MCID: GNG005
MIFTS: 52

Gangliocytoma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gangliocytoma

Summaries for Gangliocytoma

NIH Rare Diseases : 54 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 ganglioneuroma and ganglioglioma, 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 Dabrafenib and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, temporal lobe and pituitary, 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 : 77 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 211)
# Related Disease Score Top Affiliating Genes
1 ganglioneuroma 34.1 GFAP SYP
2 ganglioglioma 30.5 GFAP SYP
3 pheochromocytoma 30.3 CRH SYP TH
4 cystic teratoma 30.0 GFAP SYP
5 teratoma 30.0 GFAP SYP
6 ependymoma 29.9 GFAP SYP
7 medulloblastoma 29.7 GFAP PTEN SYP
8 oligodendroglioma 29.7 GFAP PTEN SYP
9 cutaneous ganglioneuroma 12.4
10 cowden syndrome 11.6
11 multiple endocrine neoplasia, type iib 11.5
12 central hypoventilation syndrome, congenital 11.5
13 multiple endocrine neoplasia, type iia 11.4
14 cowden syndrome 1 11.3
15 appendix adenocarcinoma 11.1
16 adenoma 10.6
17 pituitary adenoma 10.5
18 acromegaly 10.4
19 ganglioneuroblastoma 10.4
20 paraganglioma 10.3
21 neurofibromatosis, type i 10.3
22 neurofibromatosis, type iv, of riccardi 10.3
23 scoliosis 10.3
24 hypoganglionosis 10.2 SYP TH
25 supratentorial primitive neuroectodermal tumor 10.2 SYP TH
26 diarrhea 10.2
27 neurofibrosarcoma 10.2
28 malignant peripheral nerve sheath tumor 10.2
29 desmoplastic infantile ganglioglioma 10.2 GFAP SYP
30 extraventricular neurocytoma 10.2 GFAP SYP
31 lung combined type small cell carcinoma 10.2 GFAP SYP
32 small cell carcinoma 10.2 PTEN SYP
33 cellular ependymoma 10.2 GFAP SYP
34 mixed type thymoma 10.2 PTEN SYP
35 chordoid meningioma 10.2 GFAP SYP
36 central nervous system primitive neuroectodermal neoplasm 10.2 GFAP SYP
37 perry syndrome 10.2 C9orf72 TH
38 clear cell ependymoma 10.1 GFAP SYP
39 chiari malformation 10.1 GFAP SYP
40 dysembryoplastic neuroepithelial tumor 10.1 GFAP SYP
41 cerebral neuroblastoma 10.1 GFAP SYP
42 neurofibroma 10.1
43 subependymal glioma 10.1 GFAP SYP
44 astroblastoma 10.1 GFAP SYP
45 pineal gland cancer 10.1 GFAP SYP
46 melanotic neuroectodermal tumor 10.1 GFAP SYP
47 angiocentric glioma 10.1 GFAP SYP
48 obstructive hydrocephalus 10.1 GFAP SYP
49 medulloepithelioma 10.1 GFAP SYP
50 pineocytoma 10.1 GFAP SYP

Graphical network of the top 20 diseases related to Gangliocytoma:



Diseases related to Gangliocytoma

Symptoms & Phenotypes for Gangliocytoma

Human phenotypes related to Gangliocytoma:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0003005
2 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
3 spinal cord tumor 60 33 frequent (33%) Frequent (79-30%) HP:0010302
4 hemianopia 33 frequent (33%) HP:0012377
5 hyperhidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000975
6 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
7 paresthesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003401
8 growth hormone excess 60 33 occasional (7.5%) Occasional (29-5%) HP:0000845
9 pituitary null cell adenoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0011761
10 accelerated skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005616
11 abnormality of brainstem morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002363
12 impotence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000802
13 adrenocorticotropic hormone excess 60 33 occasional (7.5%) Occasional (29-5%) HP:0011749
14 distal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002460
15 amenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000141
16 decreased female libido 60 33 occasional (7.5%) Occasional (29-5%) HP:0030018
17 abnormal prolactin level 60 33 occasional (7.5%) Occasional (29-5%) HP:0040086
18 focal-onset seizure 33 occasional (7.5%) HP:0007359
19 dementia 60 33 very rare (1%) Very rare (<4-1%) HP:0000726
20 pituitary prolactin cell adenoma 60 33 very rare (1%) Very rare (<4-1%) HP:0006767
21 polyphagia 60 33 very rare (1%) Very rare (<4-1%) HP:0002591
22 excessive daytime somnolence 60 33 very rare (1%) Very rare (<4-1%) HP:0001262
23 syringomyelia 60 33 very rare (1%) Very rare (<4-1%) HP:0003396
24 abnormal cerebellum morphology 33 very rare (1%) HP:0001317
25 hemianopsia 60 Frequent (79-30%)
26 neoplasm of the central nervous system 60 Frequent (79-30%)
27 focal seizures 60 Occasional (29-5%)
28 abnormality of the cerebellum 60 Very rare (<4-1%)
29 abnormality of the pituitary gland 60 Occasional (29-5%)

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 C9orf72 CRH GFAP PTEN SYP TH
2 nervous system MP:0003631 9.43 C9orf72 CRH GFAP PTEN SYP TH
3 normal MP:0002873 9.02 CRH GFAP PTEN SYP TH

Drugs & Therapeutics for Gangliocytoma

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
3
Carboplatin Approved Phase 2 41575-94-4 38904 10339178 498142
4
Trametinib Approved Phase 2 871700-17-3 11707110
5 Protein Kinase Inhibitors Phase 2
6 Antimitotic Agents Phase 2
7 Antineoplastic Agents, Phytogenic Phase 2
8
Irinotecan Approved, Investigational Phase 1 100286-90-6, 97682-44-5 60838
9
Bevacizumab Approved, Investigational Phase 1 216974-75-3
10 topoisomerase I inhibitors Phase 1
11 Topoisomerase Inhibitors Phase 1
12 Antineoplastic Agents, Immunological Phase 1
13 Angiogenesis Inhibitors Phase 1
14 Angiogenesis Modulating Agents Phase 1
15
Octreotide Approved, Investigational 83150-76-9 6400441 383414
16 Edotreotide
17 Fluorodeoxyglucose F18
18 Antineoplastic Agents, Hormonal
19 Gastrointestinal Agents
20 Radiopharmaceuticals

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
2 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
3 Prospective Study Registry of Peripheral Neuroblastic Tumours Presenting With Spinal Canal Involvement (SCI) Unknown status NCT02559804
4 DOTATOC PET/CT for Imaging NET Patients Recruiting NCT03583528
5 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020

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:

42
Cerebellum, Temporal Lobe, Pituitary, Spinal Cord, Brain, Bone, Cortex

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 183)
# Title Authors Year
1
Laparoscopic Extirpation of Adrenal Gland Ganglioneuroma Incidentally Diagnosed During Evaluation for Patchy Alopecia Areata in an Adolescent Boy. ( 30897574 )
2019
2
Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review. ( 30905649 )
2019
3
Cutaneous ganglioneuroma: A case report and discussion of the literature. ( 30632184 )
2019
4
Laparoscopic adrenalectomy for ganglioneuroma presenting as an adrenal incidentaloma. ( 30618428 )
2019
5
Parapharyngeal Ganglioneuroma Detected by 18F-FDG PET/CT in a Patient With Hodgkin Lymphoma. ( 30672755 )
2019
6
Retroperitoneoscopic resection of a T11-L2 right-sided ganglioneuroma. ( 30879753 )
2019
7
A Case of Suspicious Gangliocytoma with Heterogeneously Distributed Lesions in the Thalamus and Basal Ganglia. ( 29725570 )
2018
8
Autonomic seizures and dAcjA vu in a patient with gangliocytoma of the orbitofrontal cortex. ( 29930233 )
2018
9
Mixed gangliocytoma-pituitary adenoma in the sellar region: a large-scale single-center experience. ( 30109498 )
2018
10
Action Semantics at the Bottom of the Brain: Insights From Dysplastic Cerebellar Gangliocytoma. ( 30050490 )
2018
11
Artery first approach for resecting ganglioneuroma encasing superior mesenteric artery. ( 30093776 )
2018
12
Erratum: Adrenal collision tumor (parachordoma and ganglioneuroma): A case report. ( 30101030 )
2018
13
Rare adrenal ganglioneuroma encasing the inferior vena cava. ( 30117649 )
2018
14
Paediatric parapharyngeal ganglioneuroma. ( 30131403 )
2018
15
Retroperitoneal ganglioneuroma combined with scoliosis: A case report and literature review. ( 30212980 )
2018
16
An unusual cause of chronic back pain: retroperitoneal ganglioneuroma. ( 30290734 )
2018
17
Approach to a Posterior Cervico-mediastinal Ganglioneuroma. ( 30365962 )
2018
18
Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). ( 30366139 )
2018
19
Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma. ( 30407243 )
2018
20
Laparoscopic Excision of an Adrenal Ganglioneuroma Presented as an Incindentaloma of the Retro Peritoneum. ( 30622759 )
2018
21
Cervical Ganglioneuroma in Pediatric Age: A Case Report. ( 30701121 )
2018
22
Transsphenoidal surgery for mixed pituitary gangliocytoma-adenomas. ( 28887280 )
2017
23
Mixed Gangliocytoma-Pituitary Adenoma: Insights on the Pathogenesis of a Rare Sellar Tumor. ( 28079576 )
2017
24
Transdifferentiation of Neuroendocrine Cells: Gangliocytoma Associated With Two Pituitary Adenomas of Different Lineage in MEN1. ( 28079577 )
2017
25
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
26
Lhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss. ( 28512508 )
2017
27
Gangliocytoma: outcome of a rare silent pituitary tumour. ( 28232376 )
2017
28
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
29
Endoscopic Endonasal Resection of a Mixed Lesion of Gangliocytoma and Nonfunctioning Pituitary Adenoma. ( 28532920 )
2017
30
Ganglioneuroma with Disseminated Bone Lesions. ( 28221728 )
2017
31
Synchronous ganglioneuroma and schwannoma of the vagal inferior ganglion. ( 28291514 )
2017
32
An unusual case of fatty posterior mediastinal ganglioneuroma. ( 30363300 )
2017
33
A Rare Case of Concomitant Intramedullary Gangliocytoma at the Cervicomedullary Junction in Patient with Neuroendocrine Tumor of Lung. ( 26962423 )
2016
34
Mixed Pituitary Gangliocytoma and Prolactinoma Resistant to the Cabergoline Treatment. ( 27535625 )
2016
35
Gangliocytoma Presenting With Tacrolimus Neurotoxicity in a Renal Transplant Recipient: Case Report. ( 27932167 )
2016
36
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
37
Growth hormone secreting pituitary adenoma with admixed gangliocytoma and ganglioglioma. ( 27068013 )
2016
38
Parapharyngeal giant ganglioneuroma with multifocal bone involvement in a pediatric female patient. ( 29090884 )
2016
39
Ganglioneuroma of Spinal Nerve Root: A Rare Case Mimicking Herniated Lumbar Disc and Lumbar Radiculopathy. ( 29989721 )
2016
40
Large ganglioneuroma presenting as presacral mass. ( 30460019 )
2016
41
Autopsy case of undiagnosed gangliocytoma in the medulla oblongata complicated with cerebral palsy. ( 26210504 )
2015
42
Sellar gangliocytoma with adrenocorticotropic and prolactin adenoma. ( 26314658 )
2015
43
Pituitary adenoma with gangliocytoma: Report of two cases. ( 25013498 )
2014
44
Infrasellar pituitary gangliocytoma causing Cushing's syndrome. ( 25183169 )
2014
45
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
46
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. ( 24080172 )
2014
47
Endoscopic approach to a collision tumor of growth hormone-secreting adenoma and gangliocytoma in the pituitary gland. ( 25006908 )
2014
48
Ganglioneuroma with leiomyomatosis of the urinary bladder: A rare tumour causing frequent micturition and dysuria. ( 24454600 )
2014
49
Laparoscopic extirpation of giant adrenal ganglioneuroma. ( 24501511 )
2014
50
Adrenal Ganglioneuroma Presenting As Left Renal Mass. ( 29147384 )
2014

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 0
2 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 0
3 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 15:90088629-90088629 0
4 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 0
5 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 0
6 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 0
7 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 0
8 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 0
9 COSM327928 H3F3A central nervous system,spinal cord,other,ganglioglioma c.83A>T p.K28M 1:226064434-226064434 0
10 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 0
11 COSM2071554 BRCA2 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 0
12 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 7:140753336-140753336 0
13 COSM6986286 ATM central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 0
14 COSM6986285 central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 0
15 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 0
16 COSM2071553 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 0

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 11.79 GFAP RBFOX3 SYP TH
3 10.7 GFAP SYP TH

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 CRH RBFOX3 TH
2 cytoplasmic side of plasma membrane GO:0009898 9.26 PTEN TH
3 neuron projection GO:0043005 9.26 C9orf72 PTEN SYP TH
4 terminal bouton GO:0043195 9.16 SYP TH
5 perikaryon GO:0043204 8.92 C9orf72 CRH RBFOX3 TH

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.63 CRH PTEN TH
2 memory GO:0007613 9.52 PTEN TH
3 negative regulation of protein phosphorylation GO:0001933 9.51 C9orf72 PTEN
4 learning or memory GO:0007611 9.49 CRH PTEN
5 social behavior GO:0035176 9.48 PTEN TH
6 response to activity GO:0014823 9.43 PTEN TH
7 response to zinc ion GO:0010043 9.4 PTEN TH
8 response to immobilization stress GO:0035902 9.37 CRH TH
9 response to ethanol GO:0045471 9.33 CRH PTEN TH
10 response to corticosterone GO:0051412 9.32 CRH TH
11 synaptic transmission, dopaminergic GO:0001963 9.26 CRH TH
12 response to ether GO:0045472 8.96 CRH TH
13 long-term synaptic potentiation GO:0060291 8.8 CRH GFAP PTEN

Sources for Gangliocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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