SEGA
MCID: SBP001
MIFTS: 54

Subependymal Giant Cell Astrocytoma (SEGA) malady

Rare diseases, Neuronal diseases, Cancer diseases categories
Download this MalaCard

Summaries for Subependymal Giant Cell Astrocytoma

About this section


Fully expand this MalaCard
MalaCards based summary: Subependymal Giant Cell Astrocytoma, also known as SEGA, is related to tuberous sclerosis complex and giant cell glioblastoma. An important gene associated with Subependymal Giant Cell Astrocytoma is FABP7 (fatty acid binding protein 7, brain), and among its related pathways are FSH signaling pathway and Insulin receptor signalling cascade. The compounds reticulin and eosin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and thyroid, and related mouse phenotypes are renal/urinary system and no phenotypic analysis.

Aliases & Classifications for Subependymal Giant Cell Astrocytoma

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 44Novoseek, 34MeSH, 39NCIt, 57SNOMED-CT, 63UMLS via Orphanet
See all sources

Subependymal Giant Cell Astrocytoma, Aliases & Descriptions:

Name: Subependymal Giant Cell Astrocytoma 8 42 10 48 62
Sega 8 42 48
 
Astrocytoma Subependymal Giant Cell 44


Classifications:

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


External Ids:

Disease Ontology8 DOID:5077
MeSH34 D001254
SNOMED-CT57 1586004
NCIt39 C3696
UMLS via Orphanet63 C0205768

Related Diseases for Subependymal Giant Cell Astrocytoma

About this section

Diseases related to Subependymal Giant Cell Astrocytoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex32.4TSC2, TSC1
2giant cell glioblastoma31.4GFAP
3subependymoma31.4TSC2
4gemistocytic astrocytoma31.1GFAP, S100B
5angiomyolipoma31.1TSC1, MTOR, TSC2, VIM
6neuroblastoma30.9ENO2, SYP, TP53
7astrocytoma30.7S100B, GFAP, TP53, VIM, NES, TSC2
8central neurocytoma30.7MAP2, SYP, GFAP
9tuberous sclerosis30.7GFAP, VIM, NES, TSC2, TSC1, MTOR
10retinoblastoma29.8MAP2, GFAP, TP53, MTOR, SYP, ENO2
11glioblastoma29.6GFAP, TP53, MAP2, CCK, S100B, MTOR
12gliomatosis cerebri10.6GFAP
13dysembryoplastic neuroepithelial tumor10.6SYP
14melanotic neuroectodermal tumor10.6SYP
15mixed glioma10.6GFAP
16perivascular epithelioid cell tumor10.5TSC2
17alexander disease10.5GFAP
18medulloepithelioma10.5SYP
19somatostatinoma10.5SST
20cerebral primitive neuroectodermal tumor10.5ENO2
21epulis10.5ENO2
22lymphangioleiomyomatosis10.5TSC2, TSC1
23intestinal disease10.4SST
24pineoblastoma10.4GFAP, SYP
25infantile epileptic encephalopathy10.4TSC1, TSC2
26binswanger's disease10.4GFAP, SYP
27gliosarcoma10.4GFAP
28cystic kidney10.4TSC1, TSC2
29cowden disease10.4TSC2, TSC1
30syringoma10.4S100B, GFAP
31huntington's disease10.4SST, NPY
32gallbladder disease10.4CCK, TSC1
33myxopapillary ependymoma10.4S100B, GFAP
34lymphedema10.4
35thyroiditis10.4
36choroid plexus carcinoma10.4GFAP, S100B
37neurilemmoma10.4GFAP, ENO2
38anaplastic ependymoma10.4GFAP, S100B
39pancreatic islet cell tumors10.4SYP, SST
40endocrine gland cancer10.3SST, SYP
41von hippel-lindau disease10.3NPY, TSC2
42hydrocephalus10.3TSC1, NES
43kidney angiomyolipoma10.3TSC2, MTOR, TSC1
44bulimia nervosa10.3CCK, NPY
45peutz-jeghers syndrome10.3TSC2, TSC1, MTOR
46polycystic kidney disease10.3MTOR, TSC1, TSC2
47polycystic kidney disease, autosomal dominant10.3TSC2, MTOR, TSC1
48temporal lobe epilepsy10.3CALB1, GFAP, NPY
49status epilepticus10.3ENO2, NPY
50rhabdoid meningioma10.3VIM, 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

About this section

Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

About this section

Drug clinical trials:

Search ClinicalTrials for Subependymal Giant Cell Astrocytoma

Search NIH Clinical Center for Subependymal Giant Cell Astrocytoma

Genetic Tests for Subependymal Giant Cell Astrocytoma

About this section

Anatomical Context for Subependymal Giant Cell Astrocytoma

About this section

MalaCards organs/tissues related to Subependymal Giant Cell Astrocytoma:

32
Brain, Spinal cord, Thyroid, Skin, Testes

Animal Models for Subependymal Giant Cell Astrocytoma or affiliated genes

About this section

MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7TSC1, NPY, TSC2, MTOR, TP53
2MP:00030128.4SST, FABP7, CCK, TP53, SYP, MTOR
3MP:00053808.3MTOR, TSC1, TSC2, NES, TP53, VIM
4MP:00053888.3TSC1, MTOR, TP53, VIM, ENO2
5MP:00053847.6NES, MTOR, TSC1, TSC2, VIM, TP53
6MP:00107687.3MAP2, VIM, MTOR, NES, TSC2, TSC1
7MP:00053767.2SST, GFAP, TP53, VIM, FABP7, TSC2
8MP:00053787.1GFAP, NES, TSC2, TSC1, SST, MTOR
9MP:00028737.1S100B, CALB1, SYP, MTOR, SST, TSC2
10MP:00053865.2MAP2, CALB1, S100B, ENO2, NPY, NES
11MP:00036314.9TP53, NPY, ENO2, GFAP, CALB1, MAP2

Publications for Subependymal Giant Cell Astrocytoma

About this section

Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Thyroid transcription factor-1 and epithelial membrane antigen expression in four cases of subependymal giant cell astrocytoma. (25195621)
2014
2
A management strategy for intraventricular subependymal giant cell astrocytomas in tuberous sclerosis complex. (24180681)
2014
3
Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex. (25143481)
2014
4
Resection of subependymal giant cell astrocytoma guided by intraoperative magnetic resonance imaging and neuronavigation. (23397586)
2013
5
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
6
Subependymal giant cell astrocytoma associated with tuberous sclerosis presenting with intratumoral bleeding. Case report and review of literature. (23138436)
2013
7
Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors. (24056156)
2013
8
Response of Subependymal Giant Cell Astrocytoma With Spinal Cord Metastasis to Everolimus. (24276039)
2013
9
Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. (22805244)
2013
10
Subependymal giant cell astrocytoma with intratumoral hemorrhage. (23414132)
2013
11
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. (24143074)
2013
12
Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. (23325902)
2013
13
Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. (23567018)
2013
14
Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. (22375958)
2012
15
Subependymal giant cell astrocytoma: Cytological findings. (23326038)
2012
16
Squash cytology of subependymal giant cell astrocytoma: report of four cases with brief review of literature. (22431322)
2012
17
Mitotic activity in subependymal giant cell astrocytoma. (23239637)
2012
18
Everolimus tablets for patients with subependymal giant cell astrocytoma. (21806479)
2011
19
Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex. (21415462)
2011
20
Bulky subependymal giant cell astrocytoma with profuse blood supply without tuberous sclerosis. (20956931)
2010
21
Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. (20887114)
2010
22
Neonatal subependymal giant cell astrocytoma: new case and review of literature. (17275668)
2007
23
Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas. (17071037)
2007
24
Cytologic characteristics of subependymal giant cell astrocytoma in squash smears: morphometric comparisons with gemistocytic astrocytoma and giant cell glioblastoma. (17536538)
2007
25
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. (15851742)
2005
26
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. (15624760)
2004
27
Subependymal giant cell astrocytoma with positive tuberin expression--case report. (14723270)
2003
28
Rapid regrowth of solitary subependymal giant cell astrocytoma--case report. (12064158)
2002
29
Secondary parathyroid hyperplasia in tuberous sclerosis: report of a case with large eosinophilic ganglion-like cells similar to those of subependymal giant cell astrocytoma, tubers, and atypical angiomyolipoma. (11812950)
2002
30
Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. (11322123)
2001
31
Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. (10396738)
1999
32
Image interpretation session: 1998. Tuberous sclerosis with multiple bilateral renal cysts and a subependymal giant cell astrocytoma. (10722364)
1999
33
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. (9568761)
1998
34
Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report. (9795959)
1998
35
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. (9403714)
1997
36
Immunohistochemical characterization of subependymal giant cell astrocytomas. (8928613)
1996
37
Hemorrhagic subependymal giant cell astrocytoma. (7761172)
1995
38
Immunohistochemical and electron microscopic study of subependymal giant cell astrocytoma. (8867692)
1995
39
A neonatal huge subependymal giant cell astrocytoma: case report. (7808622)
1994
40
Cytomorphology of subependymal giant cell astrocytoma. A case report. (8465641)
1993
41
The cystic growth of a subependymal giant-cell astrocytoma with tuberous sclerosis. (1405432)
1992
42
Tuberous sclerosis complex: oligosymptomatic variant associated with subependymal giant-cell astrocytoma. (1749677)
1991
43
Clinical and immunohistochemical studies of subependymal giant cell astrocytomas associated with tuberous sclerosis. (1705105)
1990
44
Rare subependymal giant-cell astrocytoma in a neonate with tuberous sclerosis. (2124070)
1990
45
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989
46
Subependymal giant-cell astrocytoma in children. An unusual discrepancy between histological and clinical features. (3286833)
1988
47
Subependymal giant-cell astrocytoma. A case report. (3218563)
1988
48
Paratesticular neuroblastoma associated with subependymal giant cell astrocytoma. (7452809)
1980
49
Subependymal giant-cell astrocytoma. Case report with ultrastructural study. (430139)
1979
50
Recurrent subependymal giant-cell astrocytoma in the absence of tuberous sclerosis. Case report. (758371)
1979

Variations for Subependymal Giant Cell Astrocytoma

About this section

Expression for genes affiliated with Subependymal Giant Cell Astrocytoma

About this section
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

About this section

Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TSC2, MTOR
2
Show member pathways
9.7MTOR, TSC2, TSC1
3
Show member pathways
mTOR signaling pathway37
9.7TSC2, MTOR, TSC1
49.7MTOR, TSC1, TSC2
59.7TSC2, TSC1, MTOR
69.4TSC1, TSC2, TP53
7
Show member pathways
Signal transduction PTEN pathway60
9.3MTOR, TSC2, TP53
89.3MTOR, TSC2, TP53
9
Show member pathways
9.2TSC2, S100B, GFAP, MTOR
109.1VIM, TP53, GFAP
11
Show member pathways
Signaling Pathways in Glioblastoma37
9.0TSC2, TSC1, MTOR, TP53
129.0TP53, TSC2, TSC1, MTOR
139.0TP53, TSC2, TSC1, MTOR
149.0TP53, TSC2, TSC1, MTOR
15
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.0TP53, TSC2, MTOR, TSC1
16
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.0MTOR, TSC1, TSC2, TP53
179.0MTOR, TP53, TSC2, TSC1
18
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.0MAP2, MTOR, TP53
19
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.0VIM, NES, MAP2, GFAP
20
Show member pathways
8.6TP53, GFAP, TSC1, VIM, TSC2
218.5TSC2, TSC1, MTOR, MAP2, TP53
22
Show member pathways
7.4TSC2, TSC1, GFAP, SST, CCK, MTOR
237.1CALB1, GFAP, SYP, MAP2, S100B, ENO2

Compounds for genes affiliated with Subependymal Giant Cell Astrocytoma

About this section

Compounds related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1reticulin449.4GFAP, VIM, SYP, S100B
2eosin449.4S100B, GFAP, VIM
3spec-t449.3ENO2, SST, TSC1, GFAP
4n-acetylaspartate449.2GFAP, SYP, CALB1
5streptozotocin449.0SYP, NES, VIM, GFAP, SST, NPY
6s 100448.9GFAP, VIM, SYP, S100B, ENO2
7catecholamine448.7VIM, SYP, ENO2, NPY, S100B
8ganglioside448.6SYP, ENO2, GFAP, VIM, NES, MAP2
9vinblastine44 50 1110.5MAP2, SST, VIM, TP53, NPY
10tetrodotoxin44 61 2810.5CALB1, GFAP, CCK, ENO2, NPY
11cocaine44 119.5VIM, CCK, MAP2, NPY, S100B, GFAP
12methamphetamine44 50 1110.5CALB1, GFAP, MAP2, NPY
13kainate44 289.4NPY, GFAP, NES, SYP, MAP2, CALB1
14hematoxylin448.4S100B, MAP2, SYP, VIM, GFAP, ENO2
15dbc-amp448.4ENO2, S100B, MAP2, SYP, VIM, GFAP
16acth448.4S100B, GFAP, CCK, SYP, ENO2, NPY
17silver448.3SYP, ENO2, GFAP, CALB1, MAP2
18l-amino acid448.3SYP, S100B, ENO2, MAP2, CALB1
19leucine448.2SYP, ENO2, S100B, MTOR, TSC2, VIM
20glutamine448.2S100B, GFAP, VIM, CCK, SYP, ENO2
21dmso448.2NES, NPY, ENO2, VIM, MAP2
22lactate448.0ENO2, NPY, SST, S100B, GFAP, VIM
23formaldehyde44 248.8NPY, CALB1, SYP, GFAP, VIM, ENO2
24potassium44 24 119.8ENO2, CALB1, MAP2, GFAP, SYP, S100B
25lipid447.7MTOR, NES, ENO2, GFAP, TSC2, SYP
26nmda44 288.7SYP, ENO2, NPY, CALB1, MAP2, VIM
27bromodeoxyuridine447.7S100B, ENO2, CALB1, NES, VIM, GFAP
28glycogen44 248.6SYP, MTOR, TSC1, TSC2, VIM, GFAP
295-hydroxytryptamine447.5SST, CCK, GFAP, NPY, ENO2, CALB1
30arginine447.5MTOR, CCK, S100B, TP53, GFAP, VIM
31progesterone44 28 61 24 1111.5VIM, GFAP, ENO2, S100B, MAP2, SYP
32adenylate447.4SST, NPY, S100B, GFAP, VIM, MAP2
33forskolin44 50 119.4GFAP, VIM, NPY, ENO2, S100B, CALB1
34nitric oxide44 24 119.4NES, NPY, MAP2, CALB1, S100B, SYP
35norepinephrine44 24 119.3ENO2, MAP2, SYP, CCK, NPY, CALB1
36serine447.2VIM, TSC2, S100B, TP53, GFAP, MAP2
37dexamethasone44 50 28 1110.0MTOR, SYP, VIM, CALB1, S100B, ENO2
38atp44 287.9NPY, ENO2, CALB1, MTOR, VIM, GFAP
39acetylcholine44 50 28 24 1110.9SST, CCK, NES, VIM, GFAP, NPY
40dopamine44 28 24 119.8S100B, CCK, NPY, GFAP, NES, SST
41paraffin446.8NPY, ENO2, S100B, MAP2, SYP, TSC1
42choline44 24 118.8S100B, ENO2, NPY, CALB1, MAP2, SYP
43vegf446.4ENO2, S100B, MAP2, SYP, MTOR, SST
44tyrosine446.3ENO2, TSC1, NPY, S100B, CALB1, CCK
45glucose446.3GFAP, NES, TSC2, TSC1, SST, CCK
46glutamate446.2NPY, ENO2, S100B, CALB1, MAP2, SYP
47gaba446.2SYP, MAP2, CALB1, S100B, ENO2, NPY
48testosterone44 61 24 119.0S100B, CALB1, MAP2, SYP, MTOR, CCK
49estrogen445.9NPY, ENO2, S100B, CALB1, MAP2, SYP
50retinoic acid44 246.2S100B, CALB1, MAP2, SYP, MTOR, CCK

GO Terms for genes affiliated with Subependymal Giant Cell Astrocytoma

About this section

Cellular components related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.0TSC2, TSC1
2intermediate filamentGO:0058829.2GFAP, VIM, NES
3extracellular spaceGO:0056158.5SST, CCK, S100B, ENO2, NPY
4neuronal cell bodyGO:0430258.0FABP7, S100B, CALB1, MAP2, SST, TSC2
5cytoplasmGO:0057377.0GFAP, TP53, VIM, NES, FABP7, TSC2
6cytosolGO:0058296.9GFAP, TP53, VIM, TSC2, ENO2, CALB1

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:03200710.1TSC2, TSC1
2Bergmann glial cell differentiationGO:06002010.1VIM, GFAP
3astrocyte developmentGO:01400210.0GFAP, VIM
4intermediate filament organizationGO:04510910.0GFAP, VIM
5negative regulation of cell sizeGO:04579210.0TSC2, MTOR, TSC1
6regulation of protein kinase activityGO:04585910.0TSC1, MTOR
7regulation of neuronal synaptic plasticityGO:04816810.0SYP, S100B
8central nervous system neuron developmentGO:0219549.9NPY, MAP2
9long-term synaptic potentiationGO:0602919.8GFAP, S100B
10insulin receptor signaling pathwayGO:0082869.8TSC2, TSC1, MTOR
11negative regulation of neuron projection developmentGO:0109779.8VIM, GFAP
12positive regulation of protein oligomerizationGO:0324619.7CCK, TP53
13cell cycle arrestGO:0070509.5TSC2, TSC1, TP53
14response to amino acidGO:0432009.5MTOR, SST
15axonogenesisGO:0074099.5MAP2, CCK, S100B
16positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.5MTOR, CCK, TP53
17central nervous system developmentGO:0074179.4NES, S100B, TP53
18cellular response to hypoxiaGO:0714569.4S100B, MTOR, TP53
19release of cytochrome c from mitochondriaGO:0018369.4TP53, CCK
20cellular response to organic substanceGO:0713109.2SYP, MAP2, CALB1
21negative regulation of cell proliferationGO:0082859.1TSC2, FABP7, TP53, TSC1, SST

Molecular functions related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.8NPY, CCK
2identical protein bindingGO:0428028.4S100B, SYP, VIM, TP53

Products for genes affiliated with Subependymal Giant Cell Astrocytoma

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Subependymal Giant Cell Astrocytoma

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet