MCID: GNG005
MIFTS: 50

Gangliocytoma

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Gangliocytoma

Summaries for Gangliocytoma

NIH Rare Diseases : 49 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). Last updated: 5/11/2015

MalaCards based summary : Gangliocytoma, also known as ganglioneuroma, is related to ganglioneuroma and ganglioglioma, and has symptoms including ganglioneuroma, headache and spinal cord tumor. An important gene associated with Gangliocytoma is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Neuroscience and Circadian rythm related genes. The drugs Bevacizumab and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, temporal lobe and pituitary, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 72 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 117)
# Related Disease Score Top Affiliating Genes
1 ganglioneuroma 33.2 GFAP SYP
2 ganglioglioma 29.8 GFAP SYP
3 adult medulloblastoma 29.3 GFAP SYP
4 astrocytoma 29.2 GFAP PTEN SYP
5 oligodendroglioma 29.0 GFAP PTEN SYP
6 meningioma, familial 28.9 GFAP PTEN SYP
7 cutaneous ganglioneuroma 12.2
8 cowden syndrome 1 11.5
9 multiple endocrine neoplasia, type iib 11.5
10 cowden disease 11.4
11 adenoma 10.4
12 pituitary adenoma 10.3
13 hypoganglionosis 10.3 SYP TH
14 supratentorial primitive neuroectodermal tumor 10.2 SYP TH
15 perry syndrome 10.2 C9orf72 TH
16 mixed type thymoma 10.2 PTEN SYP
17 acromegaly 10.1
18 supranuclear palsy, progressive, 1 10.1 C9orf72 TH
19 ectopic cushing syndrome 10.1 CRH SYP
20 peripheral nervous system neoplasm 10.1 SYP TH
21 cauda equina neoplasm 10.1 RBFOX3 SYP
22 sella turcica neoplasm 10.1 RBFOX3 SYP
23 autonomic nervous system neoplasm 10.1 SYP TH
24 tuberculum sellae meningioma 10.1 RBFOX3 SYP
25 pituitary adenoma, prolactin-secreting 10.0
26 cerebritis 10.0
27 small cell carcinoma 10.0 PTEN SYP
28 pineal parenchymal tumor of intermediate differentiation 10.0 RBFOX3 SYP
29 gemistocytic astrocytoma 10.0 GFAP PTEN
30 desmoplastic infantile ganglioglioma 10.0 GFAP SYP
31 extraventricular neurocytoma 10.0 GFAP SYP
32 lung combined type small cell carcinoma 9.9 GFAP SYP
33 cellular ependymoma 9.9 GFAP SYP
34 rhabdoid meningioma 9.9 GFAP SYP
35 gliomatosis cerebri 9.9 GFAP PTEN
36 pilomyxoid astrocytoma 9.9 GFAP SYP
37 chordoid meningioma 9.9 GFAP SYP
38 medulloblastoma 9.9
39 central nervous system primitive neuroectodermal neoplasm 9.9 GFAP SYP
40 subependymal glioma 9.9 GFAP SYP
41 chiari malformation 9.9 GFAP SYP
42 dysembryoplastic neuroepithelial tumor 9.9 GFAP SYP
43 cerebral neuroblastoma 9.9 GFAP SYP
44 benign ependymoma 9.9 GFAP SYP
45 adrenal carcinoma 9.9 CRH SYP
46 astroblastoma 9.9 GFAP SYP
47 pineal gland cancer 9.9 GFAP SYP
48 melanotic neuroectodermal tumor 9.9 GFAP SYP
49 subependymoma 9.9 GFAP SYP
50 angiocentric glioma 9.9 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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 55 31 hallmark (90%) Very frequent (99-80%) HP:0003005
2 headache 55 31 frequent (33%) Frequent (79-30%) HP:0002315
3 spinal cord tumor 55 31 frequent (33%) Frequent (79-30%) HP:0010302
4 amenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000141
5 impotence 55 31 occasional (7.5%) Occasional (29-5%) HP:0000802
6 growth hormone excess 55 31 occasional (7.5%) Occasional (29-5%) HP:0000845
7 hyperhidrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000975
8 abnormality of brainstem morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0002363
9 distal muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0002460
10 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 paresthesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003401
12 accelerated skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0005616
13 focal seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0007359
14 adrenocorticotropic hormone excess 55 31 occasional (7.5%) Occasional (29-5%) HP:0011749
15 pituitary null cell adenoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0011761
16 decreased female libido 55 31 occasional (7.5%) Occasional (29-5%) HP:0030018
17 abnormal prolactin level 55 31 occasional (7.5%) Occasional (29-5%) HP:0040086
18 dementia 55 31 very rare (1%) Very rare (<4-1%) HP:0000726
19 excessive daytime somnolence 55 31 very rare (1%) Very rare (<4-1%) HP:0001262
20 abnormality of the cerebellum 55 31 very rare (1%) Very rare (<4-1%) HP:0001317
21 polyphagia 55 31 very rare (1%) Very rare (<4-1%) HP:0002591
22 syringomyelia 55 31 very rare (1%) Very rare (<4-1%) HP:0003396
23 pituitary prolactin cell adenoma 55 31 very rare (1%) Very rare (<4-1%) HP:0006767
24 hemianopsia 55 Frequent (79-30%)
25 neoplasm of the central nervous system 55 Frequent (79-30%)
26 abnormality of the pituitary gland 55 Occasional (29-5%)
27 hemianopia 31 frequent (33%) HP:0012377

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma:

43
# 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1 216974-75-3
2
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
3
Camptothecin Experimental Phase 1 7689-03-4
4 Angiogenesis Inhibitors Phase 1
5 Angiogenesis Modulating Agents Phase 1
6 Antineoplastic Agents, Phytogenic Phase 1
7 topoisomerase I inhibitors Phase 1
8 Topoisomerase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
2 Prospective Study Registry of Peripheral Neuroblastic Tumours Presenting With Spinal Canal Involvement (SCI) Recruiting NCT02559804
3 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:

38
Cerebellum, Temporal Lobe, Pituitary, Spinal Cord, Brain, Medulla Oblongata, Pineal

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 123)
# Title Authors Year
1
Transsphenoidal surgery for mixed pituitary gangliocytoma-adenomas. ( 28887280 )
2017
2
Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. ( 28479525 )
2017
3
Lhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss. ( 28512508 )
2017
4
Transdifferentiation of Neuroendocrine Cells: Gangliocytoma Associated With Two Pituitary Adenomas of Different Lineage in MEN1. ( 28079577 )
2017
5
Endoscopic Endonasal Resection of a Mixed Lesion of Gangliocytoma and Nonfunctioning Pituitary Adenoma. ( 28532920 )
2017
6
Gangliocytoma: outcome of a rare silent pituitary tumour. ( 28232376 )
2017
7
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
8
Mixed Gangliocytoma-Pituitary Adenoma: Insights on the Pathogenesis of a Rare Sellar Tumor. ( 28079576 )
2017
9
Gangliocytoma Presenting With Tacrolimus Neurotoxicity in a Renal Transplant Recipient: Case Report. ( 27932167 )
2016
10
Growth hormone secreting pituitary adenoma with admixed gangliocytoma and ganglioglioma. ( 27068013 )
2016
11
A Rare Case of Concomitant Intramedullary Gangliocytoma at the Cervicomedullary Junction in Patient with Neuroendocrine Tumor of Lung. ( 26962423 )
2016
12
Mixed Pituitary Gangliocytoma and Prolactinoma Resistant to the Cabergoline Treatment. ( 27535625 )
2016
13
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
14
Autopsy case of undiagnosed gangliocytoma in the medulla oblongata complicated with cerebral palsy. ( 26210504 )
2015
15
Sellar gangliocytoma with adrenocorticotropic and prolactin adenoma. ( 26314658 )
2015
16
Infrasellar pituitary gangliocytoma causing Cushing's syndrome. ( 25183169 )
2014
17
Pituitary adenoma with gangliocytoma: Report of two cases. ( 25013498 )
2014
18
Endoscopic approach to a collision tumor of growth hormone-secreting adenoma and gangliocytoma in the pituitary gland. ( 25006908 )
2014
19
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. ( 24080172 )
2014
20
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
21
Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection. ( 23611590 )
2013
22
Acromegaly associated with mixed pituitary adenoma-gangliocytoma and Rathke's cleft cyst. ( 24101276 )
2013
23
Combined gangliocytoma and non-functioning pituitary adenoma of the pituitary gland. ( 22824692 )
2012
24
Intramedullary gangliocytoma with calcification and multiple intramedullary cysts. ( 22538840 )
2012
25
Gangliocytoma of the medulla oblongata demonstrating high tracer uptake on positron emission tomography. ( 21732072 )
2012
26
Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). ( 23135053 )
2012
27
Acromegaly associated with gangliocytoma. ( 19789938 )
2012
28
Ossifying pituitary adenoma co-existing with astrocytoma and pituitary adenoma associated with gangliocytoma: two unusual conditions. ( 22274987 )
2012
29
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. ( 22499315 )
2012
30
Direct correlation between the facial nerve nucleus and hemifacial seizures associated with a gangliocytoma of the floor of the fourth ventricle: a case report. ( 22050334 )
2011
31
Medulloblastoma with extensive nodularity undergoing post-therapeutic maturation to a gangliocytoma: a case report and literature review. ( 21389751 )
2010
32
Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging. ( 20191074 )
2010
33
Cytomorphologic spectrum of mixed pituitary adenoma-gangliocytomas: a report of two cases. ( 21053582 )
2010
34
Collision tumor of anaplastic oligodendroglioma and gangliocytoma: a case report. ( 19856221 )
2009
35
Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). ( 19332858 )
2009
36
An intrasellar mixed gangliocytoma-adenoma including ependymal component, and review of the literature. ( 21686419 )
2009
37
Subfrontal gangliocytoma masquerading as olfactory groove meningioma. ( 19234914 )
2009
38
From glioblastoma to gangliocytoma: an unforeseen but welcome shift in biological behavior. ( 19877783 )
2009
39
Combined gangliocytoma and prolactinoma of the pituitary gland. ( 18651251 )
2008
40
An unusual association of a sellar gangliocytoma with a prolactinoma. ( 17440820 )
2008
41
Gangliocytoma associated with focal cortical dysplasia in a young-adult: a case report. ( 18814115 )
2008
42
Cerebellar gangliocytoma presenting with hemifacial spasms: clinical report, literature review and possible mechanisms. ( 18509586 )
2008
43
Ectopic recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease): a case report. ( 18095141 )
2007
44
Diffuse cerebral gangliocytoma in an adult with late-onset refractory epilepsy. ( 17990996 )
2007
45
Gangliocytoma of the spinal cord. ( 17460525 )
2007
46
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 16934474 )
2006
47
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma). ( 15670528 )
2005
48
Intramedullary spinal cord gangliocytoma: case report and a review of the literature. ( 15739067 )
2005
49
Acromegaly due to a growth hormone-releasing hormone-secreting intracranial gangliocytoma. ( 15887863 )
2005
50
Pathologic quiz case: an unusual cause of acromegaly. Intrasellar gangliocytoma. ( 15737044 )
2005

Variations for Gangliocytoma

Cosmic variations for Gangliocytoma:

9
# 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* 5
2 COSM28746 IDH1 central nervous system,brain,other,ganglioglioma c.395G>A p.R132H 4
3 COSM327928 H3F3A central nervous system,spinal cord,other,ganglioglioma c.83A>T p.K28M 4
4 COSM476 BRAF central nervous system,brain,other,ganglioglioma c.1799T>A p.V600E 4

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 9.43 CRH RBFOX3 TH
2 neuron projection GO:0043005 9.33 PTEN SYP TH
3 terminal bouton GO:0043195 9.32 SYP TH
4 cytoplasmic side of plasma membrane GO:0009898 8.96 PTEN 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 negative regulation of protein phosphorylation GO:0001933 9.52 C9orf72 PTEN
3 memory GO:0007613 9.51 PTEN TH
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 synaptic transmission, dopaminergic GO:0001963 9.32 CRH TH
11 response to corticosterone GO:0051412 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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