MCID: GNG002
MIFTS: 52

Ganglioneuroma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ganglioneuroma

MalaCards integrated aliases for Ganglioneuroma:

Name: Ganglioneuroma 12 58 29 54 15 17 70

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4817
MeSH 44 D005729
NCIt 50 C3049 C42065
SNOMED-CT 67 189929007
ICD10 via Orphanet 33 D36.1
UMLS via Orphanet 71 C0017075
Orphanet 58 ORPHA251992
UMLS 70 C0017075 C1513025

Summaries for Ganglioneuroma

Disease Ontology : 12 An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum.

MalaCards based summary : Ganglioneuroma is related to cutaneous ganglioneuroma and gangliocytoma, and has symptoms including seizures An important gene associated with Ganglioneuroma is SYP (Synaptophysin), and among its related pathways/superpathways are Development HGF signaling pathway and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Trametinib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, thyroid and colon, and related phenotypes are ganglioneuroma and colorectal polyposis

Wikipedia : 73 Ganglioneuroma is a rare and benign tumor of the autonomic nerve fibers arising from neural crest... more...

Related Diseases for Ganglioneuroma

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

(show top 50) (show all 528)
# Related Disease Score Top Affiliating Genes
1 cutaneous ganglioneuroma 32.0 SYP NCAM1 ENO2 CHGA
2 gangliocytoma 31.8 TH SYP PTEN GFAP ENO2
3 appendix adenocarcinoma 31.7 SYP CHGA
4 central hypoventilation syndrome, congenital 31.0 TH RET NTRK2 MYCN
5 rare tumor 30.9 SST RET
6 neurofibroma 30.7 SYP S100B PTEN
7 neurilemmoma 30.5 S100B GFAP ENO2
8 adenoma 30.4 SYP SST RET CHGA
9 thyroid carcinoma 30.4 RET PTEN NTRK1
10 adrenal cortical adenoma 30.3 SYP ENO2 CHGA
11 cystic teratoma 30.2 SYP PTEN GFAP ENO2
12 adrenal carcinoma 30.1 SYP SST ENO2 CHGA
13 ectomesenchymoma 30.1 ENO2 CD99
14 myoblastoma 30.1 SYP ENO2
15 horner's syndrome 30.0 VIP TH MYCN ENO2
16 benign ependymoma 30.0 SYP PTEN GFAP
17 parachordoma 29.9 GFAP CHGA
18 multiple mucosal neuroma 29.9 RET NTRK1 ENO2
19 neuroma 29.9 S100B RET GFAP ENO2
20 adrenal neuroblastoma 29.8 SYP NTRK1 MYCN ENO2 CHGA
21 pancreatic cholera 29.8 VIP SST CHGA
22 retroperitoneal neuroblastoma 29.8 MYCN ENO2 CD99
23 vipoma 29.8 VIP SST CHGA
24 nodular ganglioneuroblastoma 29.7 NTRK2 MYCN ENO2 CHGA
25 papillary carcinoma 29.7 SYP RET NTRK1 CHGA
26 thyroid carcinoma, familial medullary 29.7 SST RET NTRK1 CHGA
27 mediastinal cancer 29.6 SYP NCAM1 ENO2 CHGA
28 benign teratoma 29.6 SYP NCAM1 ENO2 CHGA
29 cellular ependymoma 29.6 SYP S100B NCAM1 GFAP
30 thyroid gland medullary carcinoma 29.5 SYP SST RET NTRK1 CHGA
31 multiple endocrine neoplasia, type iia 29.5 SYP RET PNMT NTRK1 CHGA
32 teratoma 29.4 SYP SST PTEN GFAP ENO2 CHGA
33 ganglioneuroblastoma 29.4 VIP TH SYP S100B NTRK2 NTRK1
34 multiple endocrine neoplasia 29.4 VIP TH SST RET PNMT CHGA
35 extra-adrenal pheochromocytoma 29.4 SYP RET PNMT CHGA
36 neurofibromatosis, type i 29.4 SST S100B RET PTEN NCAM1 ENO2
37 hemangioma 29.3 SYP RET PTEN ENO2 CHGA
38 tuberous sclerosis 29.1 SYP SST S100B PTEN GFAP ENO2
39 olfactory neuroblastoma 28.8 SYP S100B NTRK2 NTRK1 ENO2 CHGA
40 neuroendocrine tumor 28.8 VIP SYP SST SCG2 RET NCAM1
41 pheochromocytoma 28.7 VIP TH SYP SST SCG2 RET
42 neuroblastoma 28.7 VIP TH SYP SST RET PTEN
43 paraganglioma 28.6 TH SYP SST S100B RET PNMT
44 malignant pheochromocytoma 28.6 TH SYP SST PNMT NCAM1 ENO2
45 rhabdomyosarcoma 28.5 SYP S100B PTEN NCAM1 MYCN GFAP
46 constipation 28.3 VIP TH SST S100B RET NTRK3
47 ganglioglioma 28.3 TH SYP S100B NTRK2 MYCN GFAP
48 ewing sarcoma 28.2 SYP S100B RET NCAM1 MYCN ENO2
49 neuroblastoma 1 10.9
50 adrenal gland pheochromocytoma 10.6

Graphical network of the top 20 diseases related to Ganglioneuroma:



Diseases related to Ganglioneuroma

Symptoms & Phenotypes for Ganglioneuroma

Human phenotypes related to Ganglioneuroma:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 58 31 obligate (100%) Obligate (100%) HP:0003005
2 colorectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0200063
3 abnormality of the mediastinum 58 31 frequent (33%) Frequent (79-30%) HP:0045026
4 multiple intestinal neurofibromatosis 58 31 frequent (33%) Frequent (79-30%) HP:0005220
5 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
6 hamartomatous polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004390
7 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
8 functional intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005249
9 neoplasm of the adrenal gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0100631
10 gastrointestinal hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0002239
11 abnormal bone structure 58 31 very rare (1%) Very rare (<4-1%) HP:0003330
12 central hypoventilation 58 31 very rare (1%) Very rare (<4-1%) HP:0007110
13 abnormality of the orbital region 58 31 very rare (1%) Very rare (<4-1%) HP:0000315
14 abnormal prostate morphology 31 very rare (1%) HP:0008775
15 abnormality of the adrenal glands 58 Frequent (79-30%)
16 abnormality of the rectum 58 Very rare (<4-1%)
17 abnormality of the prostate 58 Very rare (<4-1%)

UMLS symptoms related to Ganglioneuroma:


seizures

MGI Mouse Phenotypes related to Ganglioneuroma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ENO2 GALP GFAP MYCN NCAM1 NTF3
2 nervous system MP:0003631 10.2 CHGA ENO2 GFAP MYCN NCAM1 NTF3
3 growth/size/body region MP:0005378 10.18 CHGA ENO2 GALP GFAP MYCN NTF3
4 normal MP:0002873 10 GFAP MYCN NTF3 NTRK1 NTRK2 NTRK3
5 no phenotypic analysis MP:0003012 9.8 CHGA MYCN NTRK1 NTRK3 RET SST
6 respiratory system MP:0005388 9.61 ENO2 MYCN NTF3 NTRK2 NTRK3 PTEN
7 vision/eye MP:0005391 9.36 GFAP MYCN NCAM1 NTF3 NTRK1 NTRK2

Drugs & Therapeutics for Ganglioneuroma

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 4 871700-17-3 11707110
2
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
3 Protein Kinase Inhibitors Phase 4
4
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
5
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
6 Antimitotic Agents Phase 2
7 Tubulin Modulators Phase 2
8
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
9
Bevacizumab Approved, Investigational Phase 1 216974-75-3
10 Angiogenesis Inhibitors Phase 1
11 topoisomerase I inhibitors Phase 1
12 Antineoplastic Agents, Immunological Phase 1
13 Fluorodeoxyglucose F18
14 Radiopharmaceuticals
15 Edotreotide

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
2 Phase II Open-label Global Study to Evaluate the Effect of Dabrafenib in Combination With Trametinib in Children and Adolescent Patients With BRAF V600 Mutation Positive Low Grade Glioma (LGG) or Relapsed or Refractory High Grade Glioma (HGG) Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
3 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors, A Feasibility Study Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
4 International Congenital Central Hypoventilation Syndrome (CCHS) REDCap Registry Recruiting NCT03088020
5 Evaluation of the Safety and Sensitivity of 68Ga-DOTATOC PET/CT for Imaging NET Patients Recruiting NCT03583528
6 Utility of Gallium-68-DOTA-Octreotate PET/CT in the Characterization of Pediatric Neuroendocrine Tumors Recruiting NCT04040088 Early Phase 1 Gallium Ga 68-DOTATATE

Search NIH Clinical Center for Ganglioneuroma

Genetic Tests for Ganglioneuroma

Genetic tests related to Ganglioneuroma:

# Genetic test Affiliating Genes
1 Ganglioneuroma 29

Anatomical Context for Ganglioneuroma

MalaCards organs/tissues related to Ganglioneuroma:

40
Adrenal Gland, Thyroid, Colon, Lung, Prostate, Bone, Brain

Publications for Ganglioneuroma

Articles related to Ganglioneuroma:

(show top 50) (show all 1626)
# Title Authors PMID Year
1
Ectopic Cushing's syndrome due to an adrenal ganglioneuroma. 61 54
20389113 2010
2
Distinct CpG methylation profiles characterize different clinical groups of neuroblastic tumors. 54 61
16044164 2005
3
Adrenal ganglioneuromas in children with multiple endocrine neoplasia type 2: a report of two cases. 54 61
15827098 2005
4
TrkA expression in peripheral neuroblastic tumors: prognostic significance and biological relevance. 54 61
15386308 2004
5
Paraneoplastic syndromes in ganglioneuroblastoma: contrasting symptoms of constipation and diarrhoea. 54 61
12739135 2003
6
Real-time analysis of tyrosine hydroxylase gene expression: a sensitive and semiquantitative marker for minimal residual disease detection of neuroblastoma. 61 54
12576454 2003
7
Galanin and galanin receptor expression in neuroblastic tumours: correlation with their differentiation status. 61 54
11857022 2002
8
Neurotrophins and neurotrophin receptors in some neural crest-derived tumours (ganglioneuroma, phaeochromocytoma and paraganglioma). 54 61
10217562 1999
9
Thoracic paravertebral ganglioneuroma with high immunohistochemical expression of TrkA. 61 54
19519647 1999
10
CD44 expression in neuroblastoma and related tumors. 54 61
9256826 1997
11
Clinical relevance of TRKA expression on neuroblastoma: comparison with N-MYC amplification and CD44 expression. 61 54
9099963 1997
12
Pancreastatin immunoreactivity in favourable childhood neuroblastoma and ganglioneuroma. 61 54
7576967 1995
13
Somatostatin and vasoactive intestinal peptide (VIP) in neuroblastoma and ganglioneuroma: chromatographic characterisation and release during surgery. 54 61
7576950 1995
14
Tyrosine hydroxylase indicates cell differentiation of catecholamine biosynthesis in neuroendocrine tumors. 54 61
7523477 1994
15
Chromogranin A, secretogranin II and vasoactive intestinal peptide in phaeochromocytomas and ganglioneuromas. 61 54
8354485 1993
16
Extra-adrenal pheochromocytoma-ganglioneuroma. A case report. 61 54
1300605 1992
17
Nerve growth factor receptor expression in peripheral and central neuroectodermal tumors, other pediatric brain tumors, and during development of the adrenal gland. 61 54
1649553 1991
18
Presentation and outcomes of adrenal ganglioneuromas: A cohort study and a systematic review of literature. 61
33721367 2021
19
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? 61
33367756 2021
20
Pancreatic Ganglioneuroma Presenting in an Octogenarian. 61
33763500 2021
21
Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review. 61
33779033 2021
22
Robotic and standard surgical intervention as adjunct therapies for retroperitoneal ganglioneuroma resection: a case report. 61
33740932 2021
23
Preoperative tracheal resection and reconstruction simulations with patient-specific three-dimensional models. 61
33123845 2021
24
Clinical and Pathological Evidence of Anti-GD2 Immunotherapy Induced Differentiation in Relapsed/Refractory High-Risk Neuroblastoma. 61
33809255 2021
25
Composite phaeochromocytomas-a systematic review of published literature. 61
33651160 2021
26
A Common Tumor with an Unusual Finding: Mature Cystic Teratoma Containing a Ganglioneuroma. 61
32828965 2021
27
Oncovascular Resection of a Ganglioneuroma Involving the Coeliac Trunk and Hepatic Artery-A Case Report. 61
33583359 2021
28
Unusual appearance of an adrenal ganglioneuroma. 61
33354270 2021
29
The occurrence of giant mesenteric cyst and adrenal ganglioneuroma in a schizophrenic male patient presenting as pseudocyesis: A case report. 61
33489158 2021
30
An urban legend: Malignant transformation caused by radiotherapy in patients with presacral ganglioneuroma. The necessity and first-time administration of radiotherapy. Case report and literature review. 61
33723163 2021
31
Laparoscopic resection of a large nonadrenal ganglioneuroma adhered to the aorta and inferior mesenteric artery: A case report and literature review. 61
33310462 2021
32
Retroperitoneal ganglioneuroma causing chronic lower back and leg pain in an 80-year-old man: A case report. 61
33437470 2021
33
Mediastinal ganglioneuroma with osseous invasion simulating malignant transformation of osteochondroma on CT imaging. 61
33144905 2021
34
Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese. 61
32914730 2021
35
Diagnostic values of 68Ga-labelled DOTANOC PET/CT imaging in pediatric patients presenting with paraneoplastic opsoclonus myoclonus ataxia syndrome. 61
33409780 2021
36
A Case of Recurrent Urinary Tract Infections With Neurogenic Bladder Due to Spinal Tumors. 61
33558821 2021
37
Targeting ganglioneuromas with mTOR inhibitors. 61
33553609 2021
38
Importance of Magnetic Resonance Imaging With Diffusion-weighted Imaging in Guiding Biopsy of Nodular Ganglioneuroblastoma: A Case Report. 61
31815883 2021
39
Expression of BARD1 β Isoform in Selected Pediatric Tumors. 61
33530592 2021
40
Ganglioneuromas across age groups: Systematic review of individual patient data. 61
32702779 2021
41
New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma. 61
33308182 2020
42
[A case of Endocrine Active Retroperitoneal Ganglioneuroma, Difficult to Differentiate From Adrenal Pheochromocytoma]. 61
33435654 2020
43
Dopamine secreting adrenal tumor-ganglioneuroma rather than pheochromocytoma: case report. 61
33447572 2020
44
Adrenal Ganglioneuroma: A Rare Tumor of the Autonomic Nervous System. 61
33532158 2020
45
Ganglioneuroma of the Phrenic Nerve: An Unusual Site. 61
31784346 2020
46
Cervical ganglioneuroma mimicking a carotid body tumour. 61
33298500 2020
47
Large adrenal ganglioneuroma: A rare entity with atypical radiological characteristics. 61
32415649 2020
48
Feasibility and possible value of quantitative semi-automated diffusion weighted imaging volumetry of neuroblastic tumors. 61
33334369 2020
49
Computed tomography characteristics of adrenal ganglioneuroma: a retrospective analysis of 30 pathologically-confirmed cases. 61
33176508 2020
50
Laparoscopic excision of a large Adrenal Ganglioneuroma masquerading as Pheochromocytoma- A case report & review of literature. 61
32489900 2020

Variations for Ganglioneuroma

Expression for Ganglioneuroma

Search GEO for disease gene expression data for Ganglioneuroma.

Pathways for Ganglioneuroma

Pathways related to Ganglioneuroma according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 PTEN NTRK3 NTRK2 NTRK1 NTF3
2
Show member pathways
12.37 NTRK3 NTRK2 NTRK1 NTF3
3
Show member pathways
12.28 NTRK3 NTRK2 NTRK1 NTF3
4 12.16 RET NTRK3 NTRK2 NTRK1
6 11.94 VIP TH SYP S100B RET NTRK3
7 11.91 TH SST RET NTRK2
8 11.71 NTRK3 NTRK2 NTRK1 NTF3 NCAM1
9 11.47 RET PTEN NTRK3 NTRK1
10
Show member pathways
11.34 NTRK3 NTRK2 NTRK1 NTF3
11 11.33 TH SYP S100B NTF3 NCAM1 GFAP
12 11.2 NTRK3 NTRK2 NTRK1
13 10.83 NTRK3 NTRK2 NTRK1 NTF3 GFAP
14
Show member pathways
10.54 NTRK2 NTRK1

GO Terms for Ganglioneuroma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 VIP SST SCG2 S100B PTEN NTF3
2 dendrite GO:0030425 9.8 TH RET NTRK2 NTRK1 NTF3
3 neuron projection GO:0043005 9.65 VIP TH SYP PTEN NCAM1
4 receptor complex GO:0043235 9.62 RET NTRK3 NTRK2 NTRK1
5 neuronal cell body GO:0043025 9.55 TH SST RET NTRK1 ENO2
6 neuronal dense core vesicle GO:0098992 9.37 SCG2 CHGA
7 terminal bouton GO:0043195 9.13 TH SYP NTRK2
8 axon GO:0030424 9.1 TH RET NTRK3 NTRK2 NTRK1 NTF3

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10 RET PTEN NTRK3 NTRK2 MYCN
2 positive regulation of cell proliferation GO:0008284 10 VIP S100B PTEN NTRK3 NTRK2 NTF3
3 nervous system development GO:0007399 9.95 RET PTEN NTRK3 NTRK2 NTRK1 NTF3
4 response to drug GO:0042493 9.89 TH SST RET PTEN NTRK1
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 PTEN NTRK3 NTRK2 NTRK1
6 peptidyl-tyrosine phosphorylation GO:0018108 9.84 RET NTRK3 NTRK2 NTRK1
7 positive regulation of neuron projection development GO:0010976 9.81 RET NTRK3 NTRK2 NTRK1
8 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.79 NTRK3 NTRK2 NTF3
9 memory GO:0007613 9.77 TH PTEN NTF3
10 positive regulation of MAPK cascade GO:0043410 9.76 RET NTRK3 NTRK2 NTRK1
11 long-term synaptic potentiation GO:0060291 9.73 PTEN NTRK2 GFAP
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.71 NTRK3 NTRK2 NTRK1 NTF3
13 positive regulation of kinase activity GO:0033674 9.67 RET NTRK3 NTRK2 NTRK1
14 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.65 RET NTRK3 NTRK2 NTRK1 NTF3
15 positive regulation of phospholipase C activity GO:0010863 9.62 NTRK3 NTF3
16 learning or memory GO:0007611 9.62 VIP S100B PTEN NTRK1
17 nerve growth factor signaling pathway GO:0038180 9.61 NTRK1 NTF3
18 cellular response to nicotine GO:0071316 9.59 TH NTRK1
19 positive regulation of neurotrophin TRK receptor signaling pathway GO:0051388 9.58 NTRK3 NTF3
20 catecholamine biosynthetic process GO:0042423 9.57 TH PNMT
21 mechanoreceptor differentiation GO:0042490 9.55 NTRK2 NTRK1
22 cellular response to nerve growth factor stimulus GO:1990090 9.46 PTEN NTRK3 NTRK2 NTRK1
23 epinephrine biosynthetic process GO:0042418 9.43 TH PNMT
24 neurotrophin signaling pathway GO:0038179 9.13 NTRK3 NTRK2 NTRK1
25 regulation of protein kinase B signaling GO:0051896 8.92 PTEN NTRK3 NTRK2 NTRK1

Molecular functions related to Ganglioneuroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 VIP TH SYP SST SCG2 S100B
2 protein tyrosine kinase activity GO:0004713 9.56 RET NTRK3 NTRK2 NTRK1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 RET NTRK3 NTRK2 NTRK1
4 GPI-linked ephrin receptor activity GO:0005004 9.32 NTRK3 NTRK1
5 neurotrophin binding GO:0043121 9.13 NTRK3 NTRK2 NTRK1
6 neurotrophin receptor activity GO:0005030 8.8 NTRK3 NTRK2 NTRK1

Sources for Ganglioneuroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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