MCID: GNG005
MIFTS: 42

Gangliocytoma malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Gangliocytoma

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Aliases & Descriptions for Gangliocytoma:

Name: Gangliocytoma 11 46 13 52
 
Ganglioneuroma 37 66

Classifications:



External Ids:

Disease Ontology11 DOID:2426
MeSH37 D005729
NCIt43 C3049, C6934
Orphanet52 ORPHA251937

Summaries for Gangliocytoma

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NIH Rare Diseases:46 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Neuroscience. Affiliated tissues include cerebellum, temporal lobe and pituitary, and related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia:69 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 ganglioneuroma12.2
3cowden disease11.4
4cowden syndrome 111.1
5adenoma10.4
6pituitary adenoma10.3
7perry syndrome10.3C9orf72, TH
8hypogonadism cardiomyopathy10.2SYP, TH
9space motion sickness10.2SYP, TH
10acromegaly10.2
11lactic acidosis10.2RBFOX3, SYP
12pilocytic astrocytoma10.1RBFOX3, SYP
13colloid carcinoma of the pancreas10.1RBFOX3, SYP
14cerebritis10.1
15ganglioglioma10.1
16prolactinoma10.1
17non-congenital cyst of kidney10.0PTEN, SYP
18esophagitis10.0SYP, TH
19medulloblastoma10.0
20papillary serous adenocarcinoma10.0SYP, TH
21parkinson disease 110.0SYP, TH
22cell type cancer9.9PTEN, SYP
23uterine corpus epithelioid leiomyosarcoma9.9GFAP, PTEN
24early myoclonic encephalopathy9.9GFAP, PTEN
25grubben de cock borghgraef syndrome9.9GFAP, SYP
26papillary glioneuronal tumor9.9GFAP, SYP
27dementia9.9
28neuroendocrine tumor9.9
29epilepsy9.9
30astrocytoma9.9
31glioblastoma9.9
32bladder flat intraepithelial lesion9.9GFAP, SYP
33lice infestation9.9GFAP, SYP
34compartment syndrome9.9GFAP, PTEN
35chiari malformation type 49.9GFAP, SYP
36cauda equina neoplasm9.9GFAP, SYP
37brain glioma9.9GFAP, SYP
38vulvar benign neoplasm9.9GFAP, SYP
39hypersensitivity reaction type ii disease9.9GFAP, SYP
40brainstem intraparenchymal clear cell meningioma9.9GFAP, SYP
41jewett-marshall bladder cancer9.9GFAP, SYP
42lumbar plexus neoplasm9.9GFAP, SYP
43yolk sac tumor of central nervous system9.9GFAP, SYP
44pilomyxoid astrocytoma9.9GFAP, SYP
45choroid disease9.9GFAP, SYP
46subpulmonary stenosis9.9GFAP, SYP
47vitamin metabolic disorder9.8GFAP, SYP
48pineoblastoma9.8GFAP, SYP
49intracystic papillary adenoma9.8GFAP, SYP
50malignant granular cell esophageal tumor9.8GFAP, SYP

Graphical network of the top 20 diseases related to Gangliocytoma:



Diseases related to gangliocytoma

Symptoms for Gangliocytoma

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Symptoms:

 52 (show all 26)
  • ganglioneuroma
  • headache
  • spinal cord tumor
  • hemianopsia
  • neoplasm of the central nervous system
  • amenorrhea
  • impotence
  • growth hormone excess
  • hyperhidrosis
  • abnormality of brainstem morphology
  • distal muscle weakness
  • scoliosis
  • paresthesia
  • accelerated skeletal maturation
  • focal seizures
  • adrenocorticotropic hormone excess
  • pituitary null cell adenoma
  • abnormality of the pituitary gland
  • decreased female libido
  • abnormal prolactin level
  • dementia
  • somnolence
  • abnormality of the cerebellum
  • polyphagia
  • syringomyelia
  • pituitary prolactin cell adenoma

UMLS symptoms related to Gangliocytoma:


seizures

Drugs & Therapeutics for Gangliocytoma

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1topoisomerase I inhibitorsPhase 01313
2
IrinotecanPhase 0106297682-44-5, 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
3
CamptothecinPhase 05697689-03-4
Synonyms:
(+)-camptothecin
(+)-camptothecine
(s)-(+)-camptothecin
 
(s)-camptothecin
20(S)-Camptothecin
21,22-Secocamptothecin-21-oic acid lactone
Camptothecine
D-camptothecin
4
BevacizumabPhase 01938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS TumorsCompletedNCT01999270Phase 0
2Prospective Study Registry of Peripheral Neuroblastic Tumours Presenting With Spinal Canal Involvement (SCI)RecruitingNCT02559804

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:

34
Cerebellum, Temporal lobe, Pituitary, Spinal cord, Brain, Medulla oblongata, Pineal

Animal Models for Gangliocytoma or affiliated genes

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MGI Mouse Phenotypes related to Gangliocytoma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.6C9orf72, GFAP, PTEN, SYP, TH
2MP:00036317.3C9orf72, GFAP, PTEN, SYP, TH

Publications for Gangliocytoma

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Articles related to Gangliocytoma:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature. (27057227)
2016
2
Sellar gangliocytoma with adrenocorticotropic and prolactin adenoma. (26314658)
2015
3
Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection. (23611590)
2013
4
Gangliocytoma of the medulla oblongata demonstrating high tracer uptake on positron emission tomography. (21732072)
2012
5
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. (22499315)
2012
6
Intramedullary gangliocytoma with calcification and multiple intramedullary cysts. (22538840)
2012
7
Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). (23135053)
2012
8
Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). (19332858)
2009
9
Subfrontal gangliocytoma masquerading as olfactory groove meningioma. (19234914)
2009
10
An unusual association of a sellar gangliocytoma with a prolactinoma. (17440820)
2008
11
Gangliocytoma of the spinal cord. (17460525)
2007
12
Diffuse cerebral gangliocytoma in an adult with late-onset refractory epilepsy. (17990996)
2007
13
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). (16934474)
2006
14
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma). (15670528)
2005
15
Radiology case of the month. Gait disturbance. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). (15554090)
2004
16
Posterior fossa gangliocytoma with facial nerve invasion: case report. (12806511)
2003
17
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? (11886354)
2002
18
Mixed gangliocytoma--adenoma of the sella: case report. (12500383)
2002
19
Gangliocytoma of the spinal cord: a case report. (11373931)
2001
20
Mixed gangliocytoma/pituitary adenoma. (10768636)
2000
21
Anaplastic gangliocytoma with eosinophilic cytoplasmic granules in a cow. (10487247)
1999
22
Gangliocytoma masquerading as a prolactinoma. Case report. (10470826)
1999
23
Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. (10222433)
1999
24
Lhermitte-Duclos disease (cerebellar gangliocytoma). (8969359)
1996
25
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). (7656495)
1995
26
Intracranial gangliocytoma in a dog. (7771061)
1995
27
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (7964980)
1994
28
Combined sellar gangliocytoma and pituitary adenoma in acromegaly or Cushing's disease. A report of 3 cases. (7921420)
1994
29
MRI of gangliocytoma of cerebellum and spinal cord. (8491919)
1993
30
Parvalbumin and calbindin D-28K immunoreactivity in central ganglioglioma and dysplastic gangliocytoma of the cerebellum. Report of two cases. (8416231)
1993
31
Holoprosencephaly, hamartomatous growth of the cerebrum, dysplastic gangliocytoma of the cerebellum, unique brain anomalies, and renal agenesis in a Brazilian infant born to a diabetic mother: a clinical and pathologic study. (8280891)
1993
32
Recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) presenting with subarachnoid haemorrhage. (1590970)
1992
33
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)--a case report with review of the literature. (1473839)
1992
34
Intramedullary secretory gangliocytoma. (1767634)
1991
35
Gastrin in a hypothalamic gangliocytoma of an acromegalic patient. (2347089)
1990
36
Mixed gangliocytoma-adenoma: a distinct neuroendocrine tumor of the pituitary fossa. (2591950)
1989
37
Intrasellar gangliocytoma containing gastrin and growth hormone-releasing hormone associated with a growth hormone-secreting pituitary adenoma. (2512034)
1989
38
Neuroendocrine markers in central nervous system neuronal tumors (gangliocytoma and ganglioglioma). (2922988)
1989
39
Gangliocytoma of the cerebellum: ultrastructure and immunohistochemistry. (3362326)
1988
40
Dysplastic gangliocytoma. (3419579)
1988
41
MR and CT characteristics of gangliocytoma: a rare cause of epilepsy in children. (3140636)
1988
42
Computerized tomographic (CT) and magnetic resonance imaging (MRI) appearance of a cerebral gangliocytoma. (3564519)
1987
43
Orthostatic hypotension from a cerebellar gangliocytoma (Lhermitte-Duclos disease). Case report. (3723183)
1986
44
Hypothalamic gangliocytoma. Selective appearance of neurofibrillary changes, granulovacuolar degeneration, and argentophilic bodies. (3022544)
1986
45
Gangliocytoma of the pineal body. A case report and review of the literature. (3872555)
1985
46
Dysplastic gangliocytoma of cerebellum in a newborn. Case report. (6707754)
1984
47
Clinical and pathological study of dysplastic gangliocytoma. Case report. (7252559)
1981
48
A Golgi and electron microscopic study of a dysplastic gangliocytoma of the cerebellum. (474077)
1979
49
Dysplastic gangliocytoma of the cerebellum--an ultrastructural study. (207069)
1978
50
Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. Case report. (903815)
1977

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
1COSM476BRAFcentral nervous system,brainstem,other,gangliogliomac.1799T>Ap.V600E0
2COSM28746IDH1central nervous system,brain,other,gangliogliomac.395G>Ap.R132H0
3COSM327928H3F3Acentral nervous system,spinal cord,other,gangliogliomac.83A>Tp.K28M0
4COSM99759IDH2central nervous system,temporal lobe,other,gangliogliomac.492G>Ap.W164*0

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
18.5GFAP, SYP, TH
28.0GFAP, 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:00098989.7PTEN, TH
2synaptic vesicleGO:00080219.5SYP, TH
3terminal boutonGO:00431959.3SYP, TH
4cell projectionGO:00429958.9GFAP, PTEN
5neuron projectionGO:00430058.8PTEN, SYP, TH

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

idNameGO IDScoreTop Affiliating Genes
1response to zinc ionGO:00100439.8PTEN, TH
2memoryGO:00076139.7PTEN, TH
3social behaviorGO:00351769.5PTEN, TH
4long-term synaptic potentiationGO:00602919.4GFAP, PTEN
5locomotory behaviorGO:00076269.2PTEN, TH

Sources for Gangliocytoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet