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SEGA
MCID: SBP001
MIFTS: 48

Subependymal Giant Cell Astrocytoma (SEGA)

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 52 58 36 15 71
Sega 12 52 58
Astrocytoma Subependymal Giant Cell 54
Subependymal Giant-Cell Astrocytoma 6

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5077
KEGG 36 H01692
MeSH 43 D001254
NCIt 49 C3696
SNOMED-CT 67 1586004
ICD10 via Orphanet 33 D43.2
UMLS via Orphanet 72 C0205768
Orphanet 58 ORPHA251618
UMLS 71 C0205768
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Summaries for Subependymal Giant Cell Astrocytoma

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KEGG : 36 Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative, they commonly arise in the region of the foramen of Monro, where they can cause obstructive hydrocephalus and sudden death. TSC is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies have demonstrated that mTOR inhibitors can induce regression of SEGA in patients with TSC, providing a viable alternative to surgical removal.

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 AMP-activated Protein Kinase (AMPK) Signaling. The drugs Fentanyl and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and kidney, and related phenotypes are behavior/neurological and cellular

Wikipedia : 74 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 372)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 31.5 TSC2 TSC1 RHEB MTOR
2 angiomyolipoma 31.1 VIM TSC2 TSC1 MTOR
3 hydrocephalus 30.8 VIM SYP SST S100B NPY NES
4 obstructive hydrocephalus 30.7 TSC2 TSC1 SYP KCTD1 GFAP ENO2
5 status epilepticus 30.6 SST NPY GFAP ENO2 CACNA1A
6 lymphangioleiomyomatosis 30.6 TSC2 TSC1 MTOR
7 pleomorphic xanthoastrocytoma 30.5 SYP S100B GFAP CHGA
8 central neurocytoma 30.3 SYP NES GFAP ENO2 CHGA
9 brain cancer 30.2 TSC1 SYP NES GFAP ENO2
10 kidney angiomyolipoma 30.1 TSC2 TSC1 RHEB MTOR KCTD1
11 hemangioma 29.9 TSC2 SYP NKX2-1 MTOR ENO2 CHGA
12 focal epilepsy 29.9 TSC2 TSC1 SST NPY MTOR GFAP
13 subependymoma 29.6 TSC2 SYP NES NCAM1 GFAP ENO2
14 tuberous sclerosis 29.4 VIM TSC2 TSC1 SYP SST S100B
15 glioblastoma multiforme 29.2 TSC2 TSC1 SYP NES MTOR MIR323A
16 neuroblastoma 29.0 TSC2 SYP SST NPY NES NCAM1
17 ganglioglioma 29.0 VIM TSC2 TSC1 SYP S100B NES
18 benign ependymoma 29.0 VIM TSC2 TSC1 SYP S100B NES
19 astrocytoma 11.3
20 stomatitis 10.6
21 malignant melanocytic neoplasm of the peripheral nerve sheath 10.6 SYP ENO2
22 extraventricular neurocytoma 10.6 SYP GFAP
23 desmoplastic infantile ganglioglioma 10.6 SYP GFAP
24 intracranial hypertension 10.6
25 anaplastic ganglioglioma 10.6 NES GFAP
26 central nervous system immature teratoma 10.6 NES GFAP
27 sinonasal undifferentiated carcinoma 10.6 SYP ENO2
28 intracranial primitive neuroectodermal tumor 10.5 SYP ENO2
29 rare surgical neurologic disease 10.5
30 bile duct mucinous adenocarcinoma 10.5 SYP ENO2
31 neurohypophysis granular cell tumor 10.5 VIM ENO2
32 nodular prostate 10.5 SYP ENO2
33 breath-holding spells 10.5 S100B NPY
34 cloacogenic carcinoma 10.5 SYP ENO2
35 mature teratoma of the ovary 10.5 SYP ENO2
36 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.5 SYP ENO2
37 head injury 10.5 S100B ENO2
38 third ventricle chordoid glioma 10.5 NKX2-1 GFAP
39 chiari malformation 10.5 SYP GFAP
40 neuroma 10.5 S100B GFAP ENO2
41 meningeal melanocytoma 10.5 S100B ENO2
42 hydromyelia 10.5 VIM S100B
43 cerebellar liponeurocytoma 10.5 SYP ENO2
44 non-functioning pituitary adenoma 10.5 SST S100B
45 optic nerve astrocytoma 10.5 SYP ENO2
46 intracranial cysts 10.5 S100B GFAP ENO2
47 congenital epulis 10.5 VIM ENO2
48 jejunal neoplasm 10.5 SYP ENO2
49 epulis 10.5 VIM ENO2
50 frontal lobe neoplasm 10.5 SYP ENO2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 CACNA1A ENO2 FABP7 GFAP MTOR NCAM1
2 cellular MP:0005384 10.06 CACNA1A ENO2 EPRS1 GFAP MTOR NCAM1
3 growth/size/body region MP:0005378 10.03 CACNA1A CHGA ENO2 EPRS1 GFAP MTOR
4 homeostasis/metabolism MP:0005376 10 CACNA1A CHGA EPRS1 FABP7 GFAP MTOR
5 nervous system MP:0003631 9.83 CACNA1A CHGA ENO2 FABP7 GFAP MTOR
6 normal MP:0002873 9.36 CACNA1A EPRS1 GFAP MTOR NKX2-1 NPY
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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 148)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
8
Desflurane Approved Phase 4 57041-67-5 42113
9
Succinylcholine Approved Phase 4 306-40-1 5314
10
Etomidate Approved Phase 4 33125-97-2 36339 667484
11
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
12
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
13
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
14 Anesthetics Phase 4
15 Central Nervous System Depressants Phase 4
16 Fibrinolytic Agents Phase 4
17 Vecuronium Bromide Phase 4 50700-72-6
18 Anticoagulants Phase 4
19 Immunologic Factors Phase 4
20 Anti-Infective Agents Phase 4
21 Antibiotics, Antitubercular Phase 4
22 Anti-Bacterial Agents Phase 4
23 Immunosuppressive Agents Phase 4
24 Antifungal Agents Phase 4
25
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
26
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
27
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
28
Ondansetron Approved Phase 3 99614-02-5 4595
29
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
30
Histamine Approved, Investigational Phase 3 51-45-6 774
31
Cyproheptadine Approved Phase 3 129-03-3 2913
32 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
33 BB 1101 Phase 3
34 Analgesics Phase 3
35 Autonomic Agents Phase 3
36 Emetics Phase 3
37 Antiemetics Phase 3
38 Liver Extracts Phase 3
39 Narcotics Phase 3
40 Anesthetics, General Phase 3
41 Analgesics, Opioid Phase 3
42 Adjuvants, Anesthesia Phase 3
43 Anesthetics, Intravenous Phase 3
44 Cola Phase 3
45 Dermatologic Agents Phase 3
46 Neurotransmitter Agents Phase 3
47 Gastrointestinal Agents Phase 3
48 Antipruritics Phase 3
49 Histamine H1 Antagonists Phase 3
50 Serotonin Agents Phase 3

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 SEGA - SEdation Versus General Anesthesia for Endovascular Therapy in Acute Ischemic Stroke - a Randomized Comparative Effectiveness Trial. Recruiting NCT03263117 Phase 4 Sedation;General Anesthesia (GA)
2 Long-term Follow-up Study to Monitor the Growth and Development of Pediatric Patients Previously Treated With Everolimus in Study CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
3 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
4 A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC) Completed NCT00789828 Phase 3 Everolimus;Placebo
5 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
6 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
7 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
8 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
9 Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T) Unknown status NCT02188550 Phase 2 everolimus and letrozole
10 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
11 A Phase II Trial of Continuous Low-Dose Temozolomide for Patients With Recurrent Malignant Glioma Completed NCT00498927 Phase 2 temozolomide
12 A Pilot Study of Tamoxifen, Carboplatin and Topotecan in the Treatment of Recurrent or Refractory Primary Brain or Spinal Cord Tumors or Metastatic Epithelial Cancers With Central Nervous System Metastases Completed NCT00541138 Phase 2 carboplatin;tamoxifen citrate;topotecan hydrochloride
13 A Feasibility Study of Armodafinil for Brain Radiation-Induced Fatigue Completed NCT01032200 Phase 2 Armodafinil
14 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
15 Randomized Trial Assessing the Significance of Bevacizumab in Recurrent Grade II and Grade III Gliomas - The TAVAREC Trial Completed NCT01164189 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 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
18 Phase I/II Evaluation of Everolimus (RAD001), Radiation and Temozolomide (TMZ) Followed by Adjuvant Temozolomide and Everolimus in Newly Diagnosed Glioblastoma Active, not recruiting NCT00553150 Phase 1, Phase 2 everolimus;temozolomide
19 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
20 Photodynamic Therapy For Childhood Brain Tumors, A Phase I Study Unknown status NCT00002647 Phase 1 verteporfin
21 Phase I Study Of SCH66336 (Lonafarnib), A Farnesyl Protein Transferase Inhibitor In Combination With Temozolomide In Gliomas Unknown status NCT00083096 Phase 1 lonafarnib;temozolomide
22 Phase I Studies of TARCEVAâ„¢ (ERLOTINIB HYDROCHLORIDE, OSI-774) as Single Agent in Children With Refractory and Relapsed Malignant Brain Tumors and in Combination With Irradiation in Newly Diagnosed Brain Stem Glioma Unknown status NCT00360854 Phase 1 erlotinib hydrochloride
23 Determination of the In-Tumor-Concentration of Imatinib Mesylate in Malignant Glioma After Oral Administration Completed NCT00401024 Phase 1 imatinib mesylate
24 Phase I and Pharmacokinetic Trial of PTC299 in Pediatric Patients With Refractory or Recurrent CNS Tumors Completed NCT01158300 Phase 1 VEGF inhibitor PTC299
25 A Phase I/II, Dual-Center, Open-Label Trial of the Safety and Efficacy of Tarcevaâ„¢ (Erlotinib Hydrochloride) Plus Sirolimus in Patients With Recurrent Malignant Glioma Not on P450-Inducing Anti-Epileptics Completed NCT00509431 Phase 1 Erlotinib + Sirolimus
26 Phase I and Pharmacokinetic Study of Enzastaurin (LY317615) in Children and Adolescents With Refractory Primary CNS Tumors Completed NCT00503724 Phase 1 enzastaurin hydrochloride
27 Phase I Evaluation of Sodium Stibogluconate in Combination With Interferon α-2b Followed by Cisplatin, Vinblastine and Dacarbazine for Patients With Melanoma or Malignancies Potentially Responsive to SSG and/or Interferons Completed NCT00498979 Phase 1 cisplatin;sodium stibogluconate;dacarbazine;vinblastine
28 A Phase I Study of Bortezomib and Temozolomide in Patients With Refractory Solid Tumors Completed NCT00544284 Phase 1 bortezomib;temozolomide
29 A Phase I Study of Temozolomide, Oral Irinotecan, and Vincristine for Children With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
30 Pilot Feasibility and Safety Study of Cellular Immunotherapy for Recurrent/Refractory Malignant Glioma Using Genetically-Modified Autologous CD8+ T Cell Clones Completed NCT00730613 Phase 1
31 A Phase 1 Study of Imetelstat, a Telomerase Inhibitor, in Children With Refractory or Recurrent Solid Tumors and Lymphomas Completed NCT01273090 Phase 1 imetelstat sodium
32 A Phase I Trial of the IGF-1R Antibody AMG 479 in Combination With Everolimus (RAD001) and Panitumumab in Patients With Advanced Cancer (The RAP Trial) Completed NCT01061788 Phase 1 AMG 479, Everolimus, Panitumumab
33 Phase I Combination of Pazopanib and Everolimus in PI3KCA Mutation Positive/PTEN Loss Patients With Advanced Solid Tumors Refractory to Standard Therapy Active, not recruiting NCT01430572 Phase 1 Pazopanib;Everolimus
34 A Phase I Trial of Sirolimus or Everolimus or Temsirolimus (mTOR Inhibitor) and Vorinostat (Histone Deacetylase Inhibitor) in Patients With Advanced Cancer Active, not recruiting NCT01087554 Phase 1 Sirolimus;Vorinostat;Everolimus;Temsirolimus
35 A Dose Escalation, Single Arm, Phase 1b-2 Combination Study of BEZ235 With Everolimus to Determine the Safety, Pharmacodynamics and Pharmacokinetics in Subjects With Advanced Solid Malignancies Terminated NCT01508104 Phase 1 BEZ235;Everolimus
36 A Phase I Pharmacokinetic Optimal Dosing Study of Intraventricular Topotecan for Children With Neoplastic Meningitis Terminated NCT00112619 Phase 1 topotecan hydrochloride
37 CD4 Count And Risk Of Infection In Patients With Brain Tumors Completed NCT00999622
38 Identification of Genes Involved in the Pathogenesis of Gliomas by Transcriptome Analysis Completed NCT00967200
39 Temozolomide Induced Changes in Semen/Sperm Analysis in Men With Newly Diagnosed, Progressive or Recurrent Primary Malignant Brain Tumors Completed NCT00499798
40 A Pilot Study of Donepezil Hydrochloride in Pediatric Brain Tumor Survivors After Cranial Irradiation Completed NCT00452868 Early Phase 1 Donepezil
41 San Francisco Bay Area Adult Glioma Prognosis Study Protocol Completed NCT01009307
42 A Pharmacokinetic Participation Questionnaire Study Completed NCT00890435
43 Metabolic Syndrome in Childhood Cancer Survivors Completed NCT00920738
44 Impact of the Intervention of Pharmacists and Geriatrician on Drug Prescription in Critically Ill Elderly Patients Admitted in Surgical ICU Recruiting NCT03706092
45 Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School Recruiting NCT02325505
46 Identifying Mechanisms of Resistance to mTOR Inhibitors in Cancer Terminated NCT02306135

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:

40
Brain, Lung, Kidney, Breast, Thyroid, Spinal Cord, Liver
Sources

Publications for Subependymal Giant Cell Astrocytoma

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Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50) (show all 446)
# Title Authors PMID Year
1
Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications. 54 61
20133820 2010
2
Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. 54 61
19856393 2010
3
Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. 54 61
18673443 2009
4
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 54 61
16237225 2005
5
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. 54 61
15851742 2005
6
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. 54 61
15624760 2004
7
Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology. 54 61
14999811 2004
8
Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. 54 61
15747752 2004
9
Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis. 54 61
15619643 2004
10
Subependymal giant cell astrocytoma with positive tuberin expression--case report. 54 61
14723270 2003
11
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. 54 61
9403714 1997
12
HMB-45 and tuberin in hamartomas associated with tuberous sclerosis. 54 61
9310961 1997
13
Immunohistochemical characterization of subependymal giant cell astrocytomas. 54 61
8928613 1996
14
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas. 61
31834371 2020
15
Infantile atypical subependymal giant cell astrocytoma. 61
31982898 2020
16
Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex. 61
31819914 2019
17
Neurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients. 61
31853898 2019
18
Subependymal Giant Cell Astrocytoma Size Measurement in Tuberous Sclerosis Complex: Noncontrast vs Contrast-Enhanced 3-Dimensional T1-Weighted Magnetic Resonance Imaging (MRI). 61
31424303 2019
19
Subependymal giant cell astrocytoma harboring a PRRC2B-ALK fusion: A case report. 61
31502411 2019
20
Neurological malignancies in neurofibromatosis type 1. 61
31436563 2019
21
Endoscopic Transforaminal Transchoroidal Approach to the Third Ventricle for Cystic and Solid Tumors. 61
31669244 2019
22
Prevalence of mild hyponatremia and its association with falls in older adults admitted to an emergency geriatric medicine unit (the MUPA unit). 61
31615437 2019
23
Subependymal giant cell astrocytoma: an unexpected finding during a forensic autopsy. 61
31250321 2019
24
Prognostic value at one year of frailty as evaluated by the SEGA instrument for octogenarians presenting an acute coronary syndrome: PROSECO study. 61
31339491 2019
25
Cryo-EM structures of four polymorphic TDP-43 amyloid cores. 61
31235914 2019
26
[The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex]. 61
31171758 2019
27
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. 61
30550347 2019
28
Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2. 61
30053159 2019
29
Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications. 61
31258848 2019
30
[Feasibility of assessing frailty in general medicine patients aged over 65]. 61
30853146 2019
31
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. 61
31053163 2019
32
An update on the central nervous system manifestations of neurofibromatosis type 1. 61
30963251 2019
33
[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)]. 61
30763959 2019
34
CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. 61
30756282 2019
35
Factors affecting epilepsy prognosis in patients with tuberous sclerosis. 61
30673834 2019
36
Glioblastoma in a patient with tuberous sclerosis. 61
30528355 2019
37
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. 61
30760308 2019
38
Dense array EEG estimated the epileptic focus in a patient with epilepsy secondary to tuberous sclerosis complex. 61
30077508 2019
39
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. 61
31708865 2019
40
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. 61
31428037 2019
41
Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. 61
30424962 2019
42
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. 61
31333563 2019
43
Novel small molecule protein kinase CK2 inhibitors exert potent antitumor effects on T98G and SEGA cells in vitro. 61
31588710 2019
44
Reliability of Imaging-Based Diagnosis of Lateral Ventricular Masses in Children. 61
30660880 2019
45
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. 61
29973652 2018
46
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. 61
29569806 2018
47
Subependymal Giant Cell Astrocytoma: A Surveillance, Epidemiology, and End Results Program-Based Analysis from 2004 to 2013. 61
29966782 2018
48
[Screening of frailty in family practice by the modified SEGA grid]. 61
30335257 2018
49
Surgery for subependymal giant cell astrocytomas in children with tuberous sclerosis complex. 61
29766265 2018
50
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. 61
29432982 2018
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Variations for Subependymal Giant Cell Astrocytoma

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ClinVar genetic disease variations for Subependymal Giant Cell Astrocytoma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1A NM_000068.4(CACNA1A):c.2594_2611del (p.Gln865_Asp870del)deletion Uncertain significance 374437 rs767951499 19:13409848-13409865 19:13299034-13299051

Cosmic variations for Subependymal Giant Cell Astrocytoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM110111226 central nervous system,brain,glioma,subependymal giant cell c.4859C>A p.S1620* 16:2088234-2088234 4
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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:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.29 TSC2 TSC1 RHEB MTOR
2
mTOR signalling 65
Show member pathways
 12.27 TSC2 TSC1 RHEB MTOR
3
Phospholipase D signaling pathway 36
Show member pathways
 12.25 TSC2 TSC1 RHEB MTOR
4
Development IGF-1 receptor signaling 22
Show member pathways
 12.23 TSC2 TSC1 RHEB MTOR
5
Neuroscience 4
12.09 SYP S100B NPY NKX2-1 NCAM1 GFAP
6
Cellular senescence (KEGG) 36
12.03 TSC2 TSC1 RHEB MTOR
7
Integrated Breast Cancer Pathway 1
12 TSC2 TSC1 RHEB MTOR
8
Longevity regulating pathway 36
Show member pathways
 11.97 TSC2 TSC1 RHEB MTOR
9
Autophagy Pathway 64
Show member pathways
 11.95 TSC2 TSC1 RHEB MTOR
10
Autophagy - animal 36
11.87 TSC2 TSC1 RHEB MTOR
11
PI3K / Akt Signaling 4
11.72 TSC2 TSC1 RHEB
12
TP53 Regulates Metabolic Genes 65
11.55 TSC2 TSC1 RHEB MTOR
13
Wnt Signaling Pathway Netpath 1
11.44 TSC2 TSC1 MTOR
14
mTOR signaling pathway (Pathway Interaction Database) 1
11.34 TSC2 TSC1 RHEB MTOR
15
LKB1 signaling events 1
11.26 TSC2 TSC1 MTOR
16
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.06 TSC2 RHEB MTOR
17
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.06 VIM SYP S100B NES NCAM1 GFAP
18
Follicle Stimulating Hormone (FSH) signaling pathway 1
10.98 TSC2 RHEB MTOR
19
BDNF-TrkB Signaling 1
10.98 TSC2 TSC1 RHEB MTOR
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 intermediate filament cytoskeleton GO:0045111 9.33 VIM NES GFAP
2 neuronal cell body GO:0043025 9.1 SST S100B MTOR FABP7 ENO2 CACNA1A
3 TSC1-TSC2 complex GO:0033596 8.96 TSC2 TSC1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of macroautophagy GO:0016242 9.37 TSC1 MTOR
2 negative regulation of neuron projection development GO:0010977 9.33 VIM TSC1 GFAP
3 anoikis GO:0043276 9.32 TSC2 MTOR
4 negative regulation of cell size GO:0045792 9.26 TSC1 MTOR
5 Bergmann glial cell differentiation GO:0060020 8.96 VIM GFAP
6 intermediate filament-based process GO:0045103 8.62 VIM GFAP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 VIM SYP S100B MTOR KCTD1 GFAP
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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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