Subependymal Giant Cell Astrocytoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SEGA MCID: SBP001 MIFTS: 50	Subependymal Giant Cell Astrocytoma (SEGA) Categories: Cancer diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Neoplasms of uncertain or unknown behaviour

Neoplasm of uncertain or unknown behaviour of brain and central nervous system

Neoplasm of uncertain or unknown behaviour: Brain, unspecified

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

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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 Rocuronium and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and retina, and related phenotypes are Decreased viability and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation

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...

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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 309)

#	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	31.1	SYP S100B GFAP
7	brain cancer	31.0	TSC1 SYP NF1 GFAP ENO2
8	diffuse astrocytoma	31.0	NF1 KIAA1549 GFAP
9	obstructive hydrocephalus	30.8	TSC2 TSC1 SYP NF1 KIAA1549 GFAP
10	giant cell glioblastoma	30.8	SYP NF1 MTOR GFAP
11	west syndrome	30.7	TSC2 TSC1 NPY MTOR
12	focal cortical dysplasia, type ii	30.6	TSC2 TSC1 MTOR
13	lymphangioleiomyomatosis	30.6	TSC2 TSC1 RPS6KB1 MTOR
14	focal epilepsy	30.6	TSC1 NPY GFAP
15	central neurocytoma	30.5	SYP KIAA1549 GFAP ENO2
16	status epilepticus	30.5	SST S100B NPY MTOR GFAP ENO2
17	cystic kidney disease	30.5	TSC2 TSC1 SST MTOR
18	pleomorphic xanthoastrocytoma	30.4	SYP NF1 KIAA1549
19	hemangioma	30.4	TSC2 TSC1 SYP MTOR ENO2
20	epilepsy	30.3	TSC2 TSC1 SST S100B NPY MTOR
21	ganglioglioma	30.0	TSC2 TSC1 SYP S100B NF1 GFAP
22	neuroblastoma	29.9	SYP SST RPS6KB1 NPY NF1 MTOR
23	tuberous sclerosis	29.7	TSC2 TSC1 TBC1D7 SYP SST S100B
24	neurofibromatosis, type i	29.7	TSC2 TSC1 SST S100B NF1 MTOR
25	low grade glioma	29.4	TSC2 TSC1 SYP NF1 MTOR KIAA1549
26	kidney angiomyolipoma	29.2	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
27	glioma susceptibility 1	11.3
28	tuberous sclerosis 2	11.2
29	developmental and epileptic encephalopathy 72	11.0
30	stomatitis	10.6
31	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.5
32	hydrocephalus, congenital, 1	10.4
33	malignant melanocytic neoplasm of the peripheral nerve sheath	10.4	SYP ENO2
34	parietal lobe neoplasm	10.4	GFAP ENO2
35	neuronal intestinal dysplasia, type b	10.4	SYP ENO2
36	thymus small cell carcinoma	10.4	SYP ENO2
37	gastric small cell carcinoma	10.4	SYP ENO2
38	breast neuroendocrine neoplasm	10.4	SYP ENO2
39	cloacogenic carcinoma	10.4	SYP ENO2
40	pineal region teratoma	10.4	SYP ENO2
41	middle ear adenoma	10.4	SYP ENO2
42	extraosseous ewings sarcoma-primitive neuroepithelial tumor	10.4	SYP ENO2
43	cauda equina neoplasm	10.4	SYP ENO2
44	bile duct mucinous adenocarcinoma	10.4	SYP ENO2
45	auditory system benign neoplasm	10.4	SYP ENO2
46	carotid body cancer	10.4	SYP ENO2
47	pineal region choriocarcinoma	10.4	SYP ENO2
48	neurohypophysis granular cell tumor	10.4	SYP ENO2
49	intracranial primitive neuroectodermal tumor	10.4	SYP ENO2
50	auditory system cancer	10.4	SYP ENO2

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

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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

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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

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Etomidate

Approved

Phase 4

33125-97-2

667484

Vecuronium

Approved, Investigational

Phase 4

50700-72-6, 86029-43-8

39765 39764

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

Desflurane

Approved

Phase 4

57041-67-5

42113

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Succinylcholine

Approved

Phase 4

306-40-1, 71-27-2

5314

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Fibrinolytic Agents

Phase 4

Anticoagulants

Phase 4

Anesthetics

Phase 4

Everolimus

Approved

Phase 3

159351-69-6

70789204 6442177

Sirolimus

Approved, Investigational

Phase 3

53123-88-9

5284616 6436030

Immunosuppressive Agents

Phase 3

Immunologic Factors

Phase 3

Erlotinib

Approved, Investigational

Phase 1, Phase 2

183319-69-9, 183321-74-6

176870

Miconazole

Approved, Investigational, Vet_approved

Phase 1, Phase 2

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 1, Phase 2

23593-75-1

2812

Sunitinib

Approved, Investigational

Phase 2

557795-19-4

5329102

Anti-Bacterial Agents

Phase 1, Phase 2

Anti-Infective Agents

Phase 1, Phase 2

Antifungal Agents

Phase 1, Phase 2

Antibiotics, Antitubercular

Phase 1, Phase 2

Protein Kinase Inhibitors

Phase 1, Phase 2

Angiogenesis Inhibitors

Phase 2

Vorinostat

Approved, Investigational

Phase 1

149647-78-9

5311

Bortezomib

Approved, Investigational

Phase 1

179324-69-7

387447 93860

Lenograstim

Approved, Investigational

Phase 1

135968-09-1

Temozolomide

Approved, Investigational

Phase 1

85622-93-1

5394

Lenalidomide

Approved

Phase 1

191732-72-6

216326

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 1

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 1

50-02-2

3003 5743

Cediranib

Investigational

Phase 1

288383-20-0

9933475

Maleic acid

Experimental, Investigational

Phase 1

110-16-7, 110-17-8

444266 444972

Veliparib

Investigational

Phase 1

912444-00-9

11960529

Histone Deacetylase Inhibitors

Phase 1

Alkylating Agents

Phase 1

Antineoplastic Agents, Alkylating

Phase 1

O(6)-benzylguanine

Phase 1

Poly(ADP-ribose) Polymerase Inhibitors

Phase 1

Antineoplastic Agents, Hormonal

Phase 1

Gastrointestinal Agents

Phase 1

R04929097

Phase 1

Hormones

Phase 1

Hormone Antagonists

Phase 1

Antiemetics

Phase 1

glucocorticoids

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	Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex	Completed	NCT00411619	Phase 1, Phase 2	Everolimus
4	Phase II Trial of RAD001 in Patients With Recurrent Low Grade Glioma	Completed	NCT00823459	Phase 2	Everolimus
5	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
6	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
7	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
8	Phase I Trial of Temozolomide and O6-Benzylguanine in Pediatric Patients With Recurrent Brain Tumors	Completed	NCT00052780	Phase 1	O6-benzylguanine;temozolomide
9	A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors	Completed	NCT00100880	Phase 1	lenalidomide
10	Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors	Completed	NCT00063973	Phase 1	cilengitide
11	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
12	A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors	Completed	NCT00326664	Phase 1	Cediranib Maleate
13	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
14	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
15	Phase I Study of Alisertib With Concurrent Fractionated Stereotactic Radiation Treatment for Recurrent High Grade Gliomas	Completed	NCT02186509	Phase 1	Alisertib
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

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Genetic Tests for Subependymal Giant Cell Astrocytoma

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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

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Publications for Subependymal Giant Cell Astrocytoma

Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50) (show all 523)

#	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	Tyburczy ME...Kaminska B	20133820	2010
2	Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. ⁵³ ⁶²	Lam C...Bartels U	19856393	2010
3	Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. ⁵³ ⁶²	Takei H...Powell SZ	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	Ichikawa T...Niida Y	16237225	2005
5	Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. ⁵³ ⁶²	Ess KC...Gutmann DH	15851742	2005
6	Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. ⁵³ ⁶²	Chan JA...Kwiatkowski DJ	15624760	2004
7	Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology. ⁵³ ⁶²	Ess KC...Gutmann DH	14999811	2004
8	Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. ⁵³ ⁶²	Shields JA...Marr BP	15747752	2004
9	Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis. ⁵³ ⁶²	Sharma MC...Sarkar C	15619643	2004
10	Subependymal giant cell astrocytoma with positive tuberin expression--case report. ⁵³ ⁶²	Tabuchi S...Watanabe T	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	Henske EP...Yeung RS	9403714	1997
12	HMB-45 and tuberin in hamartomas associated with tuberous sclerosis. ⁵³ ⁶²	Kimura N...Nagura H	9310961	1997
13	Immunohistochemical characterization of subependymal giant cell astrocytomas. ⁵³ ⁶²	Lopes MB...VandenBerg SR	8928613	1996
14	Subependymal giant-cell astrocytoma: A surgical review in the modern era of mTOR inhibitors. ⁶²	Danassegarane G...Riffaud L	35907444	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	Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. ⁶²	Bongaarts A...Aronica E	34709498	2022
17	First principles prediction of electronic, mechanical, transport and optical properties of the silicane/Ga2SSe heterostructure. ⁶²	Pham KD	36380915	2022
18	Physical Activity in the Elderly and Frailty Syndrome: A Retrospective Study in Primary Care. ⁶²	Zulfiqar AA...Andres E	36286584	2022
19	Resection of brain lesions with a neuroendoscopic ultrasonic aspirator - a systematic literature review. ⁶²	Ebel F...Soleman J	35896917	2022
20	Effect of enhanced home support: a retrospective study of the « [email protected] » project ⁶²	Eude Y...Sanchez S	36322806	2022
21	A Segment-Based Drift Adaptation Method for Data Streams. ⁶²	Song Y...Zhang G	33835922	2022
22	Association of Frailty Status with Risk of Fall among Hospitalized Elderly Patients: A Cross-Sectional Study in an Acute Geriatric Unit. ⁶²	Zulfiqar AA...Andres E	36286581	2022
23	Therapeutic effect of everolimus on small renal angiomyolipoma in cases of tuberous sclerosis complex-related epilepsy and subependymal giant cell astrocytoma. ⁶²	Hatano T...Yuri Y	36031512	2022
24	Late Manifestation of Subependymal Giant Cell Astrocytoma With Hydrocephalus in an Adult Patient With Tuberous Sclerosis Complex. ⁶²	Zaher Addeen S...Safadi MF	36176856	2022
25	Tunable Schottky barrier in Janus-XGa2Y/Graphene (X/Y = S, Se, Te;X≠Y) van der Waals heterostructures. ⁶²	Guo H...Wang G	35817003	2022
26	Electronic structure and interface contact of two-dimensional van der Waals boron phosphide/Ga2SSe heterostructures. ⁶²	Do HT...Tong HD	35865616	2022
27	Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification. ⁶²	Koy Y...Tihan T	35562132	2022
28	Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review. ⁶²	Andrews LJ...Kurian KM	34718782	2022
29	Tuber Brain Proportion Determines Epilepsy Onset in Children With Tuberous Sclerosis Complex. ⁶²	Zhang F...Jiang L	35217276	2022
30	Managing Headache Disorders Associated with Tuberous Sclerosis and Neurofibromatosis. ⁶²	Patniyot I...Qubty W	35179724	2022
31	The clinical and paraclinical manifestations of tuberous sclerosis complex in children. ⁶²	Barzegar M...Ebadi Z	33738777	2022
32	TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA. ⁶²	Dutta R...Kale SS	34871801	2022
33	Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. ⁶²	Hulshof HM...EPISTOP consortium	35101906	2022
34	Initial experience with magnetic resonance-guided focused ultrasound stereotactic surgery for central brain lesions in young adults. ⁶²	Tierney TS...Ragheb J	35171812	2022
35	Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities. ⁶²	De Meulemeester AS...de Witte PAM	36238691	2022
36	Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review. ⁶²	Craiu DC...Barca DG	36074682	2022
37	Mechanistic Target of Rapamycin (mTOR) Inhibitors. ⁶²	Wang D...Eisen HJ	35091825	2022
38	[Subependymal Giant Cell Astrocytoma with Tuberous Sclerosis Complex(TSC-SEGA)]. ⁶²	Ichikawa T...Niida Y	35169091	2022
39	Cytopathological and histopathological features of cerebral granular cell astrocytoma: A case report. ⁶²	Homma T...Nishikawa R	34608699	2022
40	Story of the solitary subependymal giant cell astrocytoma: A case report and literature review. ⁶²	Khan M...Tanios A	34542400	2022
41	TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma. ⁶²	Sasaki T...Goto T	34741623	2022
42	Chromosome segregation in Archaea: SegA- and SegB-DNA complex structures provide insights into segrosome assembly. ⁶²	Yen CY...Hsiao CD	34850144	2021
43	An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies. ⁶²	Shlomovitz O...Tzadok M	34491422	2021
44	Clinical trial challenges, design considerations, and outcome measures in rare CNS tumors. ⁶²	Armstrong TS...Gilbert MR	34725696	2021
45	A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. ⁶²	Babol-Pokora K...Trelinska J	34403804	2021
46	Exception from informed consent in the era of social media: The SEGA stroke trial experience. ⁶²	Inam ME...Chen PR	35071841	2021
47	Concordance in mSEGA Tool to Frailty Diagnosis between Medical Doctors and Nurses. ⁶²	Zulfiqar AA...Dembele IA	34822360	2021
48	A standardized genome architecture for bacterial synthetic biology (SEGA). ⁶²	Bayer CN...Norholm MHH	34620865	2021
49	TSC1 Mosaicism Leading to Subependymal Giant Cell Astrocytoma but Not Tuberous Sclerosis Complex. ⁶²	Hall A...Ess KC	34391197	2021
50	Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives. ⁶²	Willems LM...Strzelczyk A	34275102	2021

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Genes for Subependymal Giant Cell Astrocytoma

Genes related to Subependymal Giant Cell Astrocytoma (0 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TSC2	TSC Complex Subunit 2	Protein Coding	27.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15072102 9310961 16237225 (more) 10805093 8944308 9403714 14723270 15624760
2	SYP	Synaptophysin	Protein Coding	21.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9310961
3	TSC1	TSC Complex Subunit 1	Protein Coding	19.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15072102 15624760 8928613 (more) 18673443 12296648 16453317 20133820 10349994 15747752 15619643 14999811 9403714 19856393 15851742 10805093 16237225
4	S100B	S100 Calcium Binding Protein B	Protein Coding	18.93	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2346568 9310961
5	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	13.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	13.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15624760
7	ENO2	Enolase 2	Protein Coding	13.14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	SST	Somatostatin	Protein Coding	10.99	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	NPY	Neuropeptide Y	Protein Coding	10.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	7.09	DISEASES inferred ¹⁴
11	CRYAB	Crystallin Alpha B	Protein Coding	7.06	Novoseek inferred ⁵³	8162151
12	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	6.7	DISEASES inferred ¹⁴
13	KIAA1549	KIAA1549	Protein Coding	6.5	DISEASES inferred ¹⁴
14	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	6.5	DISEASES inferred ¹⁴
15	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	6.33	DISEASES inferred ¹⁴
16	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	6.27	DISEASES inferred ¹⁴
17	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	6.22	DISEASES inferred ¹⁴
18	NF1	Neurofibromin 1	Protein Coding	6.22	DISEASES inferred ¹⁴
19	MLST8	MTOR Associated Protein, LST8 Homolog	Protein Coding	6.1	DISEASES inferred ¹⁴
20	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	6.06	DISEASES inferred ¹⁴
21	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	6.03	DISEASES inferred ¹⁴
22	PTEN	Phosphatase And Tensin Homolog	Protein Coding	5.99	DISEASES inferred ¹⁴
23	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	5.92	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Subependymal Giant Cell Astrocytoma

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

Sources

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	Signal Transduction ⁶⁶	13.84	EIF4EBP1 FKBP1A GFAP MLST8 MTOR NF1
2	RAF/MAP kinase cascade ⁶⁶ Show member pathways Diseases of signal transduction by growth factor receptors and second messengers ⁶⁶ MAPK family signaling cascades ⁶⁶ MAPK1/MAPK3 signaling ⁶⁶	13.38	TSC2 RICTOR NF1 MTOR MLST8 KIAA1549
3	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	13.16	EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
4	PIP3 activates AKT signaling ⁶⁶ Show member pathways Intracellular signaling by second messengers ⁶⁶ PTEN Regulation ⁶⁶ Regulation of PTEN gene transcription ⁶⁶ Regulation of PTEN localization ⁶⁶	13.08	TSC2 RPTOR RICTOR RHEB MTOR MLST8
5	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	13.04	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
6	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	13.02	TSC2 TSC1 RPTOR RICTOR RHEB MTOR
7	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.84	S100B RICTOR MTOR MLST8 GFAP
8	Translation Insulin regulation of translation ²² Show member pathways Butyrate-induced histone acetylation ⁷⁴ Cell adhesion PLAU signaling ²² Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² Overview of perturbations to host-cell autophagy, induced by distinct proteins of SARS-CoV-2 ⁷⁴ Regulation of lipid metabolism Insulin signaling-generic cascades ²² Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation inhibitors in chronically activated PDGFRA cells ⁷⁴	12.84	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
9	Selective autophagy ⁶⁶ Show member pathways Aggrephagy ⁶⁶ Autophagy ⁶⁶ Lipophagy ⁶⁶ Macroautophagy ⁶⁶ Pexophagy ⁶⁶	12.82	GFAP MLST8 MTOR RHEB RPTOR TSC1
10	Malignant pleural mesothelioma ⁷⁴	12.82	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
11	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.72	TSC2 RPS6KB1 RHEB NF1 MTOR
12	Neuroscience ³	12.67	SYP S100B NPY NF1 GFAP ENO2
13	Angiopoietin-like protein 8 regulatory pathway ⁷⁴ Show member pathways Insulin signaling ⁷⁴ Liver X receptor pathway ⁷⁴	12.63	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
14	Translational Control ³ Show member pathways exRNA mechanism of action and biogenesis ⁷⁴	12.4	TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
15	Development IGF-1 receptor signaling ²² Show member pathways Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.38	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
16	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴	12.32	EIF4EBP1 MTOR RPS6KB1 RPTOR TSC1 TSC2
17	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	12.29	TSC2 TSC1 RPTOR RICTOR RHEB MTOR
18	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.29	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
19	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12.28	TSC2 RPS6KB1 RHEB MTOR
20	AMP-activated protein kinase signaling ⁷⁴ Show member pathways AMPK Signaling Pathway ⁶⁷ Leptin and adiponectin ⁷⁴	12.26	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
21	Cellular response to heat stress ⁶⁶ Show member pathways HSF1 activation ⁶⁶ Regulation of HSF1-mediated heat shock response ⁶⁶	12.23	CRYAB MLST8 MTOR RPTOR
22	Integrated breast cancer pathway ⁷⁴	12.23	TSC2 TSC1 RHEB NF1 MTOR
23	Autophagy ⁷⁴ Show member pathways Autophagy during CoV infection ⁷⁴ Host-pathogen interaction of human coronaviruses - autophagy ⁷⁴ Nanoparticle triggered autophagic cell death ⁷⁴ Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway ⁷⁴	12.2	TSC2 TSC1 RPTOR RHEB MTOR MLST8
24	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.16	TSC2 RPS6KB1 MTOR EIF4EBP1
25	mTOR Signaling ⁶⁵	12.16	EIF4EBP1 MLST8 MTOR RHEB RICTOR RPS6KB1
26	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	12.13	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
27	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	12.13	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
28	GDNF signaling ⁷⁴	12.12	SYP RPTOR RPS6KB1 MTOR
29	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	12.1	TSC2 TSC1 RPTOR RPS6KB1 RHEB NF1
30	MTOR signalling ⁶⁶ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁶ Inhibition of TSC complex formation by PKB ⁶⁶ mTORC1-mediated signalling ⁶⁶ Target of rapamycin signaling ⁷⁴	12.08	EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
31	TP53 Regulates Metabolic Genes ⁶⁶	12	TSC2 TSC1 RPTOR RHEB MTOR MLST8
32	p53 transcriptional gene network ⁷⁴	11.96	TSC2 RPTOR MTOR MLST8
33	Clear cell renal cell carcinoma pathways ⁷⁴	11.95	ENO2 MLST8 MTOR RHEB RPTOR TSC1
34	PI3K / Akt Signaling ³	11.94	TSC2 TSC1 TBC1D7 RHEB
35	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.89	MLST8 MTOR NPY RHEB RPS6KB1 RPTOR
36	Constitutive Signaling by AKT1 E17K in Cancer ⁶⁶ Show member pathways AKT phosphorylates targets in the cytosol ⁶⁶ AKT phosphorylates targets in the nucleus ⁶⁶ AKT-mediated inactivation of FOXO1A ⁶⁶ Class I PI3K signaling events mediated by Akt ⁶¹	11.87	TSC2 RICTOR MTOR MLST8
37	Interferon Pathway ⁶⁴	11.85	RPS6KB1 MTOR EIF4EBP1
38	Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ⁶¹	11.82	EIF4EBP1 MLST8 MTOR RPTOR
39	DYRK1A ⁷⁴	11.81	TSC2 TSC1 RPTOR MTOR MLST8
40	Neural Stem Cells and Lineage-specific Markers ⁶⁵	11.79	SYP S100B GFAP
41	Regulation of TP53 Expression and Degradation ⁶⁶ Show member pathways Regulation of TP53 Degradation ⁶⁶ Regulation of TP53 Expression ⁶⁶	11.76	RICTOR MTOR MLST8
42	MECP2 and associated Rett syndrome ⁷⁴	11.75	SST NF1 MTOR
43	Head and neck squamous cell carcinoma ⁷⁴	11.67	EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
44	CXCR4-mediated signaling events ⁶¹	11.64	RICTOR MTOR MLST8
45	LKB1 signaling events ⁶¹	11.56	MLST8 MTOR RPTOR TSC1 TSC2
46	HSF1-dependent transactivation ⁶⁶ Show member pathways Attenuation phase ⁶⁶ Viral RNP Complexes in the Host Cell Nucleus ⁶⁶	11.55	RPTOR MTOR MLST8 CRYAB
47	Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling ⁷⁴	11.55	RPTOR RPS6KB1 RICTOR MTOR MLST8
48	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ⁷⁴	11.39	TSC2 RPTOR RICTOR RHEB MTOR EIF4EBP1
49	CAMKK2 pathway ⁷⁴	11.36	TSC1 RPTOR MTOR
50	CXCR3-mediated signaling events ⁶¹	11.31	RICTOR MTOR MLST8

Sources

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