SEGA
MCID: SBP001
MIFTS: 51

Subependymal Giant Cell Astrocytoma (SEGA) malady

Neuronal diseases, Cancer diseases categories

Summaries for Subependymal Giant Cell Astrocytoma

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MalaCards: Subependymal Giant Cell Astrocytoma, also known as SEGA, is related to astrocytoma and tuberous sclerosis. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC1 (tuberous sclerosis 1), and among its related pathways are Inhibition of TSC complex formation by PKB and mTOR signaling pathway. The compounds estrogen and streptozotocin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin, and related mouse phenotypes are muscle and homeostasis/metabolism.

Aliases & Classifications for Subependymal Giant Cell Astrocytoma

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 60UMLS, 44Novoseek, 39NCIt, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet
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Classifications:

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


Aliases & Descriptions:

subependymal giant cell astrocytoma 8 42 10 48 60
sega 8 42 48
astrocytoma subependymal giant cell 44


External Ids:

Disease Ontology8 DOID:5077
NCIt39 C3696
SNOMED-CT56 1586004
MeSH34 D001254
SNOMED-CT via Orphanet57 449799008, 1586004

Related Diseases for Subependymal Giant Cell Astrocytoma

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17GeneCards, 18GeneDecks
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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 185)
idRelated DiseaseScoreTop Affiliating Genes
1astrocytoma31.9VIM, S100B, NES, SYP, MAP2, GFAP
2tuberous sclerosis31.7VIM, S100B, NES, MTOR, SYP, MAP2
3angiomyolipoma30.8VIM, MTOR, TSC1, TSC2
4neuroblastoma30.7TP53, ENO2, SYP
5giant cell glioblastoma30.4GFAP
6gemistocytic astrocytoma30.4S100B, GFAP
7central neurocytoma30.4SYP, MAP2, GFAP
8multiple sclerosis30.4NPY, MAP2, GFAP
9retinoblastoma30.4MTOR, SYP, MAP2, GFAP, ENO2, TP53
10giant cell tumor10.6
11spinal cord astrocytoma10.3
12lymphedema10.3
13optic nerve astrocytoma10.3
14optic nerve glioma10.3
15subependymal glioma10.3
16perivascular epithelioid cell tumor10.0TSC2
17kidney rhabdoid cancer10.0TSC2
18dysembryoplastic neuroepithelial tumor10.0SYP
19neuropathy10.0SGCA
20melanotic neuroectodermal tumor10.0SYP
21phaeochromocytoma10.0NPY
22medulloepithelioma10.0SYP
23gliosarcoma10.0GFAP
24subependymoma10.0TSC2
25pneumothorax10.0TSC1
26down syndrome10.0S100B
27hypertension10.0NPY
28retinal detachment10.0GFAP
29gliomatosis cerebri10.0GFAP
30thymus cancer10.0SYP
31constipation10.0CCK
32histiocytosis10.0S100B
33primary hyperoxaluria10.0MTOR
34tuberous sclerosis complex10.0TSC2, TSC1
35mixed glioma10.0GFAP
36hydrocephalus10.0TSC1, NES
37alcohol dependence10.0NPY
38osteoarthritis10.0NPY
39von hippel-lindau disease10.0TSC2, NPY
40gastroesophageal reflux disease10.0CCK
41lymphangioleiomyomatosis10.0TSC2, TSC1
42pancreas disease10.0CCK
43papilloma10.0TP53
44osteosarcoma10.0TP53
45endometrial carcinoma10.0TP53
46encephalitis10.0CALB1, GFAP
47adrenocortical carcinoma10.0TP53
48colon cancer10.0TP53
49hyperinsulinemic hypoglycemia10.0SST
50cerebral primitive neuroectodermal tumor10.0ENO2

Graphical network of the top 20 diseases related to Subependymal Giant Cell Astrocytoma:



Diseases related to subependymal giant cell astrocytoma

Clinical Features for Subependymal Giant Cell Astrocytoma

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Genetic Tests for Subependymal Giant Cell Astrocytoma

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Anatomical Context for Subependymal Giant Cell Astrocytoma

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32MalaCards
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MalaCards organs/tissues related to Subependymal Giant Cell Astrocytoma:

32
Brain, Spinal cord, Skin, Testes

Animal Models for Subependymal Giant Cell Astrocytoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1TP53, TSC1, SGCA, GFAP
2MP:00053768.3CCK, NPY, FABP7, MTOR, GFAP, SGCA
3MP:00030127.9CCK, FABP7, MTOR, SYP, SST, TP53
4MP:00028737.6S100B, NPY, MTOR, SYP, SST, GFAP
5MP:00036317.2TSC1, CCK, CALB1, NPY, FABP7, SYP
6MP:00053786.7VIM, NPY, NES, MTOR, SST, MAP2
7MP:00053865.1NES, FABP7, NPY, S100B, CALB1, VIM

Publications for Subependymal Giant Cell Astrocytoma

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50PubMed
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Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
A management strategy for intraventricular subependymal giant cell astrocytomas in tuberous sclerosis complex. (24180681)
2014
2
Resection of subependymal giant cell astrocytoma guided by intraoperative magnetic resonance imaging and neuronavigation. (23397586)
2013
3
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
4
Response of Subependymal Giant Cell Astrocytoma With Spinal Cord Metastasis to Everolimus. (24276039)
2013
5
Subependymal giant cell astrocytoma with intratumoral hemorrhage. (23414132)
2013
6
Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex:: Considerations for Surgical or Pharmacotherapeutic Intervention. (24105488)
2013
7
Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. (24138953)
2013
8
Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. (22375958)
2012
9
Subependymal giant cell astrocytoma: Cytological findings. (23326038)
2012
10
Mitotic activity in subependymal giant cell astrocytoma. (23239637)
2012
11
Everolimus: in patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex. (22136276)
2012
12
Advances in the management of subependymal giant cell astrocytoma. (22562196)
2012
13
Everolimus tablets for patients with subependymal giant cell astrocytoma. (21806479)
2011
14
Subependymal giant cell astrocytoma with oncocytic change. (21210236)
2011
15
Surgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complex. (21845566)
2011
16
Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. (21465222)
2011
17
mTOR inhibitors in the treatment of subependymal giant-cell astrocytomas associated with tuberous sclerosis. (21792104)
2011
18
Bulky subependymal giant cell astrocytoma with profuse blood supply without tuberous sclerosis. (20956931)
2010
19
Fornix damage from solitary subependymal giant cell astrocytoma causing postoperative amnesic syndrome. (19684542)
2009
20
Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. (18673443)
2009
21
Subependymal giant cell astrocytoma with intratumoral hemorrhage in the absence of tuberous sclerosis. (18395450)
2008
22
Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells. (18629509)
2008
23
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. (18952591)
2008
24
Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. (16714726)
2006
25
Subependymal giant cell astrocytoma. (17144395)
2006
26
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. (16237225)
2005
27
Immunohistochemical study of central neurocytoma, subependymoma, and subependymal giant cell astrocytoma. (16078101)
2005
28
Tuberous sclerosis and subependymal giant cell astrocytoma. (16038234)
2005
29
Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins. (15203749)
2004
30
Subependymal giant cell astrocytoma with cranial and spinal metastases in a patient with tuberous sclerosis. Case report. (15287462)
2004
31
Subependymal giant cell astrocytoma with positive tuberin expression--case report. (14723270)
2003
32
Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. (11322123)
2001
33
Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. (11519851)
2001
34
Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. (10671130)
2000
35
Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. (10396738)
1999
36
Test and teach. Number ninety one: Part 1. Subependymal giant cell astrocytoma. (10212917)
1999
37
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. (9568761)
1998
38
Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report. (9795959)
1998
39
Subependymal giant cell astrocytoma: a clinicopathologic study with HMB45 and MIB-1 immunohistochemical analysis. (9110292)
1997
40
Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. (9595853)
1997
41
Immunohistochemical characterization of subependymal giant cell astrocytomas. (8928613)
1996
42
Hemorrhagic subependymal giant cell astrocytoma. (7761172)
1995
43
Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. (8546029)
1995
44
Subependymal giant cell astrocytoma with tuberous sclerosis--case report. (7799469)
1994
45
The cystic growth of a subependymal giant-cell astrocytoma with tuberous sclerosis. (1405432)
1992
46
Neonatal subependymal giant cell astrocytoma associated with tuberous sclerosis: MRI, CT, and ultrasound correlation. (1985277)
1991
47
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989
48
Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report. (3772487)
1986
49
Paratesticular neuroblastoma associated with subependymal giant cell astrocytoma. (7452809)
1980
50
Recurrent subependymal giant-cell astrocytoma in the absence of tuberous sclerosis. Case report. (758371)
1979

Genetic Variations for Subependymal Giant Cell Astrocytoma

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Expression for genes affiliated with Subependymal Giant Cell Astrocytoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Subependymal Giant Cell Astrocytoma

Search GEO for disease gene expression data for Subependymal Giant Cell Astrocytoma.

Pathways for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 12EMD Millipore, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TSC2, TSC1
29.7MTOR, TSC1, TSC2
3
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9.7MTOR, TSC1, TSC2
4
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9.7MTOR, TSC1, TSC2
59.4TP53, TSC2, TSC1
6
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9.3TSC2, GFAP, MTOR, S100B
7
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9.3TP53, TSC2, MTOR
8
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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9.1MTOR, MAP2, TP53
9
Hide members
9.0TP53, TSC2, TSC1, MTOR
109.0TP53, TSC2, TSC1, MTOR
11
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9.0TP53, TSC2, TSC1, MTOR
129.0TP53, TSC2, TSC1, MTOR
139.0TP53, TSC2, TSC1, MTOR
149.0MTOR, TSC1, TSC2, TP53
159.0MTOR, TSC1, TSC2, TP53
169.0TP53, GFAP, VIM
17
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9.0VIM, NES, MAP2, GFAP
188.6MTOR, MAP2, TSC1, TSC2, TP53
19
Hide members
8.0CCK, S100B, NPY, MTOR, SST, GFAP
207.3ENO2, CALB1, S100B, NPY, FABP7, SYP

Compounds for genes affiliated with Subependymal Giant Cell Astrocytoma

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show top 50)    (show all 124)
idCompoundScoreTop Affiliating Genes
1estrogen4410.2MAP2, GFAP
2streptozotocin449.6NES, GFAP, SYP, SST
3creatinine449.6SGCA, GFAP, SYP, NPY
4eosin449.4VIM, GFAP, S100B
5reticulin449.4S100B, VIM, SYP, GFAP
6nmda44 2810.3VIM, SYP, GFAP, MAP2
7n-acetylaspartate449.2CALB1, SYP, GFAP
8spec-t449.1ENO2, SST, GFAP, TSC1
9bethanechol44 28 1111.1SST, NPY, CCK
10dmso449.0ENO2, MAP2, NES, NPY
11s 100449.0ENO2, GFAP, SYP, S100B, VIM
12glutamate448.9CCK, CALB1, NPY, FABP7, GFAP
13forskolin44 49 1110.9NPY, CCK, GFAP, ENO2, VIM
14catecholamine448.8VIM, S100B, NPY, SYP, ENO2
15methamphetamine44 49 1110.7GFAP, MAP2, NPY, CALB1
16cocaine44 119.6NPY, MAP2, S100B, CCK, VIM, GFAP
17ganglioside448.6NES, SYP, MAP2, VIM, GFAP, ENO2
18hematoxylin448.5MAP2, GFAP, VIM, SYP, S100B, ENO2
19dbc-amp448.5GFAP, MAP2, SYP, S100B, VIM, ENO2
20tetrodotoxin44 59 2810.5GFAP, ENO2, CALB1, NPY, CCK
21kainate44 289.5NPY, NES, SYP, MAP2, GFAP, CALB1
22l-amino acid448.5ENO2, CALB1, S100B, SYP, MAP2
23vinblastine44 49 1110.5TP53, MAP2, SST, NPY, VIM
24silver448.4ENO2, GFAP, MAP2, SYP, CALB1
25acth448.4SYP, GFAP, SST, NPY, ENO2, S100B
26glucose448.3CALB1, CCK, TSC2, TSC1, GFAP, MAP2
27glutamine448.2NPY, S100B, CCK, SYP, GFAP, ENO2
28leucine448.1VIM, SYP, ENO2, GFAP, S100B, TSC2
29dopamine44 28 11 2411.0ENO2, CCK, CALB1, NPY, NES, MAP2
30acetylcholine44 49 28 11 2412.0ENO2, SST, SYP, NES, CALB1, CCK
31lactate447.9ENO2, S100B, NPY, SST, MAP2, VIM
32formaldehyde44 248.8VIM, CALB1, NPY, SYP, ENO2, GFAP
33bromodeoxyuridine447.7CALB1, ENO2, GFAP, MAP2, NES, S100B
34glycogen44 248.7VIM, S100B, MTOR, SYP, MAP2, GFAP
35potassium44 11 249.7GFAP, CALB1, S100B, SYP, MAP2, ENO2
36lipid447.7GFAP, MTOR, SYP, ENO2, NES, TSC2
37progesterone44 59 28 11 2411.6GFAP, TP53, MAP2, SYP, NES, S100B
38adenylate447.5S100B, GFAP, TSC2, ENO2, MAP2, SST
39norepinephrine44 11 249.4CALB1, CCK, ENO2, MAP2, SYP, NPY
405-hydroxytryptamine447.4CCK, CALB1, SYP, VIM, NPY, SST
41arginine447.4SST, TSC2, TP53, GFAP, MTOR, NPY
42paraffin447.0SYP, NES, NPY, S100B, VIM, MAP2
43atp44 288.0TSC2, VIM, CALB1, S100B, NPY, MTOR
44dexamethasone44 49 28 119.9ENO2, SST, SYP, MTOR, S100B, CALB1
45choline44 11 248.8ENO2, GFAP, MAP2, SST, SYP, NPY
46tyrosine446.5MTOR, GFAP, ENO2, TSC1, TSC2, CCK
47vegf446.4TSC1, NES, TP53, TSC2, SST, MAP2
48gaba446.2ENO2, GFAP, MAP2, SST, SYP, NES
49testosterone44 59 11 249.1TSC2, ENO2, GFAP, MAP2, SST, SYP
50retinoic acid44 246.2GFAP, MTOR, SYP, SST, MAP2, ENO2

GO Terms for genes affiliated with Subependymal Giant Cell Astrocytoma

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16Gene 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:0058829.1VIM, NES, GFAP
3neuronal cell bodyGO:0430258.1TSC2, MAP2, SST, FABP7, S100B, CALB1
4cytosolGO:0058296.9CALB1, MTOR, GFAP, ENO2, TSC1, TSC2
5cytoplasmGO:0057376.7VIM, S100B, FABP7, NES, MTOR, MAP2

Biological processes related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:0457929.9TSC2, TSC1, MTOR
2regulation of protein kinase activityGO:0458599.9TSC1, MTOR
3Bergmann glial cell differentiationGO:0600209.9GFAP, VIM
4astrocyte developmentGO:0140029.8GFAP, VIM
5intermediate filament organizationGO:0451099.7VIM, GFAP
6positive regulation of protein oligomerizationGO:0324619.6TP53, CCK
7axonogenesisGO:0074099.6CCK, S100B, MAP2
8central nervous system neuron developmentGO:0219549.5MAP2, NPY
9positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3TP53, MTOR, CCK
10cellular response to organic substanceGO:0713109.2MAP2, SYP, CALB1
11cellular response to hypoxiaGO:0714569.2TP53, MTOR, S100B
12central nervous system developmentGO:0074179.2TP53, NES, S100B
13negative regulation of cell proliferationGO:0082859.0FABP7, SST, TSC1, TSC2, TP53

Products for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources for Subependymal Giant Cell Astrocytoma

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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