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

SEGA MCID: SBP001 MIFTS: 47	Subependymal Giant Cell Astrocytoma (SEGA) malady Categories: Rare diseases, Neuronal diseases, Cancer diseases
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Aliases & Classifications for Subependymal Giant Cell Astrocytoma

Aliases & Descriptions for Subependymal Giant Cell Astrocytoma:

Name: Subependymal Giant Cell Astrocytoma ¹² ⁵⁰ ⁵⁶ ¹⁴ ⁶⁹

Sega ¹² ⁵⁰ ⁵⁶

Astrocytoma Subependymal Giant Cell ⁵²

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: ⁵⁶

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:5077

MeSH ⁴² D001254

NCIt ⁴⁷ C3696

SNOMED-CT ⁶⁴ 1586004 449799008

Orphanet ⁵⁶ ORPHA251618

UMLS via Orphanet ⁷⁰ C0205768

ICD10 via Orphanet ³⁴ D43.2

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 central neurocytoma and astrocytoma, and has symptoms including headache and seizures. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC2 (Tuberous Sclerosis 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Angiopoietin Like Protein 8 Regulatory Pathway. The drugs Afinitor and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and endothelial, and related phenotypes are behavior/neurological and nervous system

Wikipedia : ⁷¹ 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 129)

id	Related Disease	Score	Top Affiliating Genes
1	central neurocytoma	30.1	GFAP SYP
2	astrocytoma	11.0
3	tuberous sclerosis	10.8
4	hemorrhagic proctocolitis	10.2	GFAP MTOR
5	melorheostosis with osteopoikilosis	10.2	TSC1 TSC2
6	hemolytic anemia due to adenylate kinase deficiency	10.2	MTOR TSC1
7	multiple mitochondrial dysfunctions syndrome 1	10.2	TSC1 TSC2
8	renal tubular transport disease	10.2	TSC1 TSC2
9	myelinoclastic diffuse sclerosis	10.2	GFAP S100B
10	bronchial mucus gland adenoma	10.2	GFAP S100B
11	spleen angiosarcoma	10.2	GFAP S100B
12	ovarian cystadenoma	10.2	GFAP S100B
13	trombiculiasis	10.2	GFAP S100B
14	biliary papillomatosis	10.2	GFAP S100B
15	porokeratosis	10.2	GFAP S100B
16	angiomyolipoma	10.2
17	sternum cancer	10.2	GFAP S100B
18	aids - neurological complications	10.2	TSC1 TSC2
19	vulvar squamous papilloma	10.2	GFAP S100B
20	buruli ulcer	10.2	TSC1 TSC2
21	diabetes hypogonadism deafness mental retardation	10.2	GFAP SYP
22	papillary tumor of the pineal region	10.2	GFAP SYP
23	brain stem ependymoma	10.2	GFAP SYP
24	intrahepatic bile duct adenoma	10.2	GFAP SYP
25	pilocytic astrocytoma of cerebellum	10.2	GFAP SYP
26	skin glomus tumor	10.2	GFAP S100B
27	children's interstitial lung disease	10.2	GFAP SYP
28	cervical benign neoplasm	10.2	GFAP SYP
29	myxopapillary ependymoma	10.2	GFAP SYP
30	epidermal appendage tumor	10.2	GFAP SYP
31	clear cell meningioma	10.2	GFAP SYP
32	cerebral folate receptor alpha deficiency	10.2	GFAP SYP
33	blood group incompatibility	10.2	GFAP SYP
34	mediastinal granular cell myoblastoma	10.2	GFAP SYP
35	mast-cell sarcoma	10.2	GFAP SYP
36	olfactory neuroblastoma	10.2	GFAP SYP
37	pineoblastoma	10.1	GFAP SYP
38	pneumothorax	10.1	GFAP SYP
39	brain stem astrocytic neoplasm	10.1	GFAP SYP
40	sebaceous adenoma	10.1	SYP TSC2
41	brain oligodendroglioma	10.1	GFAP SYP
42	arthus reaction	10.1	GFAP SYP
43	hunter macpherson syndrome	10.1	SYP TSC2
44	childhood central nervous system primitive neuroectodermal neoplasm	10.1	GFAP SYP
45	urea cycle disorder	10.1	GFAP S100B
46	factitious disorder	10.1	SYP TSC2
47	bone dysplasia azouz type	10.1	GFAP SYP
48	pancreatic cancer	10.1	GFAP SYP
49	pacinian tumor	10.1	GFAP SYP
50	temporal lobe neoplasm	10.1	GFAP 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:

headache, seizures

MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

⁴⁴

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.7	FABP7 GFAP MTOR S100B SYP TSC1
2	nervous system	MP:0003631	9.43	FABP7 GFAP MTOR SYP TSC1 TSC2
3	normal	MP:0002873	9.02	MTOR S100B SYP TSC2 GFAP

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

FDA approved drugs:

id	Drug Name	Active Ingredient(s) ¹⁷	Company	Approval Date
1	Afinitor ¹⁷ ⁴⁶	EVEROLIMUS	Novartis	Approved 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 154)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Miconazole

Approved, Investigational, Vet_approved