MCID: GNG005
MIFTS: 48

Gangliocytoma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gangliocytoma

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 adrenal cortical adenoma, and has symptoms including seizures An important gene associated with Gangliocytoma is C9orf72 (Chromosome 9 Open Reading Frame 72), and among its related pathways/superpathways are Circadian rythm related genes and Neuroscience. 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 hyperhidrosis and scoliosis

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 : 76 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 200)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 30.2 CRH POMC SYP TH
2 adrenal cortical adenoma 29.9 POMC SYP
3 amenorrhea 29.6 CRH POMC
4 adrenocortical carcinoma, hereditary 29.3 CRH POMC SYP
5 ganglioneuroma 12.6
6 cutaneous ganglioneuroma 12.3
7 cowden disease 11.6
8 multiple endocrine neoplasia, type iib 11.5
9 central hypoventilation syndrome, congenital 11.5
10 multiple endocrine neoplasia, type iia 11.4
11 cowden syndrome 1 11.2
12 appendix adenocarcinoma 11.0
13 adenoma 10.6
14 pituitary adenoma 10.5
15 ganglioneuroblastoma 10.4
16 acromegaly 10.3
17 paraganglioma 10.3
18 scoliosis 10.3
19 neurofibromatosis, type i 10.3
20 ganglioglioma 10.2
21 diarrhea 10.2
22 neurofibrosarcoma 10.2
23 malignant peripheral nerve sheath tumor 10.2
24 hypoganglionosis 10.1 SYP TH
25 supratentorial primitive neuroectodermal tumor 10.1 SYP TH
26 perry syndrome 10.1 C9orf72 TH
27 neurofibroma 10.1
28 mixed type thymoma 10.1 PTEN SYP
29 pancreatic endocrine carcinoma 10.1 POMC SYP
30 olfactory nerve neoplasm 10.1 POMC SYP
31 male reproductive organ benign neoplasm 10.1 POMC SYP
32 prostate small cell carcinoma 10.1 PTEN SYP
33 small cell carcinoma 10.1 PTEN SYP
34 anaplastic ependymoma 10.1 PTEN SYP
35 abducens nerve disease 10.1 POMC SYP
36 cervix small cell carcinoma 10.1 POMC SYP
37 multiple endocrine neoplasia 10.1
38 opiate dependence 10.1 POMC TH
39 cranial nerve malignant neoplasm 10.1 POMC SYP
40 peripheral nervous system neoplasm 10.1 SYP TH
41 supranuclear palsy, progressive, 1 10.1 C9orf72 TH
42 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 POMC SYP
43 partial motor epilepsy 10.1 RBFOX3 SYP
44 adrenal rest tumor 10.1 POMC SYP
45 cauda equina neoplasm 10.1 RBFOX3 SYP
46 cerebral ventricle cancer 10.1 RBFOX3 SYP
47 sex cord-gonadal stromal tumor 10.1 POMC SYP
48 benign ependymoma 10.1 RBFOX3 SYP
49 giant cell glioblastoma 10.1 PTEN SYP
50 endocrine organ benign neoplasm 10.1 POMC SYP

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

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 C9orf72 CRH POMC PTEN SYP TH
2 liver/biliary system MP:0005370 9.46 CRH POMC PTEN TH
3 nervous system MP:0003631 9.43 C9orf72 CRH POMC PTEN SYP TH
4 no phenotypic analysis MP:0003012 8.92 C9orf72 CRH POMC 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 57-22-7, 2068-78-2 5978
3
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
4
Trametinib Approved Phase 2 871700-17-3 11707110
5 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
6 Protein Kinase Inhibitors Phase 2
7 Antimitotic Agents 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
Camptothecin Experimental Phase 1 7689-03-4
11 topoisomerase I inhibitors Phase 1
12 Topoisomerase Inhibitors Phase 1
13 Angiogenesis Inhibitors Phase 1
14 Angiogenesis Modulating Agents Phase 1
15
Octreotide Approved, Investigational 83150-76-9 383414 6400441
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:

41
Cerebellum, Temporal Lobe, Pituitary, Spinal Cord, Brain, Cortex, Lung

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 211)
# Title Authors Year
1
A Case of Suspicious Gangliocytoma with Heterogeneously Distributed Lesions in the Thalamus and Basal Ganglia. ( 29725570 )
2018
2
Autonomic seizures and dAcjA vu in a patient with gangliocytoma of the orbitofrontal cortex. ( 29930233 )
2018
3
Mixed gangliocytoma-pituitary adenoma in the sellar region: a large-scale single-center experience. ( 30109498 )
2018
4
De Novo Tumors of Teratoma: Ganglioneuroma Arising From a Mature Cystic Teratoma of the Ovary. ( 28700440 )
2018
5
Action Semantics at the Bottom of the Brain: Insights From Dysplastic Cerebellar Gangliocytoma. ( 30050490 )
2018
6
Artery first approach for resecting ganglioneuroma encasing superior mesenteric artery. ( 30093776 )
2018
7
Erratum: Adrenal collision tumor (parachordoma and ganglioneuroma): A case report. ( 30101030 )
2018
8
Rare adrenal ganglioneuroma encasing the inferior vena cava. ( 30117649 )
2018
9
Paediatric parapharyngeal ganglioneuroma. ( 30131403 )
2018
10
Retroperitoneal ganglioneuroma combined with scoliosis: A case report and literature review. ( 30212980 )
2018
11
An unusual cause of chronic back pain: retroperitoneal ganglioneuroma. ( 30290734 )
2018
12
Approach to a Posterior Cervico-mediastinal Ganglioneuroma. ( 30365962 )
2018
13
Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). ( 30366139 )
2018
14
Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma. ( 30407243 )
2018
15
Transsphenoidal surgery for mixed pituitary gangliocytoma-adenomas. ( 28887280 )
2017
16
Mixed Gangliocytoma-Pituitary Adenoma: Insights on the Pathogenesis of a Rare Sellar Tumor. ( 28079576 )
2017
17
Transdifferentiation of Neuroendocrine Cells: Gangliocytoma Associated With Two Pituitary Adenomas of Different Lineage in MEN1. ( 28079577 )
2017
18
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
19
Lhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss. ( 28512508 )
2017
20
Gangliocytoma: outcome of a rare silent pituitary tumour. ( 28232376 )
2017
21
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
22
Images in Endocrine Pathology: Unique Composite Adrenal Adenomatoid Tumor, Ganglioneuroma, Myelolipoma, and Cortical Nodular Hyperplasia. ( 28382483 )
2017
23
Endoscopic Endonasal Resection of a Mixed Lesion of Gangliocytoma and Nonfunctioning Pituitary Adenoma. ( 28532920 )
2017
24
Ganglioneuroma with Disseminated Bone Lesions. ( 28221728 )
2017
25
Synchronous ganglioneuroma and schwannoma of the vagal inferior ganglion. ( 28291514 )
2017
26
Excision of a Presacral Ganglioneuroma in a Young Man. ( 30454378 )
2017
27
An unusual case of fatty posterior mediastinal ganglioneuroma. ( 30363300 )
2017
28
A Rare Case of Concomitant Intramedullary Gangliocytoma at the Cervicomedullary Junction in Patient with Neuroendocrine Tumor of Lung. ( 26962423 )
2016
29
Mixed Pituitary Gangliocytoma and Prolactinoma Resistant to the Cabergoline Treatment. ( 27535625 )
2016
30
Gangliocytoma Presenting With Tacrolimus Neurotoxicity in a Renal Transplant Recipient: Case Report. ( 27932167 )
2016
31
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
32
Growth hormone secreting pituitary adenoma with admixed gangliocytoma and ganglioglioma. ( 27068013 )
2016
33
Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. ( 25186217 )
2016
34
Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1-23.3. ( 26463893 )
2016
35
Intermittent Fever, Progressive Weight Gain, and Personality Changes in a Five-Year-Old Girl: Unusual Paraneoplastic Syndrome due to Presacral Ganglioneuroma. ( 27413558 )
2016
36
Parapharyngeal giant ganglioneuroma with multifocal bone involvement in a pediatric female patient. ( 29090884 )
2016
37
Ganglioneuroma of Spinal Nerve Root: A Rare Case Mimicking Herniated Lumbar Disc and Lumbar Radiculopathy. ( 29989721 )
2016
38
Large ganglioneuroma presenting as presacral mass. ( 30460019 )
2016
39
Autopsy case of undiagnosed gangliocytoma in the medulla oblongata complicated with cerebral palsy. ( 26210504 )
2015
40
Sellar gangliocytoma with adrenocorticotropic and prolactin adenoma. ( 26314658 )
2015
41
Pituitary adenoma with gangliocytoma: Report of two cases. ( 25013498 )
2014
42
Infrasellar pituitary gangliocytoma causing Cushing's syndrome. ( 25183169 )
2014
43
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
44
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. ( 24080172 )
2014
45
Endoscopic approach to a collision tumor of growth hormone-secreting adenoma and gangliocytoma in the pituitary gland. ( 25006908 )
2014
46
Ganglioneuroma with leiomyomatosis of the urinary bladder: A rare tumour causing frequent micturition and dysuria. ( 24454600 )
2014
47
Laparoscopic extirpation of giant adrenal ganglioneuroma. ( 24501511 )
2014
48
Adrenal Ganglioneuroma Presenting As Left Renal Mass. ( 29147384 )
2014
49
Acromegaly associated with mixed pituitary adenoma-gangliocytoma and Rathke's cleft cyst. ( 24101276 )
2013
50
Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection. ( 23611590 )
2013

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 COSM99759 IDH2 central nervous system,temporal lobe,other,ganglioglioma c.492G>A p.W164* 15:90088629-90088629 6
2 COSM6986287 ZFHX3 central nervous system,brain,other,ganglioglioma c.10376C>T p.P3459L 16:72787900-72787900 5
3 COSM5702591 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 5
4 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 5
5 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 5
6 COSM28748 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 5
7 COSM28749 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 5
8 COSM28750 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 5
9 COSM327928 H3F3A central nervous system,spinal cord,other,ganglioglioma c.83A>T p.K28M 1:226064434-226064434 5
10 COSM5702574 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 5
11 COSM2071554 BRCA2 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 5
12 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 7:140753336-140753336 5
13 COSM6986286 ATM central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 5
14 COSM6986285 central nervous system,brain,other,ganglioglioma c.6315G>C p.R2105S 11:108317489-108317489 5
15 COSM5702592 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 5
16 COSM2071553 central nervous system,brain,other,ganglioglioma c.9085G>A p.A3029T 13:32379881-32379881 5

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
2 11.46 POMC RBFOX3 SYP TH
3 11.15 SYP TH
4 9.8 CRH POMC

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 9.61 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 long-term synaptic potentiation GO:0060291 9.46 CRH PTEN
7 response to activity GO:0014823 9.4 PTEN TH
8 response to zinc ion GO:0010043 9.37 PTEN TH
9 response to immobilization stress GO:0035902 9.32 CRH TH
10 response to corticosterone GO:0051412 9.26 CRH TH
11 synaptic transmission, dopaminergic GO:0001963 9.16 CRH TH
12 response to ethanol GO:0045471 9.13 CRH PTEN TH
13 response to ether GO:0045472 8.62 CRH TH

Sources for Gangliocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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