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SEGA
MCID: SBP001

Subependymal Giant Cell Astrocytoma (SEGA) malady
3 drugs, 16 genes, 232 related diseases, clinical trials.

Summaries for Subependymal Giant Cell Astrocytoma

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MalaCards: Subependymal Giant Cell Astrocytoma, also known as SEGA, is related to tuberous sclerosis complex and pilocytic astrocytoma. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC1 (tuberous sclerosis 1), and among its related pathways are PDE3B signalling and Transcription of GFAP and S100B. The drugs cisplatin and cisplatin pwdr [va product] and the compounds ganglioside and gaba have been mentioned in the context of this disorder. Related mouse phenotypes are normal and no phenotypic analysis.

Aliases & Classifications for Subependymal Giant Cell Astrocytoma

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8Disease Ontology, 39NIH Rare Diseases, 10DISEASES, 45Orphanet, 56UMLS, 41Novoseek, 52SNOMED-CT, 31MeSH, 36NCIt
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Aliases & Descriptions:

subependymal giant cell astrocytoma 8 39 10 45 56
sega 8 39 45
astrocytoma subependymal giant cell 41
astrocytoma 56



External Ids:

Disease Ontology8 DOID:5077
SNOMED-CT52 1586004
NCIt36 C3696

Related Diseases for Subependymal Giant Cell Astrocytoma

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16GeneCards, 17GeneDecks
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Diseases related to subependymal giant cell astrocytoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex34.5TSC2, TSC1
2pilocytic astrocytoma34.3SYP, GFAP, TSC1, S100B, NES
3anaplastic astrocytoma34.2NES, TP53, GFAP
4astrocytoma33.4VIM, TSC2, NES, MAP2, S100B, GFAP
5subependymoma32.7TSC2
6gemistocytic astrocytoma32.0GFAP, S100B
7glioblastoma32.0GFAP, TP53, NES, TSC1, MAP2, MTOR
8tuberous sclerosis31.7S100B, TSC1, TSC2, VIM, SYP, GFAP
9central neurocytoma31.3GFAP, MAP2, SYP
10angiomyolipoma30.6TSC1, MTOR, TSC2, VIM
11oligodendroglioma30.5MAP2, GFAP, TP53, SYP, TSC1
12neuroblastoma30.2TP53, VIM, SYP
13retinoblastoma29.9MAP2, MTOR, GFAP, SYP, TP53
14neurofibromatosis28.8TSC2, SST, S100B, TSC1
15medulloblastoma27.8S100B, SYP, TP53, GFAP, NES, MAP2
16meningioma27.6S100B, VIM, GFAP, SST, TSC1, TP53
17von hippel-lindau disease27.3NPY, TSC2
18encephalitis27.3GFAP, CALB1
19pineoblastoma27.2GFAP, SYP
20papilloma27.2TP53
21colon cancer27.1TP53
22hemangioma26.9VIM
23acromegaly26.7CCK, SST
24ependymoma26.6GFAP, SYP, VIM, TSC2, S100B, MAP2
25obesity26.2CCK, MTOR, NPY
26malignant glioma26.0GFAP, SYP, TP53, MTOR, FABP7, NES
27chordoma25.9VIM, S100B, GFAP
28neurofibroma25.9VIM, SYP, S100B
29pleomorphic adenoma25.8GFAP, VIM, S100B
30neurilemmoma25.8GFAP, VIM
31adenoma25.6NES, VIM, TSC1, SST, TP53, SYP
32ganglioglioma25.1TSC1, MAP2, GFAP, SYP, TSC2, S100B
33breast cancer24.0TP53, VIM, TSC2, NES, TSC1, FABP7
34melanoma23.2TSC2, NES, MTOR, MAP2, TP53, VIM
35giant cell glioblastoma13.8GFAP
36gliosarcoma13.7GFAP
37embryonal cancer13.7NES
38neuroepithelioma13.7SYP
39gliomatosis cerebri13.7GFAP
40pneumothorax13.7TSC1
41melanotic neuroectodermal tumor13.7SYP
42down syndrome13.7S100B
43noonan syndrome13.6SGCA
44hypertension13.6NPY
45constipation13.6CCK
46mixed glioma13.6GFAP
47retinal detachment13.6GFAP
48primary hyperoxaluria13.5MTOR
49diabetic retinopathy13.5GFAP
50teratoma13.5NES, GFAP

Graphical network of the top 20 diseases related to subependymal giant cell astrocytoma:



Diseases related to subependymal giant cell astrocytoma

Symptoms for Subependymal Giant Cell Astrocytoma

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 56UMLS, 37NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for subependymal giant cell astrocytoma

Inferred drug relations via UMLS56/NDF-RT37:

Genetic Tests for Subependymal Giant Cell Astrocytoma

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Anatomical Context for Subependymal Giant Cell Astrocytoma

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Animal Models for Subependymal Giant Cell Astrocytoma or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to subependymal giant cell astrocytoma:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
normal phenotype
MP:00028738.3S100B, TSC2, SYP, TP53, GFAP, NPY
2
no phenotypic analysis
MP:00030128.0TP53, SST, MTOR, CCK, FABP7, SYP
3
homeostasis/metabolism phenotype
MP:00053766.4TSC1, TSC2, SGCA, VIM, TP53, SST
4
growth/size phenotype
MP:00053786.4TSC1, TSC2, VIM, TP53, SST, GFAP
5
behavior/neurological phenotype
MP:00053865.3TP53, VIM, TSC2, TSC1, S100B, SST
6
nervous system phenotype
MP:00036315.0FABP7, TSC1, TSC2, VIM, SYP, TP53

Publications for Subependymal Giant Cell Astrocytoma

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47PubMed
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Articles related to subependymal giant cell astrocytoma:

(show all 18)
idTitleAuthorsYearAffiliating Genes
1Evidence of ambiguous differentiation and mTOR pathway dysregulation in subependymal giant cell astrocytoma. (22627626)Barrows B.D.... Tihan T.2012MTOR
2Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. (18673443)Takei H.... Powell S.Z.2009TSC1, GFAP
3Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells. (18629509)Phi J.H.... Kim S.K.2008VIM, FABP7, NES
4Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas. (17071037)Jozwiak J.... Wlodarski P.2007TSC2
5Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. (15851742)Ess K.C.... Gutmann D.H.2005TSC1
6A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. (16237225)Ichikawa T.... Niida Y.2005TSC1, TSC2
7Immunohistochemical study of central neurocytoma, subependymoma, and subependymal giant cell astrocytoma. (16078101)You H.... Jung H.W.2005NES
8Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. (15624760)Chan J.A.... Kwiatkowski D.J.2004TSC1, TSC2, MTOR
9Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. (15072102)Jozwiak S.... Roszkowski M.2004TSC1, TSC2
10Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis. (15619643)Sharma M.C.... Sarkar C.2004TSC1
11Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins. (15203749)Sharma M.... Sarkar C.2004TP53
12Subependymal giant cell astrocytoma with positive tuberin expression--case report. (14723270)Tabuchi S.... Watanabe T.2003TSC2
13Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. (11519851)Kim S.K.... Chi J.G.2001TSC2
14Cytogenetic changes in two cases of subependymal giant-cell astrocytoma. (9973956)Debiec-Rychter M.... Liberski P.P.1999TSC1
15Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. (9403714)Henske E.P.... Yeung R.S.1997TSC1, TSC2
16Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. (9595853)Taraszewska A.... Majchrowski A.1997TSC1, GFAP
17Immunohistochemical characterization of subependymal giant cell astrocytomas. (8928613)Lopes M.B.... VandenBerg S.R.1996S100B, TSC1, NPY
18Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. (8546029)Hirose T.... Charlesworth J.C.1995NPY, SST

Variations for Subependymal Giant Cell Astrocytoma

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Expression for genes affiliated with Subependymal Giant Cell Astrocytoma

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Subependymal Giant Cell Astrocytoma

Pathways for genes affiliated with Subependymal Giant Cell Astrocytoma

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50Reactome, 34NCBI BioSystems Database, 48QIAGEN, 12EMD Millipore, 27KEGG, 4Cell Signaling Technology
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Pathways related to subependymal giant cell astrocytoma according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
PDE3B signalling50
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10.0TSC2, TSC1
2
Transcription of GFAP and S100B50
9.9GFAP, S100B
3
mTOR signalling50
Hide members
9.5TSC1, TSC2, MTOR
4
mTOR signaling pathway34
9.5MTOR, TSC2, TSC1
5
Glioblastoma Multiforme48
9.4TP53, TSC2, TSC1
6
PIP3 activates AKT signaling50
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9.1MTOR, GFAP, TSC2, S100B
7
Cytoskeleton remodeling Neurofilaments12
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9.0VIM, GFAP, MAP2, NES
8
Glioma27
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8.9TSC1, TSC2, TP53, MTOR
9
Integrated Breast Cancer Pathway34
8.9TSC1, TSC2, TP53, MTOR
10
AMPK signaling34
8.9TSC1, TSC2, TP53, MTOR
11
Development IGF-RI signaling12
Hide members
8.9MTOR, TP53, TSC2, TSC1
12
LKB1 signaling events34
8.4MTOR, MAP2, TP53, TSC2, TSC1
13
Neuroscience4
8.0S100B, SYP, GFAP, MAP2, CALB1, FABP7
14
Signaling by GPCR50
Hide members
7.8S100B, TSC1, TSC2, SST, GFAP, NPY

Compounds for genes affiliated with Subependymal Giant Cell Astrocytoma

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41Novoseek, 55Tocris Bioscience, 46PharmGKB, 11DrugBank, 22HMDB
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Compounds related to subependymal giant cell astrocytoma according to GeneCards/GeneDecks:

(show top 50)    (show all 110)
idCompoundScoreTop Affiliating Genes
1ganglioside4110.3VIM
2gaba41 5511.2FABP7, MAP2
3glutamine419.7CCK, NPY, GFAP
4forskolin41 55 46 1112.7VIM, GFAP, CCK
5vinblastine41 46 1111.7MAP2, NPY, SST
6eosin419.6S100B, VIM, GFAP
7bethanechol41 1110.6NPY, CCK, SST
85-hydroxytryptamine419.6VIM, CALB1
9mucicarmine419.5S100B, VIM, SYP
10s 100419.5GFAP, S100B, VIM, SYP
11reticulin419.4GFAP, SYP, S100B, VIM
12n-acetylaspartate419.4GFAP, CALB1, SYP
13estrogen419.3TSC2, NPY, MTOR, VIM
14oxyntomodulin41 5510.1CCK, NPY, SST
15hematoxylin419.0MAP2, GFAP, VIM, SYP, S100B
16tetrodotoxin418.9NPY, GFAP, CALB1, CCK
17dbc-amp418.9MAP2, GFAP, SYP, VIM, S100B
18methamphetamine41 46 1110.9GFAP, MAP2, NPY, CALB1
19l-amino acid418.9SYP, S100B, MAP2, CALB1
20streptozotocin418.9VIM, SYP, SST, GFAP, NPY, NES
21acth418.8NPY, CCK, GFAP, SST, SYP, S100B
22dopamine41 11 2210.8GFAP, CALB1, MAP2, NES, NPY
23silver418.7MAP2, CALB1, SYP, GFAP
24cocaine41 119.6GFAP, VIM, S100B, CCK, NPY, MAP2
25cyclic amp41 229.6MAP2, SYP, S100B, VIM, GFAP
26creatinine418.5VIM, SGCA, S100B, SYP, GFAP, NPY
27kainate418.5CALB1, SYP, GFAP, NPY, MAP2, NES
28lactate418.3S100B, GFAP, VIM, SST, MAP2, NPY
29formaldehyde41 229.3CALB1, SYP, VIM, S100B, GFAP, NPY
30bromodeoxyuridine418.2S100B, GFAP, MAP2, VIM, NES, CALB1
31dexamethasone41 46 55 1111.2S100B, SYP, CCK, CALB1, MTOR, GFAP
32leucine418.2S100B, TSC2, VIM, MTOR, SYP, GFAP
33nmda41 559.1SYP, CALB1, NPY, MAP2, GFAP, VIM
34progesterone41 55 11 2211.0S100B, MAP2, NES, GFAP, TP53, SYP
35glycogen41 229.0S100B, TSC1, TSC2, GFAP, MAP2, MTOR
36adenylate417.9CCK, TSC2, S100B, VIM, NPY, MAP2
37norepinephrine41 11 229.8SST, CCK, CALB1, NPY, MAP2, S100B
38lipid417.8S100B, FABP7, SYP, NES, GFAP, VIM
39paraffin417.4VIM, NES, MAP2, GFAP, TP53, SYP
40acetylcholine41 11 229.3VIM, S100B, SYP, SST, NES, NPY
41arginine417.3S100B, TSC2, GFAP, VIM, TP53, SST
42choline41 11 229.3CALB1, NPY, NES, MAP2, GFAP, SST
43atp417.2CALB1, MAP2, GFAP, VIM, TSC2, S100B
44serine417.2S100B, SYP, TSC1, TP53, TSC2, GFAP
45vegf416.8SST, GFAP, TP53, SYP, VIM, TSC2
46tyrosine416.8CALB1, MTOR, NPY, S100B, SYP, NES
47glucose416.7CALB1, CCK, TSC1, S100B, SST, NPY
48glutamate416.6MAP2, NES, NPY, FABP7, CCK, GFAP
49testosterone41 11 228.3TSC2, S100B, SST, GFAP, VIM, MAP2
50retinoic acid41 55 227.5FABP7, S100B, VIM, CCK, CALB1, MTOR

GO Terms for genes affiliated with Subependymal Giant Cell Astrocytoma

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15Gene Ontology
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Cellular components related to subependymal giant cell astrocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.0TSC1, TSC2
2intermediate filamentGO:0058829.5NES, GFAP, VIM
3cell projectionGO:0429959.1VIM, GFAP, FABP7
4neuronal cell bodyGO:0430258.0FABP7, CALB1, MAP2, SST, TSC2, S100B
5cytoplasmGO:0057376.4S100B, TSC1, TSC2, SGCA, VIM, TP53

Biological processes related to subependymal giant cell astrocytoma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:0600209.9VIM, GFAP
2astrocyte developmentGO:0140029.8GFAP, VIM
3negative regulation of cell sizeGO:0457929.8MTOR, TSC2, TSC1
4regulation of protein kinase activityGO:0458599.7MTOR, TSC1
5intermediate filament organizationGO:0451099.7VIM, GFAP
6central nervous system neuron developmentGO:0219549.6NPY, MAP2
7positive regulation of protein oligomerizationGO:0324619.5CCK, TP53
8axonogenesisGO:0074099.5CCK, MAP2, S100B
9cellular response to organic substanceGO:0713109.2CALB1, MAP2, SYP
10positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1TP53, MTOR, CCK
11cellular response to hypoxiaGO:0714569.1MTOR, TP53, S100B
12central nervous system developmentGO:0074179.0NES, TP53, S100B
13negative regulation of cell proliferationGO:0082859.0TSC1, TSC2, TP53, SST, FABP7

Products for genes affiliated with Subependymal Giant Cell Astrocytoma

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  • Antibodies
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Sources for Subependymal Giant Cell Astrocytoma

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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