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 Carboplatin and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include pituitary, cerebellum 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 : 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 225)
# 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 central neurocytoma 30.0 GFAP SYP
7 ependymoma 29.9 GFAP SYP
8 cerebellopontine angle tumor 29.8 GFAP SYP
9 medulloblastoma 29.7 GFAP PTEN SYP
10 oligodendroglioma 29.7 GFAP PTEN SYP
11 meningioma, familial 29.6 GFAP PTEN SYP
12 benign ependymoma 29.4 GFAP RBFOX3 SYP
13 cutaneous ganglioneuroma 12.4
14 cowden syndrome 11.7
15 multiple endocrine neoplasia, type iib 11.6
16 central hypoventilation syndrome, congenital 11.6
17 neuroblastoma 1 11.4
18 multiple endocrine neoplasia, type iia 11.4
19 cowden syndrome 1 11.3
20 appendix adenocarcinoma 11.1
21 adenoma 10.6
22 pituitary adenoma 10.5
23 acromegaly 10.4
24 adrenal gland pheochromocytoma 10.4
25 neurofibromatosis, type iv, of riccardi 10.4
26 ganglioneuroblastoma 10.4
27 paraganglioma 10.4
28 neurofibromatosis, type i 10.3
29 scoliosis 10.3
30 pituitary adenoma, prolactin-secreting 10.2
31 hypoganglionosis 10.2 SYP TH
32 diarrhea 10.2
33 supratentorial primitive neuroectodermal tumor 10.2 SYP TH
34 neurofibrosarcoma 10.2
35 malignant peripheral nerve sheath tumor 10.2
36 neurofibroma 10.2
37 desmoplastic infantile ganglioglioma 10.2 GFAP SYP
38 extraventricular neurocytoma 10.2 GFAP SYP
39 lung combined type small cell carcinoma 10.2 GFAP SYP
40 small cell carcinoma 10.2 PTEN SYP
41 cellular ependymoma 10.2 GFAP SYP
42 mixed type thymoma 10.2 PTEN SYP
43 chordoid meningioma 10.2 GFAP SYP
44 central nervous system primitive neuroectodermal neoplasm 10.2 GFAP SYP
45 perry syndrome 10.2 C9orf72 TH
46 clear cell ependymoma 10.2 GFAP SYP
47 chiari malformation 10.2 GFAP SYP
48 dysembryoplastic neuroepithelial tumor 10.1 GFAP SYP
49 cerebral neuroblastoma 10.1 GFAP SYP
50 subependymal glioma 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 28)
# 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 focal-onset seizure 60 33 occasional (7.5%) Occasional (29-5%) HP:0007359
9 growth hormone excess 60 33 occasional (7.5%) Occasional (29-5%) HP:0000845
10 pituitary null cell adenoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0011761
11 accelerated skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005616
12 abnormality of brainstem morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002363
13 impotence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000802
14 adrenocorticotropic hormone excess 60 33 occasional (7.5%) Occasional (29-5%) HP:0011749
15 distal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002460
16 amenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000141
17 decreased female libido 60 33 occasional (7.5%) Occasional (29-5%) HP:0030018
18 abnormal prolactin level 60 33 occasional (7.5%) Occasional (29-5%) HP:0040086
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 abnormality of the cerebellum 60 Very rare (<4-1%)
28 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
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
2
Trametinib Approved Phase 2 871700-17-3 11707110
3
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
4
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
5 Protein Kinase Inhibitors Phase 2
6 Antineoplastic Agents, Phytogenic Phase 2
7 Antimitotic Agents Phase 2
8
Bevacizumab Approved, Investigational Phase 1 216974-75-3
9
Irinotecan Approved, Investigational Phase 1 100286-90-6, 97682-44-5 60838
10 Topoisomerase Inhibitors Phase 1
11 Angiogenesis Inhibitors Phase 1
12 topoisomerase I inhibitors Phase 1
13 Angiogenesis Modulating Agents Phase 1
14 Antineoplastic Agents, Immunological Phase 1
15
Octreotide Approved, Investigational 83150-76-9 6400441 383414
16 Radiopharmaceuticals
17 Gastrointestinal Agents
18 Antineoplastic Agents, Hormonal
19 Fluorodeoxyglucose F18
20 Edotreotide

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

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 791)
# 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
Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). ( 30366139 )
2019
5
Updated Imaging Features of Dysplastic Cerebellar Gangliocytoma. ( 30407243 )
2019
6
Intraoperative Nerve Monitoring in Robotic-Assisted Resection Of Presacral Ganglioneuroma: Operative Technique. ( 29554323 )
2019
7
Approach to a Posterior Cervicomediastinal Ganglioneuroma. ( 30365962 )
2019
8
Laparoscopic adrenalectomy for ganglioneuroma presenting as an adrenal incidentaloma. ( 30618428 )
2019
9
Parapharyngeal Ganglioneuroma Detected by 18F-FDG PET/CT in a Patient With Hodgkin Lymphoma. ( 30672755 )
2019
10
Retroperitoneoscopic resection of a T11-L2 right-sided ganglioneuroma. ( 30879753 )
2019
11
Cervical ganglioneuroma: A case report and review of the literature. ( 30985715 )
2019
12
Pathological thoracic spine scoliosis due to ganglioneuroma. ( 31033504 )
2019
13
Laparoscopic celiac plexus ganglioneuroma resection: A video case report. ( 31057703 )
2019
14
Lumbar ganglioneuroma from the paravertebral body presenting in continuity between intra- and extradural spaces: a case report. ( 31102769 )
2019
15
Mixed gangliocytoma-pituitary adenoma in the sellar region: a large-scale single-center experience. ( 30109498 )
2018
16
Primary cutaneous ganglioneuroma: anatomico-clinical study of 4 cases with focus on Merkel cells. ( 29569258 )
2018
17
De Novo Tumors of Teratoma: Ganglioneuroma Arising From a Mature Cystic Teratoma of the Ovary. ( 28700440 )
2018
18
A Case of Suspicious Gangliocytoma with Heterogeneously Distributed Lesions in the Thalamus and Basal Ganglia. ( 29725570 )
2018
19
Autonomic seizures and déjà vu in a patient with gangliocytoma of the orbitofrontal cortex. ( 29930233 )
2018
20
Action Semantics at the Bottom of the Brain: Insights From Dysplastic Cerebellar Gangliocytoma. ( 30050490 )
2018
21
Every polyp is not an adenoma: Ganglioneuroma of the colon. ( 29198570 )
2018
22
Characteristics and management of ganglioneuroma and ganglioneuroblastoma-intermixed in children and adolescents. ( 29369484 )
2018
23
What Do We Need to Know About Colonic Polypoid Ganglioneuroma? A Case Report and A Comprehensive Review. ( 27888390 )
2018
24
Case report: Robot-assisted laparoscopic excision of giant ganglioneuroma of the adrenal gland. ( 28748502 )
2018
25
Cervical ganglioneuroma: clinical and radiological features of a rare tumour. ( 29326343 )
2018
26
Simultaneous Presentation of Wilms' Tumor and Contralateral Ganglioneuroma in a Child: Case Report and Literature Review. ( 29334535 )
2018
27
Lingual ganglioneuroma in a dog. ( 29367496 )
2018
28
Adrenal Ganglioneuroma: Features and Outcomes of 42 Cases in a Chinese Population. ( 29383425 )
2018
29
Massive thoracic ganglioneuroma with significant mass effect on left hemithorax. ( 29437731 )
2018
30
A rare cause of chronic ataxia in childhood: ganglioneuroma. ( 29532434 )
2018
31
Extensive spinal extradural ganglioneuroma of the lumbar spine: mimicking lymphoma. ( 29594468 )
2018
32
Left adrenal ganglioneuroma: Report of a new case. ( 29631229 )
2018
33
Giant Thoracolumbar Dumbbell Ganglioneuroma. ( 29698954 )
2018
34
Adrenal collision tumor (parachordoma and ganglioneuroma): A case report. ( 29844903 )
2018
35
Intradural Ganglioneuroma Mimicking Lumbar Disc Herniation: Case Report. ( 29886296 )
2018
36
Magnetic resonance neurography in the diagnosis of a retroperitoneal ganglioneuroma: Case report and literature review. ( 29904477 )
2018
37
Surgical approach to adrenal ganglioneuroma: Case report and literature review. ( 29974732 )
2018
38
Artery first approach for resecting ganglioneuroma encasing superior mesenteric artery. ( 30093776 )
2018
39
Erratum: Adrenal collision tumor (parachordoma and ganglioneuroma): A case report. ( 30101030 )
2018
40
Rare adrenal ganglioneuroma encasing the inferior vena cava. ( 30117649 )
2018
41
Paediatric parapharyngeal ganglioneuroma. ( 30131403 )
2018
42
Retroperitoneal ganglioneuroma combined with scoliosis: A case report and literature review. ( 30212980 )
2018
43
An unusual cause of chronic back pain: retroperitoneal ganglioneuroma. ( 30290734 )
2018
44
Laparoscopic Excision of an Adrenal Ganglioneuroma Presented as an Incindentaloma of the Retro Peritoneum. ( 30622759 )
2018
45
Cervical Ganglioneuroma in Pediatric Age: A Case Report. ( 30701121 )
2018
46
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
47
Endoscopic Endonasal Resection of a Mixed Lesion of Gangliocytoma and Nonfunctioning Pituitary Adenoma. ( 28532920 )
2017
48
Mixed Gangliocytoma-Pituitary Adenoma: Insights on the Pathogenesis of a Rare Sellar Tumor. ( 28079576 )
2017
49
Trigeminal Ganglioneuroma: A Rare Case of Trigeminal Neuralgia Caused by Cerebellopontine Angle Tumor. ( 28043883 )
2017
50
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017

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 COSM28746 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 0
5 COSM28747 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 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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