MCID: GNG005
MIFTS: 45

Gangliocytoma malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Gangliocytoma

Aliases & Descriptions for Gangliocytoma:

Name: Gangliocytoma 12 50 56 14
Ganglioneuroma 42 69

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2426
MeSH 42 D005729
NCIt 47 C3049 C6934
Orphanet 56 ORPHA251937
ICD10 via Orphanet 34 D36.1
UMLS 69 C0017075

Summaries for Gangliocytoma

NIH Rare Diseases : 50 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 cutaneous ganglioneuroma, and has symptoms including headache, hyperhidrosis and scoliosis. 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 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 : 71 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 113)
id Related Disease Score Top Affiliating Genes
1 ganglioneuroma 12.4
2 cutaneous ganglioneuroma 12.1
3 cowden disease 11.3
4 cowden syndrome 1 11.0
5 adenoma 10.3
6 pituitary adenoma 10.2
7 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.2 SYP TH
8 movement disease 10.2 SYP TH
9 mitochondrial dna depletion syndrome 3 10.1 C9orf72 TH
10 monkeypox 10.1 PTEN SYP
11 early-onset parkinson disease 10.1 CRH SYP
12 wheat allergy 10.1 RBFOX3 SYP
13 pancreatic colloid cystadenoma 10.1 RBFOX3 SYP
14 gliofibroma 10.1 RBFOX3 SYP
15 acromegaly 10.1
16 bronchial mucus gland adenoma 10.0 GFAP PTEN
17 diabetes hypogonadism deafness mental retardation 10.0 GFAP SYP
18 papillary tumor of the pineal region 10.0 GFAP SYP
19 brain stem ependymoma 10.0 GFAP SYP
20 intrahepatic bile duct adenoma 10.0 GFAP SYP
21 pilocytic astrocytoma of cerebellum 10.0 GFAP SYP
22 children's interstitial lung disease 10.0 GFAP SYP
23 cervical benign neoplasm 10.0 GFAP SYP
24 myxopapillary ependymoma 10.0 GFAP SYP
25 microinvasive cervical squamous cell carcinoma 10.0 GFAP SYP
26 childhood embryonal testis carcinoma 10.0 GFAP PTEN
27 clear cell meningioma 10.0 GFAP SYP
28 nephrogenic adenoma of urinary bladder 10.0 GFAP SYP
29 paternal uniparental disomy of chromosome 1 10.0 GFAP SYP
30 cerebral folate receptor alpha deficiency 10.0 GFAP SYP
31 vulvar benign neoplasm 10.0 GFAP SYP
32 adenofibroma 10.0 GFAP SYP
33 pilocytic astrocytoma 10.0 GFAP SYP
34 behcet's syndrome arthropathy 10.0 GFAP SYP
35 blood group incompatibility 10.0 GFAP SYP
36 male reproductive system disease 10.0 GFAP SYP
37 mediastinal granular cell myoblastoma 10.0 GFAP SYP
38 central neurocytoma 10.0 GFAP SYP
39 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.0 GFAP SYP
40 superior vena cava syndrome 10.0 GFAP SYP
41 piussan lenaerts mathieu syndrome 10.0 GFAP SYP
42 pneumothorax 10.0 GFAP SYP
43 brain stem astrocytic neoplasm 10.0 GFAP SYP
44 loeffler endocarditis 10.0 CRH SYP
45 calcific tendinitis 10.0 GFAP SYP
46 auricular cancer 10.0 GFAP SYP
47 arthus reaction 10.0 GFAP SYP
48 childhood central nervous system primitive neuroectodermal neoplasm 10.0 GFAP SYP
49 pancreatic cancer 10.0 GFAP SYP
50 pacinian tumor 10.0 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:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 56 32 Frequent (79-30%) HP:0002315
2 hyperhidrosis 56 32 Occasional (29-5%) HP:0000975
3 scoliosis 56 32 Occasional (29-5%) HP:0002650
4 paresthesia 56 32 Occasional (29-5%) HP:0003401
5 dementia 56 32 Very rare (<4-1%) HP:0000726
6 growth hormone excess 56 32 Occasional (29-5%) HP:0000845
7 pituitary prolactin cell adenoma 56 32 Very rare (<4-1%) HP:0006767
8 pituitary null cell adenoma 56 32 Occasional (29-5%) HP:0011761
9 focal seizures 56 32 Occasional (29-5%) HP:0007359
10 polyphagia 56 32 Very rare (<4-1%) HP:0002591
11 abnormality of the cerebellum 56 32 Very rare (<4-1%) HP:0001317
12 accelerated skeletal maturation 56 32 Occasional (29-5%) HP:0005616
13 spinal cord tumor 56 32 Frequent (79-30%) HP:0010302
14 abnormality of brainstem morphology 56 32 Occasional (29-5%) HP:0002363
15 impotence 56 32 Occasional (29-5%) HP:0000802
16 adrenocorticotropic hormone excess 56 32 Occasional (29-5%) HP:0011749
17 distal muscle weakness 56 32 Occasional (29-5%) HP:0002460
18 ganglioneuroma 56 32 Very frequent (99-80%) HP:0003005
19 syringomyelia 56 32 Very rare (<4-1%) HP:0003396
20 amenorrhea 56 32 Occasional (29-5%) HP:0000141
21 decreased female libido 56 32 Occasional (29-5%) HP:0030018
22 abnormal prolactin level 56 32 Occasional (29-5%) HP:0040086
23 excessive daytime somnolence 32 HP:0001262
24 hemianopsia 56 Frequent (79-30%)
25 neoplasm of the central nervous system 56 Frequent (79-30%)
26 somnolence 56 Very rare (<4-1%)
27 abnormality of the pituitary gland 56 Occasional (29-5%)
28 hemianopia 32 HP:0012377

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma:

44
id 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 GFAP PTEN SYP TH C9orf72 CRH
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)
id 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:


id Name Status NCT ID Phase
1 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1
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:

39
Cerebellum, Temporal Lobe, Pituitary, Spinal Cord, Brain, Medulla Oblongata, Pineal

Publications for Gangliocytoma

Articles related to Gangliocytoma:

(show top 50) (show all 118)
id Title Authors Year
1
Transdifferentiation of Neuroendocrine Cells: Gangliocytoma Associated With Two Pituitary Adenomas of Different Lineage in MEN1. ( 28079577 )
2017
2
Mixed Gangliocytoma-Pituitary Adenoma: Insights on the Pathogenesis of a Rare Sellar Tumor. ( 28079576 )
2017
3
An intrasellar pituitary adenoma-gangliocytoma presenting as acromegaly. ( 28469929 )
2017
4
Mixed Pituitary Gangliocytoma and Prolactinoma Resistant to the Cabergoline Treatment. ( 27535625 )
2016
5
Gangliocytoma Presenting With Tacrolimus Neurotoxicity in a Renal Transplant Recipient: Case Report. ( 27932167 )
2016
6
A Rare Case of Concomitant Intramedullary Gangliocytoma at the Cervicomedullary Junction in Patient with Neuroendocrine Tumor of Lung. ( 26962423 )
2016
7
Growth hormone secreting pituitary adenoma with admixed gangliocytoma and ganglioglioma. ( 27068013 )
2016
8
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. ( 27057227 )
2016
9
Sellar gangliocytoma with adrenocorticotropic and prolactin adenoma. ( 26314658 )
2015
10
Autopsy case of undiagnosed gangliocytoma in the medulla oblongata complicated with cerebral palsy. ( 26210504 )
2015
11
Dysplastic cerebellar gangliocytoma lhermitte-duclos disease imaging and magnetic resonance spectroscopy. ( 25369219 )
2014
12
Infrasellar pituitary gangliocytoma causing Cushing's syndrome. ( 25183169 )
2014
13
Pituitary adenoma with gangliocytoma: Report of two cases. ( 25013498 )
2014
14
A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. ( 24080172 )
2014
15
Endoscopic approach to a collision tumor of growth hormone-secreting adenoma and gangliocytoma in the pituitary gland. ( 25006908 )
2014
16
Acromegaly associated with mixed pituitary adenoma-gangliocytoma and Rathke's cleft cyst. ( 24101276 )
2013
17
Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection. ( 23611590 )
2013
18
Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). ( 23135053 )
2012
19
Acromegaly associated with gangliocytoma. ( 19789938 )
2012
20
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. ( 22499315 )
2012
21
Combined gangliocytoma and non-functioning pituitary adenoma of the pituitary gland. ( 22824692 )
2012
22
Intramedullary gangliocytoma with calcification and multiple intramedullary cysts. ( 22538840 )
2012
23
Gangliocytoma of the medulla oblongata demonstrating high tracer uptake on positron emission tomography. ( 21732072 )
2012
24
Ossifying pituitary adenoma co-existing with astrocytoma and pituitary adenoma associated with gangliocytoma: two unusual conditions. ( 22274987 )
2012
25
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
26
Cytomorphologic spectrum of mixed pituitary adenoma-gangliocytomas: a report of two cases. ( 21053582 )
2010
27
Medulloblastoma with extensive nodularity undergoing post-therapeutic maturation to a gangliocytoma: a case report and literature review. ( 21389751 )
2010
28
Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging. ( 20191074 )
2010
29
Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). ( 19332858 )
2009
30
Collision tumor of anaplastic oligodendroglioma and gangliocytoma: a case report. ( 19856221 )
2009
31
From glioblastoma to gangliocytoma: an unforeseen but welcome shift in biological behavior. ( 19877783 )
2009
32
An intrasellar mixed gangliocytoma-adenoma including ependymal component, and review of the literature. ( 21686419 )
2009
33
Subfrontal gangliocytoma masquerading as olfactory groove meningioma. ( 19234914 )
2009
34
An unusual association of a sellar gangliocytoma with a prolactinoma. ( 17440820 )
2008
35
Cerebellar gangliocytoma presenting with hemifacial spasms: clinical report, literature review and possible mechanisms. ( 18509586 )
2008
36
Gangliocytoma associated with focal cortical dysplasia in a young-adult: a case report. ( 18814115 )
2008
37
Combined gangliocytoma and prolactinoma of the pituitary gland. ( 18651251 )
2008
38
Diffuse cerebral gangliocytoma in an adult with late-onset refractory epilepsy. ( 17990996 )
2007
39
Gangliocytoma of the spinal cord. ( 17460525 )
2007
40
Ectopic recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease): a case report. ( 18095141 )
2007
41
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). ( 16934474 )
2006
42
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma). ( 15670528 )
2005
43
Pathologic quiz case: an unusual cause of acromegaly. Intrasellar gangliocytoma. ( 15737044 )
2005
44
Intramedullary spinal cord gangliocytoma: case report and a review of the literature. ( 15739067 )
2005
45
Acromegaly due to a growth hormone-releasing hormone-secreting intracranial gangliocytoma. ( 15887863 )
2005
46
Radiology case of the month. Gait disturbance. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). ( 15554090 )
2004
47
Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. ( 12836078 )
2003
48
Posterior fossa gangliocytoma with facial nerve invasion: case report. ( 12806511 )
2003
49
Mixed pituitary gangliocytoma/adenoma (prolactinoma) with histogenetic implications. ( 12060349 )
2002
50
Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)? ( 12504212 )
2002

Variations for Gangliocytoma

Cosmic variations for Gangliocytoma:

9
id 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,brainstem,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:

id Super pathways Score Top Affiliating Genes
2 11.43 GFAP RBFOX3 SYP TH
3 11.03 GFAP SYP TH

GO Terms for Gangliocytoma

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

id 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 8.8 CRH RBFOX3 TH

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.63 CRH PTEN TH
2 memory GO:0007613 9.51 PTEN TH
3 social behavior GO:0035176 9.49 PTEN TH
4 learning or memory GO:0007611 9.48 CRH PTEN
5 response to activity GO:0014823 9.43 PTEN TH
6 long-term synaptic potentiation GO:0060291 9.4 CRH PTEN
7 response to zinc ion GO:0010043 9.37 PTEN TH
8 response to immobilization stress GO:0035902 9.32 CRH TH
9 synaptic transmission, dopaminergic GO:0001963 9.26 CRH TH
10 response to corticosterone GO:0051412 9.16 CRH TH
11 response to ethanol GO:0045471 9.13 CRH PTEN TH
12 response to ether GO:0045472 8.62 CRH TH

Sources for Gangliocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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