MCID: MGL013
MIFTS: 34

Megalencephaly malady

Neuronal diseases category

Summaries for Megalencephaly

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43NINDS, 63Wikipedia, 32MalaCards
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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: 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 Energy dependent regulation of mTOR by LKB1-AMPK and LKB1 signaling events. 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 endocrine/exocrine gland and tumorigenesis.

Wikipedia:63 Megalencephaly (or Macrencephaly abbreviated MEG) is a growth development disorder in which the brain is... more...

Aliases & Classifications for Megalencephaly

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43NINDS, 25ICD10
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Related Diseases for Megalencephaly

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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 90)
idRelated DiseaseScoreTop Affiliating Genes
1megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome30.3PIK3R2, AKT3
2tuberous sclerosis30.2TSC1, STK11, PIK3CA
3polyhydramnios29.8STRADA
4hemimegalencephaly10.5
5hydrocephalus10.5
6megalencephaly-capillary malformation syndrome10.5
7polymicrogyria10.4
8polydactyly10.4
9megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3
10megalencephalic leukoencephalopathy with subcortical cysts10.3
11megalencephaly, polymicrogyria, and hydrocephalus syndrome10.2
12leukoencephalopathy, cystic, without megalencephaly10.2
13megalencephaly, autosomal recessive10.2
14cerebritis10.1
15neuronitis10.1
16alexander disease10.1
17focal alopecia congenital megalencephaly10.1
18isolated megalencephaly10.1
19achondroplasia10.0
20thanatophoric dysplasia10.0
21periventricular nodular heterotopia10.0
22leukodystrophy10.0
23image syndrome10.0
24macrocephaly-capillary malformation10.0
25megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic10.0
26polyhydramnios, megalencephaly, and symptomatic epilepsy10.0
27medulloblastoma10.0PIK3CA
28cholangiocarcinoma10.0PIK3CA
29subependymal giant cell astrocytoma10.0TSC1
30leukemia10.0PIK3CA
31tuberous sclerosis complex10.0TSC1
32polycystic ovary syndrome10.0INS
33eating disorder10.0INS
34ischemia10.0PIK3CA, STK11
35neuroendocrine tumor10.0SST
36pancreatic islet cell tumors10.0SST
37prostate cancer10.0PIK3CA, AKT3
38dumping syndrome10.0SST
39glioblastoma multiforme10.0PIK3CA, CCK
40intestinal disease10.0SST
41peutz-jeghers syndrome10.0TSC1, STRADA, STK11
42gallbladder disease10.0TSC1, CCK
43respiratory failure10.0TSC1, CCK
44pituitary tumors10.0SST
45cowden disease10.0PIK3CA, STK11, TSC1
46morbid obesity10.0INS, CCK
47astrocytoma10.0TSC1, STK11, PIK3CA
48thyroid cancer10.0SST, PIK3CA
49prader-willi syndrome10.0INS, CCK
50huntington's disease10.0SST

Graphical network of the top 20 diseases related to Megalencephaly:



Diseases related to megalencephaly

Clinical Features for Megalencephaly

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Drugs & Therapeutics for Megalencephaly

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Megalencephaly

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Anatomical Context for Megalencephaly

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32MalaCards
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MalaCards organs/tissues related to Megalencephaly:

32
Brain, Cortex, Spinal cord

Animal Models for Megalencephaly or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Megalencephaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.6CCK, PIK3CA
2MP:00020068.7PIK3CA, STK11, AKT3, TSC1, PIK3R2
3MP:00036318.7TSC1, INS, CCK, EIF2B5
4MP:00053698.5TSC1, INS, STK11, PIK3CA, PIK3R2
5MP:00053857.8PIK3R2, EIF2B5, INS, STK11, PIK3CA, TSC1
6MP:00030127.5INS, CCK, SST, MLC1, STK11, PIK3CA
7MP:00053867.1TSC1, EIF2B5, INS, SST, STK11, PIK3CA
8MP:00053766.6CCK, TSC1, EIF2B5, INS, AKT3, STK11

Publications for Megalencephaly

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Genetic Variations for Megalencephaly

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Expression for genes affiliated with Megalencephaly

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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 51QIAGEN, 59Tocris Bioscience, 49PharmGKB, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Megalencephaly according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.5STK11, TSC1, STRADA
29.5STK11, TSC1, STRADA
3
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9.4AKT3, PIK3CA, PIK3R2
4
Immune response IFN gamma signaling pathway
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9.4AKT3, PIK3R2, PIK3CA
59.4AKT3, PIK3CA, PIK3R2
6
Development FGF-family signaling
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9.4AKT3, PIK3R2, PIK3CA
79.4AKT3, PIK3CA, PIK3R2
8
Hide members
9.4AKT3, PIK3CA, PIK3R2
99.4AKT3, PIK3CA, PIK3R2
10
Immune response ICOS pathway in T-helper cell
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9.4AKT3, PIK3CA, PIK3R2
11
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9.4PIK3R2, PIK3CA, AKT3
12
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9.4PIK3R2, PIK3CA, AKT3
13
Immune response NFAT in immune response
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9.4PIK3R2, PIK3CA, AKT3
149.4PIK3R2, PIK3CA, AKT3
159.4PIK3R2, PIK3CA, AKT3
16
Development Ligand-independent activation of ESR1 and ESR2
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9.4PIK3R2, AKT3, PIK3CA
17
Immune response IL-2 activation and signaling pathway
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9.4PIK3CA, PIK3R2, AKT3
18
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9.4PIK3CA, PIK3R2, AKT3
199.4PIK3CA, PIK3R2, AKT3
20
Development PDGF signaling via STATs and NF-kB
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9.4PIK3CA, PIK3R2, AKT3
219.4PIK3CA, AKT3, PIK3R2
22
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9.4PIK3CA, AKT3, PIK3R2
23
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9.4PIK3CA, AKT3, PIK3R2
24
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9.4PIK3R2, AKT3, PIK3CA
25
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9.4PIK3CA, AKT3, PIK3R2
26
Signal transduction IP3 signaling
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9.4PIK3CA, PIK3R2, AKT3
27
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9.4PIK3CA, AKT3, PIK3R2
28
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9.4PIK3CA, AKT3, PIK3R2
299.4PIK3R2, AKT3, PIK3CA
309.4PIK3R2, PIK3CA, EIF2B5
319.4TSC1, AKT3, PIK3R2
329.4TSC1, PIK3R2, AKT3
33
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9.3INS, PIK3CA, PIK3R2
349.3PIK3R2, PIK3CA, INS
35
Development Leptin signaling via PI3K-dependent pathway
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9.1PIK3CA, AKT3, STK11, PIK3R2
369.0PIK3R2, PIK3CA, AKT3, TSC1
37
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9.0PIK3R2, PIK3CA, AKT3, TSC1
38
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8.9AKT3, CCK, PIK3R2, PIK3CA
39
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8.9PIK3R2, INS, AKT3, PIK3CA
40
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8.9PIK3R2, PIK3CA, AKT3, INS
41
Development Prolactin receptor signaling
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8.9AKT3, PIK3CA, INS, PIK3R2
428.9AKT3, INS, PIK3CA, PIK3R2
43
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8.9STK11, TSC1, INS, PIK3R2
448.8STRADA, TSC1, STK11, PIK3CA, PIK3R2
458.5INS, STK11, AKT3, PIK3R2, TSC1
46
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8.5TSC1, INS, AKT3, PIK3CA, PIK3R2
47
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8.2TSC1, INS, PIK3CA, PIK3R2, STK11, STRADA
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
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6.5PIK3R2, CCK, STRADA, PIK3CA, STK11, AKT3

Compounds for genes affiliated with Megalencephaly

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Sources:
59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB
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Compounds related to Megalencephaly according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1as 6052405910.1PIK3R2, PIK3CA
2czc 248325910.1PIK3R2, PIK3CA
3pi 103 hydrochloride5910.1PIK3R2, PIK3CA
4740 y-p5910.1PIK3R2, PIK3CA
5phenformin44 1111.0INS, STK11
6pramlintide44 1110.7CCK, INS
7incretin449.7INS, CCK
8metformin44 49 1111.7INS, STK11, PIK3CA
9taurodeoxycholate449.5SST, CCK
10minigastrin449.5SST, CCK
11loxiglumide449.5CCK, SST
12vapreotide28 44 1111.5CCK, SST
13alosetron44 1110.5CCK, SST
14glipizide44 1110.5INS, SST
15bethanechol44 28 1111.4CCK, SST
16orlistat44 59 1111.4INS, CCK
17acipimox44 2810.3INS, SST
18cyproheptadine28 44 1111.3SST, CCK
19loperamide44 11 2411.3CCK, SST
20pirenzepine44 28 1111.2CCK, SST
21glucose449.2TSC1, STK11, PIK3CA, CCK
22oxyntomodulin44 5910.1SST, CCK
23dtpa449.0CCK, SST
24intralipid449.0INS, SST, CCK
25threonine449.0TSC1, AKT3, STK11, PIK3CA, PIK3R2
26octreotide44 59 28 1112.0CCK, SST, INS
27c-peptide449.0CCK, SST, INS
28ibmx44 28 5910.8CCK, SST, INS
29glycogen44 249.8PIK3CA, STK11, INS, EIF2B5, TSC1
30phosphatidylinositol448.8PIK3R2, PIK3CA, AKT3, INS, TSC1
31adenylate448.5CCK, PIK3CA, STK11, SST
32rapamycin448.4PIK3CA, STK11, SST, INS, TSC1
33acth448.3INS, SST, CCK

GO Terms for genes affiliated with Megalencephaly

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16Gene Ontology
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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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  • Antibodies
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  • Lysates
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Sources for Megalencephaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet