTOR by LKB1-AMPK. The compounds as 605240 and czc 24832 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and cortex, and related mouse phenotypes are endocrine/exocrine gland and tumorigenesis.

Wikipedia:64 Megalencephaly (or Macrencephaly abbreviated MEG) is a growth development disorder in which the brain is... more...

Aliases & Classifications for Megalencephaly

Sources:
44NINDS, 25ICD10
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Related Diseases for Megalencephaly

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Megalencephaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome30.6PIK3R2, AKT3
2tuberous sclerosis30.2TSC1, STK11, PIK3CA
3tuberous sclerosis complex29.8TSC1
4polyhydramnios29.8STRADA
5hemimegalencephaly10.6
6polymicrogyria10.4
7polydactyly10.4
8n syndrome10.3
9megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3
10megalencephalic leukoencephalopathy with subcortical cysts10.3
11megalencephaly, polymicrogyria, and hydrocephalus syndrome10.2
12leukoencephalopathy, cystic, without megalencephaly10.2
13linear nevus sebaceous syndrome10.2
14megalencephaly, autosomal recessive10.2
15alexander disease10.1
16focal alopecia congenital megalencephaly10.1
17macrocephaly-capillary malformation10.1
18megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.1
19achondroplasia10.0
20thanatophoric dysplasia10.0
21periventricular nodular heterotopia10.0
22bod syndrome10.0
23periventricular heterotopia10.0
24ataxia10.0
25polyhydramnios, megalencephaly, and symptomatic epilepsy10.0
26isolated megalencephaly10.0
27medulloblastoma10.0PIK3CA
28cholangiocarcinoma10.0PIK3CA
29subependymal giant cell astrocytoma10.0TSC1
30leukemia10.0PIK3CA
31polycystic ovary syndrome10.0INS
32eating disorder10.0INS
33ischemia10.0PIK3CA, STK11
34neuroendocrine tumor10.0SST
35pancreatic islet cell tumors10.0SST
36prostate cancer10.0PIK3CA, AKT3
37dumping syndrome10.0SST
38glioblastoma multiforme10.0PIK3CA, CCK
39intestinal disease10.0SST
40peutz-jeghers syndrome10.0TSC1, STRADA, STK11
41gallbladder disease10.0TSC1, CCK
42respiratory failure10.0TSC1, CCK
43pituitary tumors10.0SST
44cowden disease10.0PIK3CA, STK11, TSC1
45morbid obesity10.0INS, CCK
46astrocytoma10.0TSC1, STK11, PIK3CA
47thyroid cancer10.0SST, PIK3CA
48prader-willi syndrome10.0INS, CCK
49huntington's disease10.0SST
50glucagonoma10.0CCK, SST

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to megalencephaly

Clinical Features for Megalencephaly

Drugs & Therapeutics for Megalencephaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Megalencephaly

Drug clinical trials:

Search ClinicalTrials for Megalencephaly

Search NIH Clinical Center for Megalencephaly

Search CenterWatch for Megalencephaly

Genetic Tests for Megalencephaly

Anatomical Context for Megalencephaly

Sources:
33MalaCards
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MalaCards organs/tissues related to Megalencephaly:

33
Spinal cord, Brain, Cortex, T cells, Fetal brain, Temporal lobe, Occipital lobe

Animal Models for Megalencephaly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Megalencephaly

Sources:
51PubMed
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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
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. (24092603)
2013
5
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. (23592320)
2013
6
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. (23798482)
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
Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia. (19672585)
2009
10
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. (19353582)
2009
11
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings. (19369601)
2009
12
Cystic leukoencephalopathy without megalencephaly. (18545798)
2008
13
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. (17646634)
2007
14
Megalencephaly and polymicrogyria with polydactyly syndrome. (17675034)
2007
15
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. (16807158)
2006
16
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children. (15851732)
2005
17
Widespread capillary malformation associated with global developmental delay and megalencephaly. (15194954)
2004
18
Prenatal diagnosis of unilateral megalencephaly by 2D and 3D ultrasound: a case report. (10215074)
1999
19
Primary megalencephaly at birth and low intelligence level. (10522881)
1999
20
Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)
1998
21
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. (9874550)
1998
22
Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. (9661971)
1998
23
Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. (9120220)
1996
24
Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. (8937352)
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
Human cerebral cortical cell lines from patients with unilateral megalencephaly and Rasmussen's encephalitis. (7700510)
1994
28
More association of linear sebaceous nevus syndrome and unilateral megalencephaly. (8141058)
1994
29
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993
30
Association of linear sebaceous nevus syndrome and unilateral megalencephaly. (8456720)
1993
31
Primitive megalencephaly in children: natural history, medium term prognosis with special reference to external hydrocephalus. (2347345)
1990
32
Human cortical neuronal cell line: establishment from a patient with unilateral megalencephaly. (1692158)
1990
33
Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings. (2234324)
1990
34
Optic disc drusen and primary megalencephaly in children. (2709281)
1989
35
Megalencephaly: definition and classification. (3285723)
1988
36
Congenital hemicerebral arterial ectasia complicating unilateral megalencephaly. (3580746)
1987
37
White matter attenuation and megalencephaly. (4073939)
1985
38
Megalencephaly with formation of Rosenthal fibers in symmetric subependymal gliomatous proliferations: clinicopathologic report. (6839573)
1983
39
Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. (7274594)
1981
40
Unilateral megalencephaly, cerebral cortical dysplasia, neuronal hypertrophy, and heterotopia: cytomorphometric, fluorometric cytochemical, and biochemical analyses. (419942)
1979
41
Megalencephaly and chromosomal anomaly. (696244)
1978
42
The radiographic features of unilateral megalencephaly. (673168)
1978
43
Megalencephaly in infants and children. The possible role of increased dural sinus pressure. (646683)
1978
44
Cerebrospinal fluid dynamics in megalencephaly. (1060598)
1975
45
Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. (4673338)
1972
46
Ataxia-telangiectasia. Its association with megalencephaly and mesenteric lymphangiectasia. (5793696)
1969
47
Unilateral megalencephaly with nerve cell hypertrophy. An anatomical and quantitative histochemical study. (5699812)
1968
48
MEGALENCEPHALY; A CLINICAL STUDY WITH CHROMOSOMAL ANALYSIS. (14168210)
1964
49
Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. (13885465)
1961
50
Megalencephaly; a report of two cases. (20267740)
1947

Genetic Variations for Megalencephaly

Expression for genes affiliated with Megalencephaly

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 54Reactome, 53R&D Systems, 12EMD Millipore, 52QIAGEN, 30KEGG, 60Tocris Bioscience, 50PharmGKB, 4Cell Signaling Technology
See all sources

Pathways related to Megalencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TSC1, STRADA, STK11
2
Hide members
9.5TSC1, STRADA, STK11
3
Hide members
9.4AKT3, PIK3CA, PIK3R2
49.4AKT3, PIK3CA, PIK3R2
59.4AKT3, PIK3CA, PIK3R2
6
Hide members
9.4AKT3, PIK3CA, PIK3R2
7
Immune response NFAT in immune response
Hide members
9.4AKT3, PIK3CA, PIK3R2
8
Hide members
9.4AKT3, PIK3CA, PIK3R2
99.4AKT3, PIK3CA, PIK3R2
10
Hide members
9.4AKT3, PIK3CA, PIK3R2
11
Development Ligand-independent activation of ESR1 and ESR2
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9.4AKT3, PIK3CA, PIK3R2
12
Development FGF-family signaling
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9.4AKT3, PIK3CA, PIK3R2
13
Hide members
9.4PIK3R2, PIK3CA, AKT3
149.4PIK3R2, PIK3CA, AKT3
159.4PIK3R2, PIK3CA, AKT3
16
Hide members
9.4PIK3R2, PIK3CA, AKT3
17
Development PDGF signaling via STATs and NF-kB
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9.4PIK3R2, PIK3CA, AKT3
189.4PIK3R2, PIK3CA, AKT3
19
Immune response ICOS pathway in T-helper cell
Hide members
9.4PIK3R2, PIK3CA, AKT3
20
Hide members
9.4PIK3R2, PIK3CA, AKT3
219.4PIK3R2, PIK3CA, AKT3
22
Hide members
9.4PIK3R2, PIK3CA, AKT3
23
Hide members
9.4PIK3R2, PIK3CA, AKT3
24
Hide members
9.4PIK3R2, PIK3CA, AKT3
25
Signal transduction IP3 signaling
Hide members
9.4PIK3R2, PIK3CA, AKT3
26
Immune response IL-2 activation and signaling pathway
Hide members
9.4PIK3R2, PIK3CA, AKT3
279.4PIK3R2, PIK3CA, AKT3
28
Immune response IFN gamma signaling pathway
Hide members
9.4PIK3R2, PIK3CA, AKT3
29
Hide members
9.4PIK3CA, AKT3, PIK3R2
309.4PIK3R2, PIK3CA, EIF2B5
319.4TSC1, AKT3, PIK3R2
329.4PIK3R2, AKT3, TSC1
339.3PIK3R2, PIK3CA, INS
34
Hide members
9.3PIK3R2, PIK3CA, INS
35
Development Leptin signaling via PI3K-dependent pathway
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9.1PIK3R2, PIK3CA, STK11, AKT3
369.0TSC1, AKT3, PIK3CA, PIK3R2
37
Hide members
9.0PIK3R2, PIK3CA, AKT3, TSC1
38
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8.9CCK, PIK3R2, PIK3CA, AKT3
39
Hide members
8.9INS, AKT3, PIK3CA, PIK3R2
40
Hide members
8.9PIK3R2, PIK3CA, AKT3, INS
41
Development Prolactin receptor signaling
Hide members
8.9PIK3R2, PIK3CA, AKT3, INS
428.9PIK3R2, PIK3CA, AKT3, INS
43
Hide members
8.9TSC1, INS, STK11, PIK3R2
448.8PIK3R2, PIK3CA, STK11, STRADA, TSC1
458.5PIK3R2, STK11, AKT3, INS, TSC1
46
Hide members
8.5PIK3R2, PIK3CA, AKT3, INS, TSC1
47
Hide members
8.2PIK3R2, PIK3CA, STK11, STRADA, INS, TSC1
488.2PIK3R2, PIK3CA, STK11, AKT3, INS, TSC1
49
Translation Insulin regulation of translation
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7.5TSC1, PIK3R2, PIK3CA, STK11, STRADA, AKT3
50
Hide members
6.5CCK, PIK3R2, PIK3CA, STK11, STRADA, AKT3

Compounds for genes affiliated with Megalencephaly

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB
See all sources

Compounds related to Megalencephaly according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1as 6052406010.1PIK3R2, PIK3CA
2czc 248326010.1PIK3R2, PIK3CA
3pi 103 hydrochloride6010.1PIK3R2, PIK3CA
4740 y-p6010.1PIK3R2, PIK3CA
5phenformin45 1111.0INS, STK11
6pramlintide45 1110.7CCK, INS
7incretin459.7INS, CCK
8metformin45 50 1111.7INS, STK11, PIK3CA
9taurodeoxycholate459.5SST, CCK
10minigastrin459.5SST, CCK
11loxiglumide459.5CCK, SST
12vapreotide29 45 1111.5CCK, SST
13alosetron45 1110.5CCK, SST
14glipizide45 1110.5INS, SST
15bethanechol45 29 1111.4CCK, SST
16orlistat45 60 1111.4INS, CCK
17acipimox45 2910.3INS, SST
18cyproheptadine29 45 1111.3SST, CCK
19loperamide45 11 2411.3CCK, SST
20pirenzepine45 29 1111.2CCK, SST
21glucose459.2TSC1, STK11, PIK3CA, CCK
22oxyntomodulin45 6010.1SST, CCK
23dtpa459.0CCK, SST
24intralipid459.0INS, SST, CCK
25threonine459.0TSC1, AKT3, STK11, PIK3CA, PIK3R2
26octreotide45 60 29 1112.0CCK, SST, INS
27c-peptide459.0CCK, SST, INS
28ibmx45 29 6010.8CCK, SST, INS
29glycogen45 249.8PIK3CA, STK11, INS, EIF2B5, TSC1
30phosphatidylinositol458.8PIK3R2, PIK3CA, AKT3, INS, TSC1
31adenylate458.5CCK, PIK3CA, STK11, SST
32rapamycin458.4PIK3CA, STK11, SST, INS, TSC1
33acth458.3INS, SST, CCK

GO Terms for genes affiliated with Megalencephaly

Sources:
16Gene Ontology
See all sources

Cellular components related to Megalencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase complexGO:0059429.8PIK3CA, PIK3R2

Biological processes related to Megalencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vasculature developmentGO:0019449.8STK11, PIK3CA
2activation of protein kinase activityGO:0321479.6STRADA, STK11
3cell cycle arrestGO:0070509.4STK11, STRADA, TSC1
4insulin receptor signaling pathwayGO:0082868.2TSC1, INS, STRADA, STK11, PIK3CA, PIK3R2

Molecular functions related to Megalencephaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:0163039.8PIK3CA, PIK3R2
2protein kinase activator activityGO:0302959.6STRADA, STK11, PIK3CA
3protein serine/threonine kinase activityGO:0046748.9AKT3, STRADA, STK11, PIK3CA
4hormone activityGO:0051798.5CCK, SST, INS
5protein bindingGO:0055156.3CCK, PIK3R2, PIK3CA, STK11, STRADA, AKT3

Products for genes affiliated with Megalencephaly

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Sources for Megalencephaly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet