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MCID: SBP001
MIFTS: 50

Subependymal Giant Cell Astrocytoma

Categories: Cancer diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Subependymal Giant Cell Astrocytoma

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MalaCards integrated aliases for Subependymal Giant Cell Astrocytoma:

Name: Subependymal Giant Cell Astrocytoma 12 54 60 38 15 74
Sega 12 54 60
Astrocytoma Subependymal Giant Cell 56
Subependymal Giant-Cell Astrocytoma 6

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5077
KEGG 38 H01692
MeSH 45 D001254
NCIt 51 C3696
SNOMED-CT 69 1586004
ICD10 via Orphanet 35 D43.2
UMLS via Orphanet 75 C0205768
Orphanet 60 ORPHA251618
UMLS 74 C0205768
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Summaries for Subependymal Giant Cell Astrocytoma

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MalaCards based summary : Subependymal Giant Cell Astrocytoma, also known as sega, is related to tuberous sclerosis 1 and angiomyolipoma, and has symptoms including seizures and headache. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and mTOR signaling pathway (KEGG). The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and spinal cord, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 77 Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor... more...

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Related Diseases for Subependymal Giant Cell Astrocytoma

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

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 31.5 MTOR TSC1 TSC2
2 angiomyolipoma 30.7 MTOR TSC1 TSC2
3 kidney angiomyolipoma 30.7 MTOR TSC1 TSC2
4 giant cell glioblastoma 30.6 GFAP SYP
5 gemistocytic astrocytoma 30.6 GFAP S100B
6 tuberous sclerosis 30.6 GFAP MTOR S100B SYP TSC1 TSC2
7 obstructive hydrocephalus 30.4 GFAP SYP
8 hydrocephalus 30.1 ENO2 GFAP NES SYP
9 central neurocytoma 29.8 ENO2 GFAP NES SYP
10 subependymoma 29.5 ENO2 GFAP NES SYP TSC2
11 astrocytoma 11.2
12 epilepsy 10.4
13 ileum cancer 10.4 ENO2 GFAP
14 scrapie 10.4 ENO2 GFAP
15 dysgerminoma of ovary 10.4 ENO2 GFAP
16 juvenile pilocytic astrocytoma 10.4 ENO2 GFAP
17 alexander disease 10.4 GFAP MTOR
18 primitive neuroectodermal tumor of the cervix uteri 10.3 ENO2 GFAP
19 melanotic medulloblastoma 10.3 ENO2 GFAP
20 meningioma, radiation-induced 10.3 GFAP S100B
21 myoepithelioma 10.3 GFAP S100B
22 pilomatrixoma 10.3 ENO2 S100B
23 cerebellar medulloblastoma 10.3 ENO2 GFAP
24 spondylosis 10.3 ENO2 S100B
25 extraosseous ewing's sarcoma 10.3 ENO2 S100B
26 meningeal melanocytoma 10.3 ENO2 S100B
27 acute mountain sickness 10.3 ENO2 S100B
28 plexiform schwannoma 10.3 ENO2 GFAP
29 pineoblastoma 10.3 GFAP SYP
30 atypical teratoid rhabdoid tumor 10.3 GFAP SYP
31 cerebellopontine angle tumor 10.3 GFAP SYP
32 pilomyxoid astrocytoma 10.3 GFAP SYP
33 pleomorphic xanthoastrocytoma 10.3 GFAP SYP
34 binswanger's disease 10.3 GFAP SYP
35 chondrosarcoma, extraskeletal myxoid 10.3 ENO2 SYP
36 microcystic meningioma 10.3 ENO2 GFAP
37 connective tissue benign neoplasm 10.3 ENO2 SYP
38 malignant pheochromocytoma 10.3 ENO2 SYP
39 mixed cell type cancer 10.3 ENO2 SYP
40 adrenal rest tumor 10.3 ENO2 SYP
41 glomus tumor 10.3 ENO2 SYP
42 cranial nerve malignant neoplasm 10.3 ENO2 SYP
43 intraocular retinoblastoma 10.3 ENO2 SYP
44 pineal parenchymal tumor of intermediate differentiation 10.3 ENO2 SYP
45 basaloid squamous cell carcinoma 10.3 ENO2 SYP
46 cervix small cell carcinoma 10.3 ENO2 SYP
47 mixed ductal-endocrine carcinoma 10.3 ENO2 SYP
48 congenital hydrocephalus 10.3
49 heparin-induced thrombocytopenia 10.3
50 carcinoid syndrome 10.3 ENO2 SYP

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



Diseases related to Subependymal Giant Cell Astrocytoma
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Symptoms & Phenotypes for Subependymal Giant Cell Astrocytoma

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UMLS symptoms related to Subependymal Giant Cell Astrocytoma:


seizures, headache

MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ENO2 GFAP MTOR NKX2-1 S100B SYP
2 nervous system MP:0003631 9.5 ENO2 GFAP MTOR NKX2-1 SYP TSC1
3 normal MP:0002873 9.1 GFAP MTOR NKX2-1 S100B SYP TSC2
Sources

Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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Drugs for Subependymal Giant Cell Astrocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 46835353 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 70789204 6442177
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
6 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
10
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
11
Ondansetron Approved Phase 3 99614-02-5 4595
12
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
13
Cisplatin Approved Phase 3,Phase 1 15663-27-1 2767 441203 84093
14
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
15
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 1177-87-3
16
Histamine Approved, Investigational Phase 3 51-45-6 774
17
Cyproheptadine Approved Phase 3 129-03-3 2913
18 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
19 Dermatologic Agents Phase 3,Phase 1
20 Narcotics Phase 3
21 Adjuvants, Anesthesia Phase 3
22 Analgesics Phase 3,Phase 1
23 Anesthetics, Intravenous Phase 3
24 Liver Extracts Phase 3,Phase 1,Phase 2
25 Anesthetics, General Phase 3
26 Anesthetics Phase 3
27 Analgesics, Opioid Phase 3
28 Central Nervous System Depressants Phase 3
29 Peripheral Nervous System Agents Phase 3,Phase 1
30 Cola Phase 3
31 Gastrointestinal Agents Phase 3,Phase 1,Not Applicable
32 Antiemetics Phase 3,Phase 1
33 Emetics Phase 3
34 BB 1101 Phase 3,Phase 2,Phase 1
35 Autonomic Agents Phase 3,Phase 1
36 Neurotransmitter Agents Phase 3,Early Phase 1,Not Applicable
37 Histamine Antagonists Phase 3
38 Serotonin Agents Phase 3
39 Serotonin Antagonists Phase 3
40 Anti-Allergic Agents Phase 3
41 Antipruritics Phase 3
42 Histamine H1 Antagonists Phase 3
43
Histamine Phosphate Phase 3 51-74-1 65513
44
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
45
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
46
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
47
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
48
Bevacizumab Approved, Investigational Phase 2 216974-75-3
49
Modafinil Approved, Investigational Phase 2 68693-11-8 4236
50
Sodium Citrate Approved, Investigational Phase 2 68-04-2

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Long-term Follow-up for Growth and Development of Pediatric Patients From CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
2 Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) Completed NCT00789828 Phase 3 Everolimus;Placebo
3 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
4 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
5 Acupressure in Controlling Nausea in Young Patients Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
6 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
7 Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer Unknown status NCT02188550 Phase 2 everolimus and letrozole
8 Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
9 Everolimus in Treating Patients With Recurrent Low-Grade Glioma Completed NCT00823459 Phase 2 Everolimus
10 Erlotinib and Temsirolimus in Treating Patients With Recurrent Malignant Glioma Completed NCT00112736 Phase 1, Phase 2 erlotinib;temsirolimus
11 Sunitinib Malate in Treating Younger Patients With Recurrent, Refractory, or Progressive Malignant Glioma or Ependymoma Completed NCT01462695 Phase 2 Sunitinib Malate
12 Bevacizumab in Recurrent Grade II and III Glioma Completed NCT01164189 Phase 2 Temozolomide
13 Armodafinil in Treating Fatigue Caused By Radiation Therapy in Patients With Primary Brain Tumors Completed NCT01032200 Phase 2 Armodafinil
14 Tamoxifen, Carboplatin, and Topotecan in Treating Patients With CNS Metastases or Recurrent Brain or Spinal Cord Tumors Completed NCT00541138 Phase 2 carboplatin;tamoxifen citrate;topotecan hydrochloride
15 Temozolomide in Treating Patients With Recurrent Glioblastoma Multiforme or Other Malignant Glioma Completed NCT00498927 Phase 2 temozolomide
16 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
17 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
18 Everolimus, Temozolomide, and Radiation Therapy in Treating Patients With Newly Diagnosed Glioblastoma Active, not recruiting NCT00553150 Phase 1, Phase 2 everolimus;temozolomide
19 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
20 Photodynamic Therapy With Porfimer Sodium in Treating Patients With Refractory Brain Tumors Unknown status NCT00002647 Phase 1 verteporfin
21 Lonafarnib and Temozolomide in Treating Patients With Recurrent Primary Supratentorial Gliomas Unknown status NCT00083096 Phase 1 lonafarnib;temozolomide
22 Erlotinib Alone or in Combination With Radiation Therapy in Treating Young Patients With Refractory or Relapsed Malignant Brain Tumors or Newly Diagnosed Brain Stem Glioma Unknown status NCT00360854 Phase 1 erlotinib hydrochloride
23 Alisertib and Fractionated Stereotactic Radiosurgery in Treating Patients With Recurrent High Grade Gliomas Completed NCT02186509 Phase 1 Alisertib
24 RO4929097, Temozolomide, and Radiation Therapy in Treating Patients With Newly Diagnosed Malignant Glioma Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
25 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
26 Vorinostat and Bortezomib in Treating Young Patients With Refractory or Recurrent Solid Tumors, Including Central Nervous System Tumors and Lymphoma Completed NCT00994500 Phase 1 vorinostat;bortezomib
27 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
28 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
29 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
30 Cilengitide in Treating Children With Refractory Primary Brain Tumors Completed NCT00063973 Phase 1 cilengitide
31 Temozolomide and O6-Benzylguanine in Treating Children With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
32 Cellular Adoptive Immunotherapy Using Genetically Modified T-Lymphocytes in Treating Patients With Recurrent or Refractory High-Grade Malignant Glioma Completed NCT00730613 Phase 1
33 Bortezomib and Temozolomide in Treating Patients With Brain Tumors or Other Solid Tumors That Have Not Responded to Treatment Completed NCT00544284 Phase 1 bortezomib;temozolomide
34 Erlotinib and Sirolimus in Treating Patients With Recurrent Malignant Glioma Completed NCT00509431 Phase 1 Erlotinib + Sirolimus
35 Sodium Stibogluconate and IFNa-2b Followed By CDDP, VLB and DTIC Treating Pts.With Advanced Melanoma or Other Cancers Completed NCT00498979 Phase 1 cisplatin;sodium stibogluconate;dacarbazine;vinblastine
36 Tumor Tissue Analysis in Patients Receiving Imatinib Mesylate for Malignant Glioma Completed NCT00401024 Phase 1 imatinib mesylate
37 Imetelstat Sodium in Treating Young Patients With Refractory or Recurrent Solid Tumors or Lymphoma Completed NCT01273090 Phase 1 imetelstat sodium
38 PTC299 in Treating Young Patients With Refractory or Recurrent Primary Central Nervous System Tumors Completed NCT01158300 Phase 1 VEGF inhibitor PTC299
39 Enzastaurin in Treating Young Patients With Refractory Primary CNS Tumors Completed NCT00503724 Phase 1 enzastaurin hydrochloride
40 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
41 Phase I/Ib Dose Escalation & Biomarker Study of Ceritinib (LDK378) + Everolimus for Locally Advanced or Metastatic Solid Tumors With an Expansion in Non-Small Cell Lung Cancer (NSCLC) Characterized by Abnormalities in Anaplastic Lymphoma Kinase (ALK) Expression Recruiting NCT02321501 Phase 1 Ceritinib (LDK378);Ceritinib (LDK378) 750 mg;Everolimus
42 A Phase 1 Trial of Vandetanib (a Multi-kinase Inhibitor of EGFR, VEGFR and RET Inhibitor) in Combination With Everolimus (an mTOR Inhibitor) in Advanced Cancer Recruiting NCT01582191 Phase 1 Vandetanib;Everolimus
43 Sirolimus or Everolimus or Temsirolimus and Vorinostat in Advanced Cancer Active, not recruiting NCT01087554 Phase 1 Sirolimus;Vorinostat;Everolimus;Temsirolimus
44 Gamma-Secretase Inhibitor RO4929097 in Treating Young Patients With Relapsed or Refractory Solid Tumors, CNS Tumors, Lymphoma, or T-Cell Leukemia Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
45 Topotecan in Treating Young Patients With Neoplastic Meningitis Due to Leukemia, Lymphoma, or Solid Tumors Terminated NCT00112619 Phase 1 topotecan hydrochloride
46 Study of Blood and Cheek Cell Samples From Patients With Glioma Completed NCT01009307
47 Study of Blood Samples and Risk of Infection in Patients With Newly Diagnosed Malignant Supratentorial Astrocytoma Completed NCT00999622
48 Study of Tissue Samples From Patients With Glioma or Other Brain Tumors Completed NCT00967200
49 Metabolic Syndrome in Childhood Cancer Survivors Completed NCT00920738
50 Changes in Semen or Sperm Caused by Temozolomide in Patients With Newly Diagnosed, Progressive, or Recurrent Primary Malignant Brain Tumors Completed NCT00499798

Search NIH Clinical Center for Subependymal Giant Cell Astrocytoma

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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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MalaCards organs/tissues related to Subependymal Giant Cell Astrocytoma:

42
Brain, Kidney, Spinal Cord, Bone, Pineal, Ovary, Testis
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Publications for Subependymal Giant Cell Astrocytoma

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Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50) (show all 152)
# Title Authors Year
1
Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies. ( 29569806 )
2018
2
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. ( 30550347 )
2018
3
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )
2018
4
Subependymal Giant Cell Astrocytoma: A Surveillance, Epidemiology, and End Results Program-Based Analysis from 2004 to 2013. ( 29966782 )
2018
5
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. ( 29973652 )
2018
6
The level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures. ( 30509037 )
2018
7
Efficacy and safety of everolimus in patients younger than 12 months with congenital subependymal giant cell astrocytoma. ( 29395661 )
2018
8
Trapped ventricle after laser ablation of a subependymal giant cell astrocytoma complicated by intraventricular gadolinium extravasation: case report. ( 29451453 )
2018
9
Atypical subependymal giant cell astrocytoma and neonatal tuberous sclerosis. ( 29555882 )
2018
10
Presurgical Administration of mTOR Inhibitors in Patients with Large Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex. ( 28866062 )
2017
11
Subependymal Giant Cell Astrocytoma: Associated Hyperproteinorrhachia Causing Shunt Failures and Nonobstructive Hydrocephalus - Report of Successful Treatment with Long-term Follow-up. ( 29114301 )
2017
12
Maintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study). ( 27860334 )
2017
13
Thyroid transcription factor-1 distinguishes subependymal giant cell astrocytoma from its mimics and supports its cell origin from the progenitor cells in the medial ganglionic eminence. ( 27910945 )
2017
14
Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation. ( 28074282 )
2017
15
Acute Management of Symptomatic Subependymal Giant Cell Astrocytoma With Everolimus. ( 28511812 )
2017
16
Subependymal Giant Cell Astrocytoma Presenting with Tumoral Bleeding: A Case Report. ( 28516078 )
2017
17
What are the true volumes of SEGA tumors? Reliability of planimetric and popular semi-automated image segmentation methods. ( 28321524 )
2017
18
Screening for frailty in community-dwelling elderly subjects: Predictive validity of the modified SEGA instrument. ( 28822918 )
2017
19
Response to: S. Sega-Jazbec et al.: "Management of infusion related reactions associated with alemtuzumab in patients with multiple sclerosis" Multiple Sclerosis and Related Disorders 2017. ( 29055453 )
2017
20
Subependymal giant cell astrocytoma (SEGA): a case report and review of the literature. ( 26861567 )
2016
21
Retraction Note to: Subependymal giant cell astrocytoma: current concepts, management, and future directions. ( 26922080 )
2016
22
Mammalian Target of Rapamycin Inhibitor Induced Complete Remission of a Recurrent Subependymal Giant Cell Astrocytoma in a Patient Without Features of Tuberous Sclerosis Complex. ( 26929034 )
2016
23
Imaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis. ( 26942030 )
2016
24
Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. ( 27013816 )
2016
25
Variability of Dose and Level of Sirolimus in a Patient With Tuberous Sclerosis Complex and Subependymal Giant Cell Astrocytoma. ( 27082208 )
2016
26
Subependymal giant cell astrocytoma: a lesion with activated mTOR pathway and constant expression of glutamine synthetase. ( 27390104 )
2016
27
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex. ( 27502586 )
2016
28
Role of mTOR signaling pathway in the pathogenesis of subependymal giant cell astrocytoma - A study of 28 cases. ( 27625244 )
2016
29
Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: Case report. ( 27690251 )
2016
30
Laser interstitial thermal therapy for subependymal giant cell astrocytoma: technical case report. ( 27690646 )
2016
31
Association between the growth rate of subependymal giant cell astrocytoma and age in patients with tuberous sclerosis complex. ( 26552385 )
2016
32
Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures. ( 27014996 )
2016
33
Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. ( 26706014 )
2015
34
Erk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma. ( 25909870 )
2015
35
Dose-level response rates of mTor inhibition in tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA). ( 25929843 )
2015
36
The clinical characteristics of subependymal giant cell astrocytoma: five cases. ( 25977907 )
2015
37
Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report. ( 25978531 )
2015
38
Pathological Findings of a Subependymal Giant Cell Astrocytoma Following Treatment With Rapamycin. ( 26173783 )
2015
39
Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. ( 26381530 )
2015
40
Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex. ( 25143481 )
2015
41
Thyroid transcription factor-1 and epithelial membrane antigen expression in four cases of subependymal giant cell astrocytoma. ( 25195621 )
2015
42
Direct medical costs for patients with tuberous sclerosis complex and surgical resection of subependymal giant cell astrocytoma: a US national cohort study. ( 25525770 )
2015
43
The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1. ( 24729041 )
2014
44
An unusually aggressive clinical behavior in a case of atypical subependymal giant cell astrocytoma. ( 25387628 )
2014
45
Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. ( 25456370 )
2014
46
Response of subependymal giant cell astrocytoma with spinal cord metastasis to everolimus. ( 24276039 )
2014
47
Everolimus for the treatment of subependymal giant cell astrocytoma probably causing seizure aggravation in a child with tuberous sclerosis complex: a case report. ( 24293099 )
2014
48
Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients. ( 24507694 )
2014
49
Subependymal giant cell astrocytoma: current concepts, management, and future directions. ( 24549759 )
2014
50
Mitotic activity in subependymal giant cell astrocytoma. ( 23239637 )
2014
Sources

Variations for Subependymal Giant Cell Astrocytoma

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ClinVar genetic disease variations for Subependymal Giant Cell Astrocytoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.2585_2602del18 (p.Gln862_Asp867del) deletion Uncertain significance rs767951499 GRCh37 Chromosome 19, 13409848: 13409865
2 CACNA1A NM_001127221.1(CACNA1A): c.2585_2602del18 (p.Gln862_Asp867del) deletion Uncertain significance rs767951499 GRCh38 Chromosome 19, 13299034: 13299051
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Expression for Subependymal Giant Cell Astrocytoma

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

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Pathways related to Subependymal Giant Cell Astrocytoma according to KEGG:

38
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
mTOR signaling pathway (KEGG) 38
Show member pathways
 12.27 MTOR TSC1 TSC2
2
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.21 MTOR TSC1 TSC2
3
mTOR signalling 67
Show member pathways
 12.19 MTOR TSC1 TSC2
4
Phospholipase D signaling pathway 38
Show member pathways
 12.17 MTOR TSC1 TSC2
5
Development IGF-1 receptor signaling 23
Show member pathways
 12.16 MTOR TSC1 TSC2
6
Type I Interferon Signaling Pathways 66
Show member pathways
 12.07 MTOR TSC1 TSC2
7
Translational Control 4
12.03 MTOR TSC1 TSC2
8
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 11.98 MTOR TSC1 TSC2
9
AMPK Enzyme Complex Pathway 65
Show member pathways
 11.96 MTOR TSC1 TSC2
10
Cellular senescence (KEGG) 38
11.92 MTOR TSC1 TSC2
11
AKT Signaling Pathway 68
11.89 MTOR TSC1 TSC2
12
Neuroscience 4
11.89 ENO2 GFAP NKX2-1 S100B SYP
13
Integrated Breast Cancer Pathway 1
11.87 MTOR TSC1 TSC2
14
Longevity regulating pathway 38
Show member pathways
 11.85 MTOR TSC1 TSC2
15
Autophagy Pathway 66
Show member pathways
 11.83 MTOR TSC1 TSC2
16
Autophagy - animal 38
11.74 MTOR TSC1 TSC2
17
Glioblastoma Multiforme 65
11.65 MTOR TSC1 TSC2
18
TP53 Regulates Metabolic Genes 67
11.51 MTOR TSC1 TSC2
19
mTOR signaling pathway (Pathway Interaction Database) 1
11.33 MTOR TSC1 TSC2
20
TBC/RABGAPs 67
11.31 TSC1 TSC2
21
ATM Signaling Network in Development and Disease 1
11.3 MTOR TSC2
22
Wnt Signaling Pathway Netpath 1
11.22 MTOR TSC1 TSC2
23
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.07 MTOR TSC2
24
LKB1 signaling events 1
11.06 MTOR TSC1 TSC2
25
Follicle Stimulating Hormone (FSH) signaling pathway 1
11.01 MTOR TSC2
26
BDNF-TrkB Signaling 1
10.86 MTOR TSC1 TSC2
27
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 66
10.82 GFAP NES S100B SYP
28
4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression 1
10.78 MTOR TSC1
Sources

GO Terms for Subependymal Giant Cell Astrocytoma

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Cellular components related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.65 MTOR NES NKX2-1
2 long-term synaptic potentiation GO:0060291 9.49 GFAP S100B
3 negative regulation of TOR signaling GO:0032007 9.46 TSC1 TSC2
4 negative regulation of insulin receptor signaling pathway GO:0046627 9.43 TSC1 TSC2
5 positive regulation of macroautophagy GO:0016239 9.4 TSC1 TSC2
6 regulation of protein kinase activity GO:0045859 9.37 MTOR TSC1
7 regulation of neuronal synaptic plasticity GO:0048168 9.32 S100B SYP
8 positive regulation of glial cell proliferation GO:0060252 9.26 GFAP MTOR
9 negative regulation of macroautophagy GO:0016242 9.16 MTOR TSC1
10 anoikis GO:0043276 8.96 MTOR TSC2
11 negative regulation of cell size GO:0045792 8.62 MTOR TSC1

Molecular functions related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.62 TSC1 TSC2
Sources

Sources for Subependymal Giant Cell Astrocytoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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