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

SEGA MCID: SBP001 MIFTS: 51	Subependymal Giant Cell Astrocytoma (SEGA) Categories: Cancer diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways 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 ¹² ⁵³ ⁵⁹ ³⁷ ¹⁵ ⁷³

Sega ¹² ⁵³ ⁵⁹

Astrocytoma Subependymal Giant Cell ⁵⁵

Subependymal Giant-Cell Astrocytoma ⁶

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:5077

MeSH ⁴⁴ D001254

NCIt ⁵⁰ C3696

SNOMED-CT ⁶⁸ 1586004

Orphanet ⁵⁹ ORPHA251618

UMLS via Orphanet ⁷⁴ C0205768

ICD10 via Orphanet ³⁴ D43.2

KEGG ³⁷ H01692

UMLS ⁷³ 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 tuberous sclerosis, and has symptoms including seizures and headache. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and mTOR signaling pathway (KEGG). The drugs Afinitor and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and liver, and related phenotypes are behavior/neurological and nervous system

Wikipedia : ⁷⁶ 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 213)

#	Related Disease	Score	Top Affiliating Genes
1	tuberous sclerosis 1	31.4	MTOR TSC1 TSC2
2	tuberous sclerosis	30.9	GFAP MTOR S100B SYP TSC1 TSC2
3	angiomyolipoma	30.7	MTOR TSC1 TSC2
4	kidney angiomyolipoma	30.6	MTOR TSC1 TSC2
5	giant cell glioblastoma	30.5	GFAP SYP
6	gemistocytic astrocytoma	30.4	GFAP S100B
7	obstructive hydrocephalus	30.3	GFAP SYP
8	hydrocephalus	30.1	ENO2 GFAP NES SYP
9	astrocytoma	11.2
10	epilepsy	10.4
11	neuroblastoma	10.3
12	ileum cancer	10.3	ENO2 GFAP
13	scrapie	10.3	ENO2 GFAP
14	dysgerminoma of ovary	10.3	ENO2 GFAP
15	juvenile pilocytic astrocytoma	10.3	ENO2 GFAP
16	alexander disease	10.2	GFAP MTOR
17	primitive neuroectodermal tumor of the cervix uteri	10.2	ENO2 GFAP
18	melanotic medulloblastoma	10.2	ENO2 GFAP
19	meningioma, radiation-induced	10.2	GFAP S100B
20	myoepithelioma	10.2	GFAP S100B
21	pilomatrixoma	10.2	ENO2 S100B
22	cerebellar medulloblastoma	10.2	ENO2 GFAP
23	spondylosis	10.2	ENO2 S100B
24	extraosseous ewing's sarcoma	10.2	ENO2 S100B
25	meningeal melanocytoma	10.2	ENO2 S100B
26	acute mountain sickness	10.2	ENO2 S100B
27	plexiform schwannoma	10.2	ENO2 GFAP
28	pineoblastoma	10.2	GFAP SYP
29	atypical teratoid rhabdoid tumor	10.2	GFAP SYP
30	cerebellopontine angle tumor	10.2	GFAP SYP
31	pilomyxoid astrocytoma	10.2	GFAP SYP
32	binswanger's disease	10.2	GFAP SYP
33	chondrosarcoma, extraskeletal myxoid	10.2	ENO2 SYP
34	connective tissue benign neoplasm	10.2	ENO2 SYP
35	microcystic meningioma	10.2	ENO2 GFAP
36	malignant pheochromocytoma	10.2	ENO2 SYP
37	mixed cell type cancer	10.2	ENO2 SYP
38	adrenal rest tumor	10.2	ENO2 SYP
39	glomus tumor	10.2	ENO2 SYP
40	cranial nerve malignant neoplasm	10.2	ENO2 SYP
41	intraocular retinoblastoma	10.2	ENO2 SYP
42	pineal parenchymal tumor of intermediate differentiation	10.2	ENO2 SYP
43	basaloid squamous cell carcinoma	10.2	ENO2 SYP
44	cervix small cell carcinoma	10.2	ENO2 SYP
45	mixed ductal-endocrine carcinoma	10.2	ENO2 SYP
46	carcinoid syndrome	10.2	ENO2 SYP
47	granulosa cell tumor of the ovary	10.2	ENO2 SYP
48	corneal dystrophy, fleck	10.2	TSC1 TSC2
49	congenital heart defects, hamartomas of tongue, and polysyndactyly	10.2	TSC1 TSC2
50	bednar tumor	10.2	ENO2 S100B

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:

⁴⁶

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

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

FDA approved drugs:

#	Drug Name	Active Ingredient(s) ¹⁸	Company	Approval Date
1	Afinitor ¹⁸ ⁴⁹	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: ¹⁸ 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: ¹⁶ Serine/threonine-protein kinase mTOR Mechanism of Action: ¹⁸ 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 145)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Everolimus

Approved