MCID: GNG005
MIFTS: 52

Gangliocytoma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gangliocytoma

MalaCards integrated aliases for Gangliocytoma:

Name: Gangliocytoma 12 53 59 15
Ganglioneuroma 44 72

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2426
MeSH 44 D005729
NCIt 50 C6934
SNOMED-CT 68 53801007
ICD10 via Orphanet 34 D36.1
Orphanet 59 ORPHA251937
UMLS 72 C0017075

Summaries for Gangliocytoma

NIH Rare Diseases : 53 Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor. Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease).

MalaCards based summary : Gangliocytoma, also known as ganglioneuroma, is related to pheochromocytoma and oligodendroglioma, and has symptoms including seizures An important gene associated with Gangliocytoma is C9orf72 (C9orf72-SMCR8 Complex Subunit), and among its related pathways/superpathways are Neuroscience and Circadian rythm related genes. The drugs Trametinib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, pituitary and temporal lobe, and related phenotypes are ganglioneuroma and headache

Disease Ontology : 12 A central nervous system benign neoplasm that has material basis in mature neurons, and is classified by the absence of neoplastic glial cells.

Wikipedia : 75 Ganglioglioma is a rare, slow-growing primary central nervous system (CNS) tumor which most frequently... more...

Related Diseases for Gangliocytoma

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

(show top 50) (show all 346)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 30.6 TH SYP CRH
2 oligodendroglioma 30.3 SYP PTEN
3 adrenal carcinoma 30.1 SYP CRH
4 benign ependymoma 29.8 SYP RBFOX3
5 amyotrophic lateral sclerosis 1 29.6 TH SYP C9orf72
6 meningioma, familial 29.5 SYP PTEN
7 endocrine gland cancer 29.2 SYP PTEN
8 cutaneous ganglioneuroma 12.5
9 central hypoventilation syndrome, congenital 11.8
10 cowden syndrome 11.7
11 cowden syndrome 1 11.7
12 multiple endocrine neoplasia, type iib 11.7
13 multiple endocrine neoplasia, type iia 11.5
14 appendix adenocarcinoma 11.2
15 adenoma 10.7
16 pituitary adenoma 10.7
17 adrenal gland pheochromocytoma 10.6
18 neurofibromatosis, type iv, of riccardi 10.6
19 acromegaly 10.6
20 ganglioneuroblastoma 10.6
21 diarrhea 10.5
22 paraganglioma 10.4
23 ganglioglioma 10.4
24 neurofibroma 10.4
25 hydrocephalus 10.4
26 congenital hydrocephalus 10.4
27 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
28 multiple endocrine neoplasia 10.3
29 hypoganglionosis 10.3 TH SYP
30 ataxia and polyneuropathy, adult-onset 10.3
31 pituitary adenoma, prolactin-secreting 10.3
32 back pain 10.3
33 supratentorial primitive neuroectodermal tumor 10.3 TH SYP
34 perry syndrome 10.3 TH C9orf72
35 horner's syndrome 10.3
36 malignant peripheral nerve sheath tumor 10.3
37 visual epilepsy 10.2
38 seizure disorder 10.2
39 mixed type thymoma 10.2 SYP PTEN
40 anaplastic ependymoma 10.2 SYP PTEN
41 peripheral nervous system neoplasm 10.2 TH SYP
42 galactorrhea 10.2
43 meningioma, radiation-induced 10.2
44 hyperprolactinemia 10.2
45 scoliosis 10.2
46 spinal meningioma 10.2
47 secretory meningioma 10.2
48 lymphoplasmacyte-rich meningioma 10.2
49 acth-secreting pituitary adenoma 10.2
50 neuronal tumor 10.2

Graphical network of the top 20 diseases related to Gangliocytoma:



Diseases related to Gangliocytoma

Symptoms & Phenotypes for Gangliocytoma

Human phenotypes related to Gangliocytoma:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0003005
2 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
3 spinal cord tumor 59 32 frequent (33%) Frequent (79-30%) HP:0010302
4 hemianopia 32 frequent (33%) HP:0012377
5 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
8 focal-onset seizure 59 32 occasional (7.5%) Occasional (29-5%) HP:0007359
9 growth hormone excess 59 32 occasional (7.5%) Occasional (29-5%) HP:0000845
10 pituitary null cell adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0011761
11 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
12 abnormality of brainstem morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002363
13 impotence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000802
14 adrenocorticotropic hormone excess 59 32 occasional (7.5%) Occasional (29-5%) HP:0011749
15 distal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002460
16 amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000141
17 decreased female libido 59 32 occasional (7.5%) Occasional (29-5%) HP:0030018
18 abnormal prolactin level 59 32 occasional (7.5%) Occasional (29-5%) HP:0040086
19 dementia 59 32 very rare (1%) Very rare (<4-1%) HP:0000726
20 pituitary prolactin cell adenoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006767
21 polyphagia 59 32 very rare (1%) Very rare (<4-1%) HP:0002591
22 abnormal cerebellum morphology 59 32 very rare (1%) Very rare (<4-1%) HP:0001317
23 excessive daytime somnolence 59 32 very rare (1%) Very rare (<4-1%) HP:0001262
24 syringomyelia 59 32 very rare (1%) Very rare (<4-1%) HP:0003396
25 hemianopsia 59 Frequent (79-30%)
26 neoplasm of the central nervous system 59 Frequent (79-30%)
27 abnormality of the pituitary gland 59 Occasional (29-5%)

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.26 CRH GHRH PTEN TH
2 nervous system MP:0003631 9.1 C9orf72 CRH GHRH PTEN SYP TH

Drugs & Therapeutics for Gangliocytoma

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 4 871700-17-3 11707110
2
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
3 Protein Kinase Inhibitors Phase 4
4
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
5
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
6 Antineoplastic Agents, Phytogenic Phase 2
7 Tubulin Modulators Phase 2
8 Antimitotic Agents Phase 2
9
Irinotecan Approved, Investigational Phase 1 100286-90-6, 97682-44-5 60838
10
Bevacizumab Approved, Investigational Phase 1 216974-75-3
11 Angiogenesis Inhibitors Phase 1
12 topoisomerase I inhibitors Phase 1
13 Angiogenesis Modulating Agents Phase 1
14 Antineoplastic Agents, Immunological Phase 1
15 Topoisomerase Inhibitors Phase 1
16
Cisplatin Approved 15663-27-1 84093 441203 2767
17
Etoposide Approved 33419-42-0 36462
18
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
19
Octreotide Approved, Investigational 83150-76-9 383414 6400441
20 Alkylating Agents
21 Immunosuppressive Agents
22 Immunologic Factors
23 Antineoplastic Agents, Alkylating
24 Etoposide phosphate
25 Antirheumatic Agents
26 Gastrointestinal Agents
27 Fluorodeoxyglucose F18
28 Radiopharmaceuticals
29 Antineoplastic Agents, Hormonal
30 Edotreotide

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
2 Phase II Open-label Global Study to Evaluate the Effect of Dabrafenib in Combination With Trametinib in Children and Adolescent Patients With BRAF V600 Mutation Positive Low Grade Glioma (LGG) or Relapsed or Refractory High Grade Glioma (HGG) Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
3 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors, A Feasibility Study Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
4 Protocol for Infants With Neuroblastoma Diagnosed Under the Age of One Year Unknown status NCT00287950 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
5 Evaluation of the Safety and Sensitivity of 68Ga-DOTATOC PET/CT for Imaging NET Patients Recruiting NCT03583528
6 International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry Recruiting NCT03088020
7 Utility of Gallium-68-DOTA-Octreotate PET/CT in the Characterization of Pediatric Neuroendocrine Tumors Not yet recruiting NCT04040088 Early Phase 1 Gallium Ga 68-DOTATATE
8 Protocol for the Enrollment on the Official COG Registry, The Childhood Cancer Research Network (CCRN) Children s Oncology Group Terminated NCT01117168

Search NIH Clinical Center for Gangliocytoma

Cochrane evidence based reviews: ganglioneuroma

Genetic Tests for Gangliocytoma

Anatomical Context for Gangliocytoma

MalaCards organs/tissues related to Gangliocytoma:

41
Cerebellum, Pituitary, Temporal Lobe, Brain, Spinal Cord, Adrenal Gland, Colon

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 1807)
# Title Authors PMID Year
1
Involvement of A3 Adenosine Receptor in Neuroblastoma Progression via Modulation of the Hypoxic/Angiogenic Pathway. 38
31166001 2019
2
Comprehensive Evaluation of Rare Pituitary Lesions: A Single Tertiary Care Pituitary Center Experience and Review of the Literature. 38
31209729 2019
3
Glioneuronal Tumor With Features of Ganglioglioma and Neurocytoma Arising in the Fourth Ventricle: A Report of 2 Unusual Cases and a Review of Infratentorial Gangliogliomas. 38
31361005 2019
4
Footpad peripheral ganglioneuroblastoma in a dog. 38
30950551 2019
5
Multidisciplinary surgical strategy for dumbbell neuroblastoma: A single-center experience of 32 cases. 38
30828979 2019
6
Frequency of ALK and GD2 Expression in Neuroblastoma. 38
30955398 2019
7
Congenital malformation syndromes associated with peripheral neuroblastic tumors: A systematic review. 38
31264798 2019
8
Presacral masses and sacrococcygeal teratomas in patients with and without anorectal malformations: A single institution comparative study. 38
30630596 2019
9
Case report of severe psychiatric sequelae in a 16-year-old female following resection of a purely dopamine-secreting ganglioneuroma. 38
31394385 2019
10
Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review. 38
30905649 2019
11
Imaging Analysis of Ganglioneuroma and Quantitative Analysis of Paraspinal Ganglioneuroma. 38
31306406 2019
12
Laparoscopic adrenalectomy for ganglioneuroma presenting as an adrenal incidentaloma. 38
30618428 2019
13
Targeting β3-adrenergic receptor signaling inhibits neuroblastoma cell growth via suppressing the mTOR pathway. 38
31030945 2019
14
Cytopathological spectrum of peripheral neuroblastic tumours in fine needle aspiration cytology and categorisation as per International Neuroblastoma Pathology Classification. 38
31231909 2019
15
Very Unusual Sellar/Suprasellar Region Masses: A Review. 38
31233145 2019
16
Early Basal Cortisol Level as a Predictor of Hypothalamic-Pituitary-Adrenal (HPA) Axis Function After Pituitary Tumor Surgery. 38
31091548 2019
17
Approach to a Posterior Cervicomediastinal Ganglioneuroma. 38
30365962 2019
18
[Ganglioneuroma in poststyloid space removed under endoscope through transoral approach: a case report]. 38
31163562 2019
19
Paravertebral lipomatous ganglioneuroma with intraspinal extension. Case report and literature review. 38
31129025 2019
20
Lumbar ganglioneuroma from the paravertebral body presenting in continuity between intra- and extradural spaces: a case report. 38
31102769 2019
21
Cutaneous ganglioneuroma: A case report and discussion of the literature. 38
30632184 2019
22
Pathological thoracic spine scoliosis due to ganglioneuroma. 38
31033504 2019
23
Adrenal masses in children: Imaging, surgical treatment and outcome. 38
30962018 2019
24
Cervical ganglioneuroma: A case report and review of the literature. 38
30985715 2019
25
Retroperitoneoscopic resection of a T11-L2 right-sided ganglioneuroma. 38
30879753 2019
26
HuC/D expression in small round cell tumors and neuroendocrine tumors: a useful tool for distinguishing neuroblastoma from childhood small round cell tumors. 38
30468801 2019
27
Parapharyngeal Ganglioneuroma Detected by 18F-FDG PET/CT in a Patient With Hodgkin Lymphoma. 38
30672755 2019
28
Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma. 38
30407243 2019
29
Laparoscopic Extirpation of Adrenal Gland Ganglioneuroma Incidentally Diagnosed During Evaluation for Patchy Alopecia Areata in an Adolescent Boy. 38
30897574 2019
30
Laparoscopic celiac plexus ganglioneuroma resection: A video case report. 38
31057703 2019
31
Giant spinal nerve sheath tumours - Surgical challenges: case series and literature review. 38
30836023 2019
32
Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). 38
30366139 2019
33
Pinpointing a potential role for CLEC12B in cancer predisposition through familial exome sequencing. 38
30350915 2019
34
Hypothalamic Vasopressin-Producing Tumors: Often Inappropriate Diuresis But Occasionally Cushing Disease. 38
30379651 2019
35
Bilateral and symmetric C1-C2 dumbbell ganglioneuromas associated with neurofibromatosis type 1: A case report. 38
30637260 2019
36
High Oct4 expression: implications in the pathogenesis of neuroblastic tumours. 38
30606139 2019
37
Quantitative DWI predicts event-free survival in children with neuroblastic tumours: preliminary findings from a retrospective cohort study. 38
30701332 2019
38
Retroperitoneal Ganglioneuroma (GN): Case report in 14 years old boy. 38
31220681 2019
39
[Solitary ganglioneuroma of the oropharynx]. 38
31006779 2019
40
Intraoperative Nerve Monitoring in Robotic-Assisted Resection Of Presacral Ganglioneuroma: Operative Technique. 38
29554323 2019
41
Peripheral neuroblastic tumor of the kidney: case report and review of literature. 38
30021475 2018
42
Plexiform Atypical Spitz Tumor With Rosette-Like Giant Cells: A Histologic and Immunohistochemical Study on a Case Suggesting Ganglioneuroblastic Differentiation: Review of the Literature and Considerations on Histogenesis. 38
29771688 2018
43
Cervical Ganglioneuroma in Pediatric Age: A Case Report. 38
30701121 2018
44
Post-treatment maturation of medulloblastoma in children: two cases and a literature review. 38
30270802 2018
45
Robotic excision of complex adrenal mass with retrocaval extension and encasement of renal hilum with renal preservation. 38
29697927 2018
46
Retroperitoneoscopic resection of retroperitoneal nonadrenal ganglioneuromas: our technique and clinical outcomes. 38
29570257 2018
47
MicroRNA profiles in neuroblastoma: Differences in risk and histology groups. 38
29115037 2018
48
The deubiquitinating enzyme UCHL1 is a favorable prognostic marker in neuroblastoma as it promotes neuronal differentiation. 38
30359286 2018
49
Mixed gangliocytoma-pituitary adenoma in the sellar region: a large-scale single-center experience. 38
30109498 2018
50
Multinodular and vacuolating neuronal tumor incidentally discovered in a young man: Conventional and advanced MRI features. 38
30108675 2018

Variations for Gangliocytoma

Cosmic variations for Gangliocytoma:

9 (show all 16)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6986287 ZFHX3 central nervous system,brain,other,ganglioglioma c.10376C>T p.P3459L 16:72787900-72787900 9
2 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 9
3 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 15:90088629-90088629 9
4 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 9
5 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 9
6 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 9
7 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 9
8 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 9
9 COSM327928 H3-3A central nervous system,spinal cord,other,ganglioglioma c.83A>T p.K28M 1:226064434-226064434 9
10 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 9
11 COSM2071554 BRCA2 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 9
12 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 7:140753336-140753336 9
13 COSM6986286 ATM central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 9
14 COSM6986285 central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 9
15 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 9
16 COSM2071553 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 9

Expression for Gangliocytoma

Search GEO for disease gene expression data for Gangliocytoma.

Pathways for Gangliocytoma

Pathways related to Gangliocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 TH SYP RBFOX3
3 11.05 TH SYP

GO Terms for Gangliocytoma

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.5 TH RBFOX3 CRH
2 neuron projection GO:0043005 9.35 TH SYP PTEN GHRH C9orf72
3 terminal bouton GO:0043195 9.33 TH SYP GHRH
4 cytoplasmic side of plasma membrane GO:0009898 9.26 TH PTEN
5 perikaryon GO:0043204 9.02 TH RBFOX3 GHRH CRH C9orf72

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.61 TH PTEN CRH
2 locomotory behavior GO:0007626 9.54 TH PTEN
3 memory GO:0007613 9.52 TH PTEN
4 negative regulation of protein phosphorylation GO:0001933 9.51 PTEN C9orf72
5 learning or memory GO:0007611 9.49 PTEN CRH
6 social behavior GO:0035176 9.48 TH PTEN
7 long-term synaptic potentiation GO:0060291 9.46 PTEN CRH
8 response to activity GO:0014823 9.4 TH PTEN
9 response to zinc ion GO:0010043 9.37 TH PTEN
10 response to immobilization stress GO:0035902 9.32 TH CRH
11 response to corticosterone GO:0051412 9.26 TH CRH
12 synaptic transmission, dopaminergic GO:0001963 9.16 TH CRH
13 response to ethanol GO:0045471 9.13 TH PTEN CRH
14 response to ether GO:0045472 8.62 TH CRH

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 8.62 GHRH CRH

Sources for Gangliocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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