MCID: GNG005
MIFTS: 45

Gangliocytoma malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Gangliocytoma

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Aliases & Descriptions for Gangliocytoma:

Name: Gangliocytoma 11 48 54 13
 
Ganglioneuroma 39 68

Classifications:



External Ids:

Disease Ontology11 DOID:2426
MeSH39 D005729
NCIt45 C3049, C6934
Orphanet54 ORPHA251937
ICD10 via Orphanet31 D36.1

Summaries for Gangliocytoma

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NIH Rare Diseases:48 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 seizures, Array and Array. An important gene associated with Gangliocytoma is C9orf72 (Chromosome 9 Open Reading Frame 72), and among its related pathways are Circadian rythm related genes and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include cerebellum, temporal lobe and pituitary, and related mouse 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

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Diseases related to Gangliocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1ganglioneuroma12.4
2cutaneous ganglioneuroma12.1
3cowden disease11.3
4cowden syndrome 111.0
5adenoma10.3
6pituitary adenoma10.2
7hypoparathyroidism-intellectual disability-dysmorphism syndrome10.2SYP, TH
8movement disease10.2SYP, TH
9mitochondrial dna depletion syndrome 310.1C9orf72, TH
10monkeypox10.1PTEN, SYP
11early-onset parkinson disease10.1CRH, SYP
12wheat allergy10.1RBFOX3, SYP
13pancreatic colloid cystadenoma10.1RBFOX3, SYP
14gliofibroma10.1RBFOX3, SYP
15acromegaly10.1
16bronchial mucus gland adenoma10.0GFAP, PTEN
17diabetes hypogonadism deafness mental retardation10.0GFAP, SYP
18papillary tumor of the pineal region10.0GFAP, SYP
19brain stem ependymoma10.0GFAP, SYP
20intrahepatic bile duct adenoma10.0GFAP, SYP
21pilocytic astrocytoma of cerebellum10.0GFAP, SYP
22children's interstitial lung disease10.0GFAP, SYP
23cervical benign neoplasm10.0GFAP, SYP
24myxopapillary ependymoma10.0GFAP, SYP
25microinvasive cervical squamous cell carcinoma10.0GFAP, SYP
26childhood embryonal testis carcinoma10.0GFAP, PTEN
27clear cell meningioma10.0GFAP, SYP
28nephrogenic adenoma of urinary bladder10.0GFAP, SYP
29paternal uniparental disomy of chromosome 110.0GFAP, SYP
30cerebral folate receptor alpha deficiency10.0GFAP, SYP
31vulvar benign neoplasm10.0GFAP, SYP
32adenofibroma10.0GFAP, SYP
33pilocytic astrocytoma10.0GFAP, SYP
34behcet's syndrome arthropathy10.0GFAP, SYP
35blood group incompatibility10.0GFAP, SYP
36male reproductive system disease10.0GFAP, SYP
37mediastinal granular cell myoblastoma10.0GFAP, SYP
38central neurocytoma10.0GFAP, SYP
39hypogonadotropic hypogonadism-retinitis pigmentosa syndrome10.0GFAP, SYP
40superior vena cava syndrome10.0GFAP, SYP
41piussan lenaerts mathieu syndrome10.0GFAP, SYP
42pneumothorax10.0GFAP, SYP
43brain stem astrocytic neoplasm10.0GFAP, SYP
44loeffler endocarditis10.0CRH, SYP
45calcific tendinitis10.0GFAP, SYP
46auricular cancer10.0GFAP, SYP
47arthus reaction10.0GFAP, SYP
48childhood central nervous system primitive neuroectodermal neoplasm10.0GFAP, SYP
49pancreatic cancer10.0GFAP, SYP
50pacinian tumor10.0GFAP, SYP

Graphical network of the top 20 diseases related to Gangliocytoma:



Diseases related to gangliocytoma

Symptoms & Phenotypes for Gangliocytoma

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Human phenotypes related to Gangliocytoma:

 54 64 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma64 54 Very frequent (99-80%) HP:0003005
2 headache64 54 Frequent (79-30%) HP:0002315
3 spinal cord tumor64 54 Frequent (79-30%) HP:0010302
4 hemianopsia54 Frequent (79-30%)
5 neoplasm of the central nervous system54 Frequent (79-30%)
6 amenorrhea64 54 Occasional (29-5%) HP:0000141
7 impotence64 54 Occasional (29-5%) HP:0000802
8 growth hormone excess64 54 Occasional (29-5%) HP:0000845
9 hyperhidrosis64 54 Occasional (29-5%) HP:0000975
10 abnormality of brainstem morphology64 54 Occasional (29-5%) HP:0002363
11 distal muscle weakness64 54 Occasional (29-5%) HP:0002460
12 scoliosis64 54 Occasional (29-5%) HP:0002650
13 paresthesia64 54 Occasional (29-5%) HP:0003401
14 accelerated skeletal maturation64 54 Occasional (29-5%) HP:0005616
15 focal seizures64 54 Occasional (29-5%) HP:0007359
16 adrenocorticotropic hormone excess64 54 Occasional (29-5%) HP:0011749
17 pituitary null cell adenoma64 54 Occasional (29-5%) HP:0011761
18 abnormality of the pituitary gland54 Occasional (29-5%)
19 decreased female libido64 54 Occasional (29-5%) HP:0030018
20 abnormal prolactin level64 54 Occasional (29-5%) HP:0040086
21 dementia64 54 Very rare (<4-1%) HP:0000726
22 somnolence54 Very rare (<4-1%)
23 abnormality of the cerebellum64 54 Very rare (<4-1%) HP:0001317
24 polyphagia64 54 Very rare (<4-1%) HP:0002591
25 syringomyelia64 54 Very rare (<4-1%) HP:0003396
26 pituitary prolactin cell adenoma64 54 Very rare (<4-1%) HP:0006767
27 excessive daytime somnolence64 HP:0001262
28 hemianopia64 HP:0012377

UMLS symptoms related to Gangliocytoma:


seizures

MGI Mouse Phenotypes related to Gangliocytoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2C9orf72, CRH, GFAP, PTEN, SYP, TH
2MP:00036318.1C9orf72, CRH, GFAP, PTEN, SYP, TH
3MP:00028737.7CRH, GFAP, PTEN, SYP, TH

Drugs & Therapeutics for Gangliocytoma

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Irinotecanapproved, investigationalPhase 1112397682-44-5, 100286-90-660838
Synonyms:
(+)-Irinotecan
(4S)-4,11-DIETHYL-4-HYDROXY-3,14-DIOXO-3,4,12,14-TETRAHYDRO-1H-PYRANO[3',4':6,7]INDOLIZINO[1,2-B]QUINOLIN-9-YL 1,4'-BIPIPERIDINE-1'-CARBOXYLATE
(4S)-4,11-Diethyl-4-hydroxy-3,14-dioxo-4,12-dihydro-1H-pyrano[3,4-f]quinolino[2,3-a]indolizin-9-yl 4-piperidylpiperidinecarboxylate
1u65
97682-44-5
AC-7469
AC1L1U0Z
AC1Q6PGI
BRD-K08547377-003-02-4
BSPBio_002346
Bio-0054
Biotecan
Biotecan (TN)
C16641
C33H38N4O6
CHEBI:105985
CHEMBL481
CID60838
CP0
Campothecin-11
Campto
Camptosar
 
Camptosar, Campto, CPT-11, Irinotecan
Camptothecin-11
D08086
DB00762
FT-0083650
HSDB 7607
IRINOTECAN HYDROCHLORIDE Trihydrate
IRINOTECAN, CPT-11
Irinotecan (INN)
Irinotecan Hcl
Irinotecan Hydrochloride
Irinotecan Hydrochloride Trihydrate
Irinotecan [INN:BAN]
Irinotecan hydrochloride
Irinotecanum
Irinotecanum [INN-Latin]
LS-44589
NCI60_005051
NSC728073
S1198_Selleck
TL8006026
UNII-7673326042
irinotecan
2
Bevacizumabapproved, investigationalPhase 12020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
3
CamptothecinexperimentalPhase 17147689-03-4
Synonyms:
(+)-camptothecin
(+)-camptothecine
(s)-(+)-camptothecin
 
(s)-camptothecin
20(S)-Camptothecin
21,22-Secocamptothecin-21-oic acid lactone
Camptothecine
D-camptothecin
4Topoisomerase InhibitorsPhase 15069
5topoisomerase I inhibitorsPhase 11370
6Angiogenesis Modulating AgentsPhase 14185
7Antineoplastic Agents, PhytogenicPhase 15602
8Angiogenesis InhibitorsPhase 14257

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS TumorsCompletedNCT01999270Phase 1
2Prospective Study Registry of Peripheral Neuroblastic Tumours Presenting With Spinal Canal Involvement (SCI)RecruitingNCT02559804
3International Congenital Central Hypoventilation Syndrome (CCHS) RegistryRecruitingNCT03088020

Search NIH Clinical Center for Gangliocytoma


Cochrane evidence based reviews: ganglioneuroma

Genetic Tests for Gangliocytoma

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Anatomical Context for Gangliocytoma

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MalaCards organs/tissues related to Gangliocytoma:

36
Cerebellum, Temporal lobe, Pituitary, Spinal cord, Brain, Medulla oblongata, Pineal

Publications for Gangliocytoma

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Articles related to Gangliocytoma:

(show top 50)    (show all 118)
idTitleAuthorsYear
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

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Cosmic variations for Gangliocytoma:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM28746IDH1central nervous system,brain,other,gangliocytomac.395G>Ap.R132H6
2COSM476BRAFcentral nervous system,temporal lobe,other,gangliogliomac.1799T>Ap.V600E5
3COSM99759IDH2central nervous system,temporal lobe,other,gangliogliomac.492G>Ap.W164*5
4COSM327928H3F3Acentral nervous system,spinal cord,other,gangliogliomac.83A>Tp.K28M4

Expression for genes affiliated with Gangliocytoma

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Search GEO for disease gene expression data for Gangliocytoma.

Pathways for genes affiliated with Gangliocytoma

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Pathways related to Gangliocytoma according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
28.7GFAP, SYP, TH
38.1GFAP, RBFOX3, SYP, TH

GO Terms for genes affiliated with Gangliocytoma

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:000989810.3PTEN, TH
2neuron projectionGO:00430059.7PTEN, SYP, TH
3terminal boutonGO:00431959.5SYP, TH
4neuronal cell bodyGO:00430259.5CRH, RBFOX3, TH
5perikaryonGO:00432049.4CRH, RBFOX3, TH

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1memoryGO:000761310.3PTEN, TH
2response to activityGO:001482310.3PTEN, TH
3response to corticosteroneGO:005141210.2CRH, TH
4learning or memoryGO:000761110.2CRH, PTEN
5long-term synaptic potentiationGO:006029110.2CRH, PTEN
6response to zinc ionGO:001004310.1PTEN, TH
7response to etherGO:004547210.1CRH, TH
8response to immobilization stressGO:003590210.1CRH, TH
9social behaviorGO:00351769.9PTEN, TH
10response to drugGO:00424939.7CRH, PTEN, TH
11response to ethanolGO:00454719.6CRH, PTEN, TH
12synaptic transmission, dopaminergicGO:00019639.5CRH, TH

Sources for Gangliocytoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet