SEGA
MCID: SBP001
MIFTS: 50

Subependymal Giant Cell Astrocytoma (SEGA)

Categories: Cancer diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Subependymal Giant Cell Astrocytoma

MalaCards integrated aliases for Subependymal Giant Cell Astrocytoma:

Name: Subependymal Giant Cell Astrocytoma 11 19 58 14 71 75
Sega 11 19 58
Astrocytoma Subependymal Giant Cell 53
Subependymal Giant-Cell Astrocytoma 5

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:5077
MeSH 43 D001254
NCIt 49 C3696
SNOMED-CT 68 449799008
ICD10 via Orphanet 32 D43.2
UMLS via Orphanet 72 C0205768
Orphanet 58 ORPHA251618
UMLS 71 C0205768

Summaries for Subependymal Giant Cell Astrocytoma

GARD: 19 A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.

MalaCards based summary: Subependymal Giant Cell Astrocytoma, also known as sega, is related to tuberous sclerosis 1 and hydrocephalus, and has symptoms including headache and seizures. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. The drugs Etomidate and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and retina, and related phenotypes are Decreased viability and Decreased viability

Orphanet: 58 A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.

Wikipedia: 75 Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor... more...

Related Diseases for Subependymal Giant Cell Astrocytoma

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

(show top 50) (show all 313)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 32.3 TSC2 TSC1
2 hydrocephalus 31.5 SYP S100B NPY MTOR GFAP ENO2
3 angiomyolipoma 31.5 TSC2 TSC1 MTOR
4 intracranial hypertension 31.2 S100B GFAP ENO2
5 gemistocytic astrocytoma 31.1 S100B GFAP
6 cellular ependymoma 31.0 SYP S100B GFAP
7 brain cancer 31.0 TSC1 SYP NF1 GFAP ENO2
8 diffuse astrocytoma 31.0 NF1 KIAA1549 GFAP
9 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.0 TSC2 TSC1
10 obstructive hydrocephalus 30.8 TSC2 TSC1 SYP NF1 KIAA1549 GFAP
11 giant cell glioblastoma 30.8 SYP NF1 MTOR GFAP
12 west syndrome 30.7 TSC2 TSC1 NPY MTOR
13 focal cortical dysplasia, type ii 30.6 TSC2 TSC1 MTOR
14 lymphangioleiomyomatosis 30.6 TSC2 TSC1 RPS6KB1 MTOR
15 focal epilepsy 30.6 TSC1 NPY GFAP
16 central neurocytoma 30.5 SYP KIAA1549 GFAP ENO2
17 status epilepticus 30.5 SST S100B NPY MTOR GFAP ENO2
18 cystic kidney disease 30.5 TSC2 TSC1 SST MTOR
19 pleomorphic xanthoastrocytoma 30.4 SYP NF1 KIAA1549
20 hemangioma 30.4 TSC2 TSC1 SYP MTOR ENO2
21 epilepsy 30.3 TSC2 TSC1 SST S100B NPY MTOR
22 ganglioglioma 30.0 TSC2 TSC1 SYP S100B NF1 GFAP
23 neuroblastoma 29.9 SYP SST RPS6KB1 NPY NF1 MTOR
24 tuberous sclerosis 29.7 TSC2 TSC1 TBC1D7 SYP SST S100B
25 neurofibromatosis, type i 29.7 TSC2 TSC1 SST S100B NF1 MTOR
26 low grade glioma 29.4 TSC2 TSC1 SYP NF1 MTOR KIAA1549
27 kidney angiomyolipoma 29.2 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
28 glioma susceptibility 1 11.3
29 tuberous sclerosis 2 11.2
30 developmental and epileptic encephalopathy 72 11.0
31 stomatitis 10.6
32 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
33 hydrocephalus, congenital, 1 10.4
34 malignant melanocytic neoplasm of the peripheral nerve sheath 10.4 SYP ENO2
35 parietal lobe neoplasm 10.4 GFAP ENO2
36 neuronal intestinal dysplasia, type b 10.4 SYP ENO2
37 thymus small cell carcinoma 10.4 SYP ENO2
38 gastric small cell carcinoma 10.4 SYP ENO2
39 breast neuroendocrine neoplasm 10.4 SYP ENO2
40 cloacogenic carcinoma 10.4 SYP ENO2
41 pineal region teratoma 10.4 SYP ENO2
42 middle ear adenoma 10.4 SYP ENO2
43 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.4 SYP ENO2
44 cauda equina neoplasm 10.4 SYP ENO2
45 bile duct mucinous adenocarcinoma 10.4 SYP ENO2
46 auditory system benign neoplasm 10.4 SYP ENO2
47 carotid body cancer 10.4 SYP ENO2
48 pineal region choriocarcinoma 10.4 SYP ENO2
49 neurohypophysis granular cell tumor 10.4 SYP ENO2
50 intracranial primitive neuroectodermal tumor 10.4 SYP ENO2

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



Diseases related to Subependymal Giant Cell Astrocytoma

Symptoms & Phenotypes for Subependymal Giant Cell Astrocytoma

UMLS symptoms related to Subependymal Giant Cell Astrocytoma:


headache; seizures

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

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.93 MTOR
2 Decreased viability GR00055-A-2 9.93 MTOR
3 Decreased viability GR00221-A-1 9.93 MLST8 MTOR NF1 RHEB RPS6KB1
4 Decreased viability GR00221-A-2 9.93 NF1
5 Decreased viability GR00221-A-4 9.93 MLST8 MTOR NF1
6 Decreased viability GR00249-S 9.93 NF1
7 Decreased viability GR00301-A 9.93 RPS6KB1
8 Decreased viability GR00342-S-1 9.93 MTOR
9 Decreased viability GR00342-S-2 9.93 MTOR
10 Decreased viability GR00381-A-1 9.93 RPS6KB1
11 Decreased viability GR00386-A-1 9.93 NF1 RHEB
12 Decreased viability GR00402-S-2 9.93 RPS6KB1
13 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.55 EIF4EBP1 ENO2 RPS6KB1 TSC1 TSC2
14 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
15 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
16 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 CRYAB EIF4EBP1 FKBP1A GFAP KIAA1549 MTOR
2 nervous system MP:0003631 10.27 ENO2 FKBP1A GFAP MLST8 MTOR NF1
3 growth/size/body region MP:0005378 10.22 EIF4EBP1 ENO2 FKBP1A GFAP MLST8 MTOR
4 muscle MP:0005369 10.21 CRYAB EIF4EBP1 FKBP1A GFAP MTOR NF1
5 normal MP:0002873 10.18 FKBP1A GFAP MTOR NF1 NPY RHEB
6 adipose tissue MP:0005375 10.01 EIF4EBP1 KIAA1549 MTOR NPY RICTOR RPS6KB1
7 cellular MP:0005384 9.97 CRYAB EIF4EBP1 ENO2 FKBP1A GFAP MTOR
8 embryo MP:0005380 9.96 FKBP1A MLST8 MTOR NF1 RHEB RICTOR
9 cardiovascular system MP:0005385 9.73 EIF4EBP1 FKBP1A GFAP MLST8 MTOR NF1
10 behavior/neurological MP:0005386 9.5 CRYAB ENO2 FKBP1A GFAP KIAA1549 MTOR

Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etomidate Approved Phase 4 33125-97-2 667484
2
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
3
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Succinylcholine Approved Phase 4 306-40-1, 71-27-2 5314
6
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Desflurane Approved Phase 4 57041-67-5 42113
11
Vecuronium Approved, Investigational Phase 4 50700-72-6, 86029-43-8 39765 39764
12 Fibrinolytic Agents Phase 4
13 Anticoagulants Phase 4
14 Anesthetics Phase 4
15
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
16
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
17 Immunosuppressive Agents Phase 3
18 Immunologic Factors Phase 3
19
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
22
Erlotinib Approved, Investigational Phase 1, Phase 2 183319-69-9, 183321-74-6 176870
23 Angiogenesis Inhibitors Phase 2
24 Protein Kinase Inhibitors Phase 2
25 Antifungal Agents Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Antibiotics, Antitubercular Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
30
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
31
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
32
Lenograstim Approved, Investigational Phase 1 135968-09-1
33
Lenalidomide Approved Phase 1 191732-72-6 216326
34
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3 3680
35
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 3003 5743
36
Veliparib Investigational Phase 1 912444-00-9 11960529
37
Cediranib Investigational Phase 1 288383-20-0 9933475
38
Maleic acid Experimental, Investigational Phase 1 110-16-7, 110-17-8 444266 444972
39 Histone Deacetylase Inhibitors Phase 1
40 Antineoplastic Agents, Alkylating Phase 1
41 Alkylating Agents Phase 1
42 O(6)-benzylguanine Phase 1
43 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
44 Gastrointestinal Agents Phase 1
45 Antineoplastic Agents, Hormonal Phase 1
46 glucocorticoids Phase 1
47 R04929097 Phase 1
48 Antiemetics Phase 1
49 BB 1101 Phase 1
50 Hormones Phase 1

Interventional clinical trials:

(show all 20)
# 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 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
3 A Phase II Study of Sunitinib (NSC# 736511) in Recurrent, Refractory or Progressive High Grade Glioma and Ependymoma Tumors in Pediatric and Young Adult Patients Completed NCT01462695 Phase 2 Sunitinib Malate
4 Phase II Trial of RAD001 in Patients With Recurrent Low Grade Glioma Completed NCT00823459 Phase 2 Everolimus
5 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
6 Phase I/II Study of OSI-774 (Erlotinib) and CCI-779 (Temsirolimus) in Patients With Recurrent Malignant Glioma Completed NCT00112736 Phase 1, Phase 2 erlotinib;temsirolimus
7 Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors Completed NCT00063973 Phase 1 cilengitide
8 A Phase I Study of Vorinostat and Bortezomib in Children With Refractory or Recurrent Solid Tumors, Including CNS Tumors and Lymphomas Completed NCT00994500 Phase 1 vorinostat;bortezomib
9 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
10 Phase I Study of Alisertib With Concurrent Fractionated Stereotactic Radiation Treatment for Recurrent High Grade Gliomas Completed NCT02186509 Phase 1 Alisertib
11 Phase I Trial of Temozolomide and O6-Benzylguanine in Pediatric Patients With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
12 A Phase I Study of ABT-888, an Oral Inhibitor of Poly (ADP-Ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
13 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
14 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
15 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
16 A PHASE 1/2 STUDY OF RO4929097, AN ORAL SMALL MOLECULE INHIBITOR OF GAMMA-SECRETASE, IN CHILDREN WITH RELAPSED/REFRACTORY SOLID OR CNS TUMORS, LYMPHOMA, OR T-CELL LEUKEMIA Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
17 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Active, not recruiting NCT02654340
18 A Pilot Study of Utility of 18F-FDOPA-PET for Neurosurgical Planning and Radiotherapy Target Delineation in Glioma Patients: Biopsy Validation of 18F-FDOPA-PET Uptake and Biodistribution in Brain Tumors Active, not recruiting NCT01165632 Early Phase 1 fluorine F 18 fluorodopa
19 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
20 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Subependymal Giant Cell Astrocytoma

Genetic Tests for Subependymal Giant Cell Astrocytoma

Anatomical Context for Subependymal Giant Cell Astrocytoma

Organs/tissues related to Subependymal Giant Cell Astrocytoma:

MalaCards : Brain, Spinal Cord, Retina, Fetal Brain, Thyroid, Breast, Skin

Publications for Subependymal Giant Cell Astrocytoma

Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50) (show all 519)
# 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. 53 62
20133820 2010
2
Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. 53 62
19856393 2010
3
Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. 53 62
18673443 2009
4
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 53 62
16237225 2005
5
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. 53 62
15851742 2005
6
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. 53 62
15624760 2004
7
Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology. 53 62
14999811 2004
8
Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. 53 62
15747752 2004
9
Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis. 53 62
15619643 2004
10
Subependymal giant cell astrocytoma with positive tuberin expression--case report. 53 62
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. 53 62
9403714 1997
12
HMB-45 and tuberin in hamartomas associated with tuberous sclerosis. 53 62
9310961 1997
13
Immunohistochemical characterization of subependymal giant cell astrocytomas. 53 62
8928613 1996
14
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. 62
34709498 2022
15
Erratum to "Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures". 62
36097800 2022
16
Resection of brain lesions with a neuroendoscopic ultrasonic aspirator - a systematic literature review. 62
35896917 2022
17
A Segment-Based Drift Adaptation Method for Data Streams. 62
33835922 2022
18
Therapeutic effect of everolimus on small renal angiomyolipoma in cases of tuberous sclerosis complex-related epilepsy and subependymal giant cell astrocytoma. 62
36031512 2022
19
Late Manifestation of Subependymal Giant Cell Astrocytoma With Hydrocephalus in an Adult Patient With Tuberous Sclerosis Complex. 62
36176856 2022
20
Subependymal giant-cell astrocytoma: A surgical review in the modern era of mTOR inhibitors. 62
35907444 2022
21
Tunable Schottky barrier in Janus-XGa2Y/Graphene (X/Y = S, Se, Te;X≠Y) van der Waals heterostructures. 62
35817003 2022
22
Electronic structure and interface contact of two-dimensional van der Waals boron phosphide/Ga2SSe heterostructures. 62
35865616 2022
23
Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification. 62
35562132 2022
24
Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review. 62
34718782 2022
25
Managing Headache Disorders Associated with Tuberous Sclerosis and Neurofibromatosis. 62
35179724 2022
26
The clinical and paraclinical manifestations of tuberous sclerosis complex in children. 62
33738777 2022
27
Tuber Brain Proportion Determines Epilepsy Onset in Children With Tuberous Sclerosis Complex. 62
35217276 2022
28
TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA. 62
34871801 2022
29
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. 62
35101906 2022
30
Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review. 62
36074682 2022
31
Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities. 62
36238691 2022
32
Initial experience with magnetic resonance-guided focused ultrasound stereotactic surgery for central brain lesions in young adults. 62
35171812 2022
33
Mechanistic Target of Rapamycin (mTOR) Inhibitors. 62
35091825 2022
34
Story of the solitary subependymal giant cell astrocytoma: A case report and literature review. 62
34542400 2022
35
[Subependymal Giant Cell Astrocytoma with Tuberous Sclerosis Complex(TSC-SEGA)]. 62
35169091 2022
36
Cytopathological and histopathological features of cerebral granular cell astrocytoma: A case report. 62
34608699 2022
37
TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma. 62
34741623 2022
38
An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies. 62
34491422 2021
39
Chromosome segregation in Archaea: SegA- and SegB-DNA complex structures provide insights into segrosome assembly. 62
34850144 2021
40
Clinical trial challenges, design considerations, and outcome measures in rare CNS tumors. 62
34725696 2021
41
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. 62
34403804 2021
42
Concordance in mSEGA Tool to Frailty Diagnosis between Medical Doctors and Nurses. 62
34822360 2021
43
Exception from informed consent in the era of social media: The SEGA stroke trial experience. 62
35071841 2021
44
A standardized genome architecture for bacterial synthetic biology (SEGA). 62
34620865 2021
45
TSC1 Mosaicism Leading to Subependymal Giant Cell Astrocytoma but Not Tuberous Sclerosis Complex. 62
34391197 2021
46
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives. 62
34275102 2021
47
Validation of the Zulfiqar Frailty Scale (ZFS): A New Tool for General Practitioners. 62
34564094 2021
48
Innumerable Meningiomas Arising in a Patient With Tuberous Sclerosis Complex Decades After Radiation Therapy. 62
33826429 2021
49
Diabetes in Individuals With Tuberous Sclerosis Complex Treated With mTOR Inhibitors. 62
33962348 2021
50
A Rare Case of Isolated Intraventricular Primary Central Nervous System Lymphoma in an 85-Year-Old Man. 62
34660383 2021

Variations for Subependymal Giant Cell Astrocytoma

ClinVar genetic disease variations for Subependymal Giant Cell Astrocytoma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1A NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) DEL Uncertain Significance
374437 rs767951499 GRCh37: 19:13409848-13409865
GRCh38: 19:13299034-13299051

Expression for Subependymal Giant Cell Astrocytoma

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

Pathways for Subependymal Giant Cell Astrocytoma

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

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1 13.83 EIF4EBP1 FKBP1A GFAP MLST8 MTOR NF1
2
Show member pathways
13.38 TSC2 RICTOR NF1 MTOR MLST8 KIAA1549
3
Show member pathways
13.16 EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
4
Show member pathways
13.08 TSC2 RPTOR RICTOR RHEB MTOR MLST8
5
Show member pathways
13.04 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
6
Show member pathways
13.02 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
7
Show member pathways
12.84 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
8 12.83 S100B RICTOR MTOR MLST8 GFAP
9
Show member pathways
12.82 GFAP MLST8 MTOR RHEB RPTOR TSC1
10 12.82 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
11
Show member pathways
12.72 TSC2 RPS6KB1 RHEB NF1 MTOR
12 12.67 SYP S100B NPY NF1 GFAP ENO2
13
Show member pathways
12.63 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
14
Show member pathways
12.4 TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
15
Show member pathways
12.38 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
16
Show member pathways
12.32 EIF4EBP1 MTOR RPS6KB1 RPTOR TSC1 TSC2
17
Show member pathways
12.29 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
18
Show member pathways
12.29 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
19
Show member pathways
12.28 TSC2 RPS6KB1 RHEB MTOR
20
Show member pathways
12.26 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
21
Show member pathways
12.23 CRYAB MLST8 MTOR RPTOR
22 12.23 TSC2 TSC1 RHEB NF1 MTOR
23
Show member pathways
12.2 TSC2 TSC1 RPTOR RHEB MTOR MLST8
24
Show member pathways
12.16 TSC2 RPS6KB1 MTOR EIF4EBP1
25 12.16 EIF4EBP1 MLST8 MTOR RHEB RICTOR RPS6KB1
26
Show member pathways
12.13 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
27
Show member pathways
12.13 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
28 12.12 SYP RPTOR RPS6KB1 MTOR
29
Show member pathways
12.1 TSC2 TSC1 RPTOR RPS6KB1 RHEB NF1
30
Show member pathways
12.08 EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
31 12 TSC2 TSC1 RPTOR RHEB MTOR MLST8
32 11.96 TSC2 RPTOR MTOR MLST8
33 11.95 ENO2 MLST8 MTOR RHEB RPTOR TSC1
34 11.94 TSC2 TSC1 TBC1D7 RHEB
35 11.89 MLST8 MTOR NPY RHEB RPS6KB1 RPTOR
36
Show member pathways
11.87 TSC2 RICTOR MTOR MLST8
37 11.85 RPS6KB1 MTOR EIF4EBP1
38 11.82 EIF4EBP1 MLST8 MTOR RPTOR
39 11.81 TSC2 TSC1 RPTOR MTOR MLST8
40 11.79 SYP S100B GFAP
41
Show member pathways
11.76 RICTOR MTOR MLST8
42 11.75 SST NF1 MTOR
43 11.67 EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
44 11.64 RICTOR MTOR MLST8
45 11.56 MLST8 MTOR RPTOR TSC1 TSC2
46
Show member pathways
11.55 RPTOR MTOR MLST8 CRYAB
47 11.55 RPTOR RPS6KB1 RICTOR MTOR MLST8
48 11.39 TSC2 RPTOR RICTOR RHEB MTOR EIF4EBP1
49 11.36 TSC1 RPTOR MTOR
50 11.31 RICTOR MTOR MLST8

GO Terms for Subependymal Giant Cell Astrocytoma

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

# Name GO ID Score Top Affiliating Genes
1 TORC2 complex GO:0031932 9.63 RICTOR MTOR MLST8
2 TORC1 complex GO:0031931 9.43 RPTOR MTOR MLST8
3 TSC1-TSC2 complex GO:0033596 9.1 TSC2 TSC1 TBC1D7

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell growth GO:0030307 10.1 RPTOR RICTOR MTOR MLST8
2 regulation of GTPase activity GO:0043087 10.08 RICTOR NF1 MTOR MLST8
3 negative regulation of autophagy GO:0010507 10.04 RPTOR MTOR MLST8
4 positive regulation of actin filament polymerization GO:0030838 10.03 RICTOR MTOR MLST8
5 oligodendrocyte differentiation GO:0048709 10.02 RHEB NF1 MTOR
6 negative regulation of TOR signaling GO:0032007 10.01 TSC2 TSC1 TBC1D7
7 response to heat GO:0009408 10.01 SST RPS6KB1 MTOR CRYAB
8 positive regulation of glycolytic process GO:0045821 9.93 RPTOR MTOR MLST8
9 response to amino acid GO:0043200 9.91 MTOR RPS6KB1 SST
10 positive regulation of lipid biosynthetic process GO:0046889 9.91 MLST8 MTOR RPTOR
11 positive regulation of TOR signaling GO:0032008 9.86 MLST8 RHEB RICTOR RPTOR
12 cellular response to osmotic stress GO:0071470 9.85 RPTOR MTOR MLST8
13 Schwann cell proliferation GO:0014010 9.83 NF1 GFAP
14 TORC1 signaling GO:0038202 9.8 RPTOR MTOR MLST8
15 cellular response to nutrient levels GO:0031669 9.76 RPTOR RICTOR MTOR MLST8
16 positive regulation of pentose-phosphate shunt GO:1905857 9.43 RPTOR MTOR MLST8
17 TOR signaling GO:0031929 9.36 RPTOR RPS6KB1 RICTOR MTOR MLST8 EIF4EBP1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.56 RPTOR MTOR
2 TFIIIC-class transcription factor complex binding GO:0001156 9.46 RPTOR MTOR
3 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.26 RPTOR MTOR
4 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 8.92 RPTOR MTOR

Sources for Subependymal Giant Cell Astrocytoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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