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

MCID: SBP001 MIFTS: 50	Subependymal Giant Cell Astrocytoma Categories: Rare diseases, Neuronal diseases, Cancer 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 ¹² ⁴⁹ ⁵⁵ ³⁶ ¹⁴ ⁶⁹

Sega ¹² ⁴⁹ ⁵⁵

Astrocytoma Subependymal Giant Cell ⁵¹

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁵

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:5077

MeSH ⁴¹ D001254

NCIt ⁴⁶ C3696

SNOMED-CT ⁶⁴ 1586004 449799008

Orphanet ⁵⁵ ORPHA251618

UMLS via Orphanet ⁷⁰ C0205768

ICD10 via Orphanet ³³ D43.2

KEGG ³⁶ H01692

UMLS ⁶⁹ C0205768

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Summaries for Subependymal Giant Cell Astrocytoma

MalaCards based summary : Subependymal Giant Cell Astrocytoma, also known as sega, is related to tuberous sclerosis 1 and gemistocytic astrocytoma, 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 Angiopoietin Like Protein 8 Regulatory Pathway. The drugs Afinitor and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotype is behavior/neurological.

Wikipedia : ⁷² 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 204)

#	Related Disease	Score	Top Affiliating Genes
1	tuberous sclerosis 1	31.6	TSC1 TSC2
2	gemistocytic astrocytoma	30.5	GFAP S100B
3	angiomyolipoma	30.4	MTOR TSC1 TSC2
4	obstructive hydrocephalus	30.3	GFAP SYP
5	astrocytoma	30.1	GFAP NES S100B SYP TSC2
6	giant cell glioblastoma	30.0	GFAP SYP
7	tuberous sclerosis	29.7	GFAP MTOR S100B SYP TSC1 TSC2
8	hydrocephalus	29.3	ENO2 GFAP NES SYP
9	central neurocytoma	29.1	ENO2 GFAP NES SYP
10	dysembryoplastic neuroepithelial tumor	28.9	GFAP NES S100B SYP
11	subependymoma	28.6	ENO2 GFAP NES SYP TSC2
12	primitive neuroectodermal tumor of the cervix uteri	10.5	ENO2 GFAP
13	melanotic medulloblastoma	10.5	ENO2 GFAP
14	cerebellar medulloblastoma	10.4	ENO2 GFAP
15	plexiform schwannoma	10.4	ENO2 GFAP
16	microcystic meningioma	10.4	ENO2 GFAP
17	integumentary system benign neoplasm	10.4	ENO2 GFAP
18	hemimegalencephaly	10.4	GFAP MTOR
19	dysgerminoma of ovary	10.3	ENO2 GFAP
20	syringocystadenoma papilliferum	10.3	GFAP S100B
21	bednar tumor	10.3	ENO2 S100B
22	chordoid glioma	10.3	GFAP S100B
23	myxopapillary ependymoma	10.3	GFAP S100B
24	juvenile pilocytic astrocytoma	10.3	ENO2 GFAP
25	epithelioid malignant peripheral nerve sheath tumor	10.3	ENO2 S100B
26	middle cerebral artery infarction	10.3	ENO2 S100B
27	ossifying fibromyxoid tumor	10.3	ENO2 S100B
28	syringoma	10.3	GFAP S100B
29	adult hepatocellular carcinoma	10.3	TSC1 TSC2
30	head injury	10.3	ENO2 S100B
31	perineurioma	10.3	GFAP S100B
32	desmoplastic infantile ganglioglioma	10.3	GFAP SYP
33	multilocular clear cell renal cell carcinoma	10.3	TSC1 TSC2
34	extraventricular neurocytoma	10.3	GFAP SYP
35	lung combined type small cell carcinoma	10.3	GFAP SYP
36	cellular ependymoma	10.3	GFAP SYP
37	gangliocytoma	10.3	GFAP SYP
38	rhabdoid meningioma	10.3	GFAP SYP
39	pilomyxoid astrocytoma	10.3	GFAP SYP
40	malignant sertoli cell tumor	10.3	ENO2 SYP
41	urinary bladder small cell neuroendocrine carcinoma	10.3	ENO2 SYP
42	lissencephaly with cerebellar hypoplasia	10.2	TSC1 TSC2
43	sinonasal undifferentiated carcinoma	10.2	ENO2 SYP
44	auditory system cancer	10.2	ENO2 SYP
45	meningeal melanocytoma	10.2	ENO2 S100B
46	chiari malformation	10.2	GFAP SYP
47	cutaneous ganglioneuroma	10.2	ENO2 SYP
48	sensory organ benign neoplasm	10.2	ENO2 SYP
49	middle ear adenoma	10.2	ENO2 SYP
50	gallbladder small cell carcinoma	10.2	ENO2 SYP

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:

seizures, headache

MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

⁴³

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.17	ENO2 GFAP MTOR S100B SYP TSC1

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

FDA approved drugs:

#	Drug Name	Active Ingredient(s) ¹⁷	Company	Approval Date
1	Afinitor ¹⁷ ⁴⁵	EVEROLIMUS	Novartis	March 2009
FDA Label: Afinitor Disease/s that Drug Treats:renal cell carcinoma/ renal angiomyolipoma associated with tuberous sclerosis complex/ advanced pancreatic neuroendocrine tumors/ hormone receptor-positive, HER2-negative breast cancer Indications and Usage: ¹⁷ AFINITOR is a kinase inhibitor indicated for the treatment of: postmenopausal women with advanced hormone receptor-positive, HER2- negative breast cancer (advanced HR+ BC) in combination with exemestane after failure of treatment with letrozole or anastrozole. (1.1) adults with progressive neuroendocrine tumors of pancreatic origin (PNET) that are unresectable, locally advanced or metastatic. AFINITOR is not indicated for the treatment of patients with functional carcinoid tumors. (1.2) adults with advanced renal cell carcinoma (RCC) after failure of treatment with sunitinib or sorafenib. (1.3) adults with renal angiomyolipoma and tuberous sclerosis complex (TSC), not requiring immediate surgery. The effectiveness of AFINITOR in the treatment of renal angiomyolipoma is based on an analysis of durable objective responses in patients treated for a median of 8.3 months. Further follow-up of patients is required to determine long-term outcomes. (1.4) AFINITOR and AFINITOR DISPERZ are kinase inhibitors indicated for the treatment of: pediatric and adult patients with tuberous sclerosis complex (TSC) who have subependymal giant cell astrocytoma (SEGA) that requires therapeutic intervention but cannot be curatively resected. The effectiveness is based on demonstration of durable objective response, as evidenced by reduction in SEGA tumor volume. Improvement in diseaserelated symptoms and overall survival in patients with SEGA and TSC has not been demonstrated. (1.5) DrugBank Targets: ¹⁵ Serine/threonine-protein kinase mTOR Mechanism of Action: ¹⁷ Target: mTOR Action: inhibitor FDA: Everolimus is an inhibitor of mammalian target of rapamycin (mTOR), a serine-threonine kinase, downstream of thePI3K/AKT pathway. The mTOR pathway is dysregulated in several human cancers. Everolimus binds to an intracellularprotein, FKBP-12, resulting in an inhibitory complex formation with mTOR complex 1 (mTORC1) and thus inhibition ofmTOR kinase activity. Everolimus reduced the activity of S6 ribosomal protein kinase (S6K1) and eukaryotic initiationfactor 4E-binding protein (4E-BP1), downstream effectors of mTOR, involved in protein synthesis. S6K1 is a substrate ofmTORC1 and phosphorylates the activation domain 1 of the estrogen receptor which results in ligand-independentactivation of the receptor. In addition, everolimus inhibited the expression of hypoxia-inducible factor (e.g., HIF-1) andreduced the expression of vascular endothelial growth factor (VEGF). Inhibition of mTOR by everolimus has been shownto reduce cell proliferation, angiogenesis, and glucose uptake in in vitro and/or in vivo studies.Constitutive activation of the PI3K/Akt/mTOR pathway can contribute to endocrine resistance in breast cancer. In vitrostudies show that estrogen-dependent and HER2+ breast cancer cells are sensitive to the inhibitory effects of everolimus,and that combination treatment with everolimus and Akt, HER2, or aromatase inhibitors enhances the anti-tumor activityof everolimus in a synergistic manner.Two regulators of mTORC1 signaling are the oncogene suppressors tuberin-sclerosis complexes 1 and 2 (TSC1, TSC2).Loss or inactivation of either TSC1 or TSC2 leads to activation of downstream signaling. In TSC, a genetic disorder,inactivating mutations in either the TSC1 or the TSC2 gene lead to hamartoma formation throughout the body.

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

(show top 50) (show all 143)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Everolimus

Approved