MCID: GNG004
MIFTS: 50

Ganglioglioma malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Ganglioglioma

Aliases & Descriptions for Ganglioglioma:

Name: Ganglioglioma 12 50 56 52 42 14 69
Childhood Ganglioglioma 12 69
Adult Ganglioglioma 12 69
Mixed Cell Tumors Containing Both Neural Ganglionic Cells and Neural Glial Cell Components 50
Cns Ganglioglioma 12

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5078
MeSH 42 D018303
Orphanet 56 ORPHA251949
UMLS via Orphanet 70 C0206716

Summaries for Ganglioglioma

NIH Rare Diseases : 50 a ganglioglioma is a rare type of brain tumor, accounting for approximately 1% of all brain tumors.  gangliogliomas occur when a single cell in the brain starts to divide into more cells, forming a tumor.  this can occur when the cell randomly acquires changes (mutations) in genes that regulate how a cell divides.  most gangliogliomas grow slowly and are considered benign.  however, up to 10% of gangliogliomas may grow more rapidly and become malignant, meaning the tumor affects the surrounding brain tissue.    the main treatment for ganglioglioma is removal of the entire tumor during surgery.  if the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy.  unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition. last updated: 7/11/2011

MalaCards based summary : Ganglioglioma, also known as childhood ganglioglioma, is related to pleomorphic xanthoastrocytoma and pilocytic astrocytoma, and has symptoms including seizures An important gene associated with Ganglioglioma is SYP (Synaptophysin), and among its related pathways/superpathways are Neuroscience and mTOR signaling pathway (KEGG). The drugs Dabrafenib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are Increased proliferation and behavior/neurological

Disease Ontology : 12 A cell type benign neoplasm that has material basis in glial-type cells.

Wikipedia : 71 Ganglioglioma is a rare, slow-growing primary central nervous system (CNS) tumor which most frequently... more...

Related Diseases for Ganglioglioma

Diseases related to Ganglioglioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 229)
id Related Disease Score Top Affiliating Genes
1 pleomorphic xanthoastrocytoma 30.0 GFAP SYP TSC1 TSC2
2 pilocytic astrocytoma 29.7 GFAP SYP TSC1 TSC2
3 basal cell nevus syndrome 28.5 GFAP MAP2 NES SMARCB1 SYP TP53
4 anaplastic ganglioglioma 12.3
5 desmoplastic infantile ganglioglioma 12.0
6 desmoplastic infantile astrocytoma/ganglioglioma 11.9
7 nasal ganglioglioma 11.9
8 gangliocytoma 11.2
9 diabetes hypogonadism deafness mental retardation 10.3 GFAP SYP
10 papillary tumor of the pineal region 10.3 GFAP SYP
11 hypothalamic neoplasm 10.3 GFAP NES
12 intrahepatic bile duct adenoma 10.3 GFAP SYP
13 angiofollicular lymph hyperplasia 10.3 GFAP NES
14 pilocytic astrocytoma of cerebellum 10.3 GFAP SYP
15 epidermal appendage tumor 10.3 GFAP SYP
16 childhood kidney cell carcinoma 10.3 GFAP NES
17 peroneal nerve paralysis 10.3 CHGA SYP
18 thymus small cell carcinoma 10.3 CHGA SYP
19 cerebral folate receptor alpha deficiency 10.3 GFAP SYP
20 non specific chronic endometritis 10.3 CHGA SYP
21 extrahepatic biliary papillomatosis 10.3 CHGA SYP
22 prolactin producing pituitary tumor 10.3 CHGA SYP
23 epithelioid malignant peripheral nerve sheath tumor 10.3 CHGA SYP
24 cartilage cancer 10.3 CHGA SYP
25 villous adenocarcinoma 10.3 CHGA SYP
26 renal pelvis adenocarcinoma 10.2 CHGA SYP
27 spasmodic dysphonia 10.2 CHGA SYP
28 endometrial stromal sarcoma 10.2 CHGA GFAP
29 barre-lieou syndrome 10.2 CHGA SYP
30 myelinoclastic diffuse sclerosis 10.2 GFAP S100B
31 gastric duplication cysts 10.2 CHGA SYP
32 diffuse cutaneous mastocytosis 10.2 CHGA SYP
33 mediastinal granular cell myoblastoma 10.2 GFAP SYP
34 bronchial mucus gland adenoma 10.2 GFAP S100B
35 spleen angiosarcoma 10.2 GFAP S100B
36 ovarian cystadenoma 10.2 GFAP S100B
37 central neurocytoma 10.2 GFAP SYP
38 melorheostosis with osteopoikilosis 10.2 TSC1 TSC2
39 liver fibrosarcoma 10.2 GFAP TP53
40 well-differentiated thymic neuroendocrine carcinoma 10.2 BRAF TP53
41 main bronchus cancer 10.2 CHGA SYP
42 nephrogenic adenoma of urinary bladder 10.2 GFAP NES SYP
43 cervical adenoid cystic carcinoma 10.2 GFAP TP53
44 gliofibroma 10.2 CHGA SYP
45 male reproductive system disease 10.2 GFAP NES SYP
46 pineal gland astrocytoma 10.2 BRAF TP53
47 glomeruloid hemangioma 10.2 BRAF GFAP SYP
48 corneal intraepithelial neoplasm 10.2 S100B SYP
49 spondylarthropathy 10.2 BRAF TP53
50 bronchitis 10.2 GFAP TP53

Graphical network of the top 20 diseases related to Ganglioglioma:



Diseases related to Ganglioglioma

Symptoms & Phenotypes for Ganglioglioma

UMLS symptoms related to Ganglioglioma:


seizures

GenomeRNAi Phenotypes related to Ganglioglioma according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Ganglioglioma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 BRAF GFAP MAP2 S100B SMARCB1 SYP
2 cardiovascular system MP:0005385 9.87 CHGA GFAP SMARCB1 TP53 TSC1 TSC2
3 growth/size/body region MP:0005378 9.86 BRAF CHGA GFAP MAP2 SMARCB1 TP53
4 nervous system MP:0003631 9.56 BRAF GFAP MAP2 SMARCB1 SYP TP53
5 neoplasm MP:0002006 9.55 BRAF SMARCB1 TP53 TSC1 TSC2
6 reproductive system MP:0005389 9.17 BRAF CHGA MAP2 SMARCB1 TP53 TSC1

Drugs & Therapeutics for Ganglioglioma

Drugs for Ganglioglioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved Phase 2 44462760 44516822
2 Protein Kinase Inhibitors Phase 2
3
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
4
Bevacizumab Approved, Investigational Phase 1 216974-75-3
5
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
6
Camptothecin Experimental Phase 1 7689-03-4
7 topoisomerase I inhibitors Phase 1
8 Topoisomerase Inhibitors Phase 1
9 Angiogenesis Inhibitors Phase 1
10 Angiogenesis Modulating Agents Phase 1
11 Antineoplastic Agents, Phytogenic Phase 1
12 Alkylating Agents Phase 1
13 Anesthetics Phase 1
14 Immunosuppressive Agents Phase 1
15 Antirheumatic Agents Phase 1
16 Antineoplastic Agents, Alkylating Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Antineoplaston Therapy in Treating Children With Brain Tumors Completed NCT00003458 Phase 2
2 Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation Recruiting NCT01288235 Phase 2
3 Phase II Pediatric Study With Dabrafenib in HGG Patients Not yet recruiting NCT02684058 Phase 2
4 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1
5 A Study of the Treatment of Recurrent Malignant Glioma With rQNestin34.5v.2 Not yet recruiting NCT03152318 Phase 1
6 Astrocytoma / Desmoplastic Gamliogliomes (DIA / DIG) - Study of the French Cohort of the Last 20 Years : Clinical, Anatomopathological, Molecular and Radiological Charactersics Recruiting NCT03115164

Search NIH Clinical Center for Ganglioglioma

Cochrane evidence based reviews: ganglioglioma

Genetic Tests for Ganglioglioma

Anatomical Context for Ganglioglioma

MalaCards organs/tissues related to Ganglioglioma:

39
Brain, Temporal Lobe, Spinal Cord, Cerebellum, Pineal, Cortex, Thalamus

Publications for Ganglioglioma

Articles related to Ganglioglioma:

(show top 50) (show all 444)
id Title Authors Year
1
Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma. ( 27718322 )
2017
2
Desmoplastic infantile astrocytoma and ganglioglioma: case report and review of the literature. ( 27668845 )
2017
3
Ganglioglioma of the posterior third ventricle region: An unusual pathology in an uncommon location. ( 26954825 )
2016
4
Progression of Atypical Extraventricular Neurocytoma to Anaplastic Ganglioglioma. ( 27597523 )
2016
5
Pediatric intracranial primary anaplastic ganglioglioma. ( 27921213 )
2016
6
Infratentorial ganglioglioma mimicking pilocytic astrocytoma. ( 27936528 )
2016
7
Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation. ( 27860162 )
2016
8
Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma. ( 27761184 )
2016
9
Bilateral internal auditory canal gangliogliomas mimicking neurofibromatosis Type II. ( 27127704 )
2016
10
Journal Club: Pediatric Low-Grade Ganglioglioma: Epidemiology, Treatments, and Outcome Analysis on 348 Children From the Surveillance, Epidemiology, and End Results Database. ( 27428631 )
2016
11
Application of diffusion-weighted imaging and dynamic susceptibility contrast perfusion-weighted imaging for ganglioglioma in adults: Comparison study with oligodendroglioma. ( 27502573 )
2016
12
Recurrent ganglioglioma in adults treated with BRAF inhibitors. ( 26680369 )
2016
13
Response to Journal Club: Pediatric Low-Grade Ganglioglioma: Epidemiology, Treatments, and Outcome Analysis of 348 Children From the Surveillance, Epidemiology, and End Results Database. ( 27428632 )
2016
14
Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report. ( 27015517 )
2016
15
Newly diagnosed ganglioglioma in an adult patient with multiple sclerosis. ( 27653865 )
2016
16
Clinical Neuropathology image 5-2016: nNeurofibrillary tangle-rich ganglioglioma. ( 27546017 )
2016
17
Genetic Characterization of a Multifocal Ganglioglioma Originating Within the Spinal Cord. ( 27671879 )
2016
18
Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas. ( 27142828 )
2016
19
Long-term drug-resistant temporal lobe epilepsy associated with a mixed ganglioglioma and dysembryoplastic neuroepithelial tumor in an elderly patient. ( 27127715 )
2016
20
Ganglioglioma arising from olfactory sheath: A rare site of an uncommon tumor. ( 26874814 )
2016
21
Growth hormone secreting pituitary adenoma with admixed gangliocytoma and ganglioglioma. ( 27068013 )
2016
22
Co-occurrence of Histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. ( 27984673 )
2016
23
Ganglioglioma of conus medullaris in a patient of neurofibromatosis type 1: A novel association? ( 27695570 )
2016
24
Unusual ganglioglioma with extensive calcification and ossification. ( 27510688 )
2016
25
Personalized Treatment for a Patient With a BRAF V600E Mutation Using Dabrafenib and a Tumor Treatment Fields Device in a High-Grade Glioma Arising From Ganglioglioma. ( 27799506 )
2016
26
Ganglioglioma: Single-institutional experience of 24 cases with review of literature. ( 27695546 )
2016
27
Desmoplastic infantile ganglioglioma with focal cortical dysplasia: A rare double pathology in an infant with history of seizures. ( 26991995 )
2016
28
Supratentorial tumors typical of the infantile age: desmoplastic infantile ganglioglioma (DIG) and astrocytoma (DIA). A review. ( 27659826 )
2016
29
Concurrent Intraventricular and Sacral Spinal Drop Metastasis of Ganglioglioma in an Adult Patient: A Case Report and Review of Literature. ( 27158568 )
2016
30
Successful Retreatment of a Child with a Refractory Brainstem Ganglioglioma with Vemurafenib. ( 26579623 )
2016
31
Serial imaging and management of ganglioglioma with unusual presentation and meningeal spread. ( 27853879 )
2016
32
Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma. ( 27539475 )
2016
33
K27M mutation in H3F3A in ganglioglioma grade I with spontaneous malignant transformation extends the histopathological spectrum of the histone H3 oncogenic pathway. ( 27219822 )
2016
34
Coexistent ganglioglioma, focal cortical dysplasia, and hippocampal sclerosis (triple pathology) in chronic epilepsy. ( 26235882 )
2015
35
Anaplastic ganglioglioma: a report of three cases and review of the literature. ( 25862009 )
2015
36
Dysplastic Cerebellar Epilepsy: Complete Seizure Control Following Resection of a Ganglioglioma. ( 26208704 )
2015
37
Non-infantile variant of desmoplastic ganglioglioma: Conventional and advanced MR imaging characteristics. ( 26246092 )
2015
38
Desmoplastic infantile ganglioglioma with associated giant aneurysma89case report. ( 25922053 )
2015
39
Pediatric low-grade ganglioglioma: epidemiology, treatments, and outcome analysis on 348 children from the surveillance, epidemiology, and end results database. ( 25603107 )
2015
40
Pediatric infratentorial ganglioglioma. ( 26351224 )
2015
41
Bilateral Optic Pathway Ganglioglioma: The Fifth Case in the Literature. ( 26488468 )
2015
42
BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas. ( 25937573 )
2015
43
Pigmented ganglioglioma in a patient with chronic epilepsy and cortical dysplasia. ( 26432496 )
2015
44
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report. ( 25850602 )
2015
45
Differential expression and clinical significance of three inflammation-related microRNAs in gangliogliomas. ( 25986346 )
2015
46
Atypical pediatric ganglioglioma is common and associated with a less favorable clinical course. ( 26431248 )
2015
47
Ganglioglioma of the Spinal Cord. ( 26605127 )
2015
48
Suggestive value of predilection site and imaging features of pediatric brainstem ganglioglioma including a case report. ( 25665772 )
2015
49
Recurrent papillary glioneuronal tumor presenting as a ganglioglioma with the BRAF V600E mutation. ( 26073619 )
2015
50
Greater extent of resection improves ganglioglioma recurrence-free survival in children: a volumetric analysis. ( 24625425 )
2014

Variations for Ganglioglioma

Cosmic variations for Ganglioglioma:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 9
2 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 9
3 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 3
4 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 3
5 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 3
6 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 3
7 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 3

Expression for Ganglioglioma

Search GEO for disease gene expression data for Ganglioglioma.

Pathways for Ganglioglioma

GO Terms for Ganglioglioma

Cellular components related to Ganglioglioma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Ganglioglioma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of TOR signaling GO:0032007 9.37 TSC1 TSC2
2 negative regulation of insulin receptor signaling pathway GO:0046627 9.32 TSC1 TSC2
3 positive regulation of macroautophagy GO:0016239 9.26 TSC1 TSC2
4 regulation of neuronal synaptic plasticity GO:0048168 9.16 S100B SYP
5 cell cycle arrest GO:0007050 9.13 TP53 TSC1 TSC2
6 negative regulation of cell proliferation GO:0008285 8.92 SMARCB1 TP53 TSC1 TSC2

Molecular functions related to Ganglioglioma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 BRAF GFAP S100B SYP TP53
2 small GTPase binding GO:0031267 8.96 BRAF TSC2

Sources for Ganglioglioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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