MCID: GNG002
MIFTS: 51

Ganglioneuroma

Categories: Neuronal diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Ganglioneuroma

MalaCards integrated aliases for Ganglioneuroma:

Name: Ganglioneuroma 12 59 29 55 15 73

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4817
NCIt 50 C42065
Orphanet 59 ORPHA251992
UMLS via Orphanet 74 C0017075
ICD10 via Orphanet 34 D36.1
UMLS 73 C1513025

Summaries for Ganglioneuroma

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 Neuroscience and Tyrosine Kinases / Adaptors. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, colon and bone, and related phenotypes are ganglioneuroma and multiple intestinal neurofibromatosis

Wikipedia : 76 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 300)
# Related Disease Score Top Affiliating Genes
1 cutaneous ganglioneuroma 33.5 ENO2 NCAM1 SYP
2 gangliocytoma 32.6 GFAP SYP
3 cystic teratoma 29.9 ENO2 GFAP SYP
4 teratoma 29.8 ENO2 GFAP SYP
5 ependymoma 29.6 ENO2 GFAP SYP
6 neuroblastoma 29.3 ENO2 MYCN NCAM1 NTRK1 NTRK2 SYP
7 paraganglioma 29.0 CHGA ENO2 RET SYP
8 olfactory neuroblastoma 28.4 CHGA ENO2 NTRK1 SYP
9 multiple endocrine neoplasia, type i 28.2 CHGA RET SYP VIP
10 pheochromocytoma 28.1 CHGA ENO2 NTRK1 RET SYP VIP
11 ganglioneuroblastoma 28.0 ENO2 GALP MYCN NTRK1 NTRK2 SYP
12 thyroid carcinoma, familial medullary 28.0 CHGA ENO2 NTRK1 RET
13 multiple endocrine neoplasia, type iib 11.4
14 central hypoventilation syndrome, congenital 11.4
15 multiple endocrine neoplasia, type iia 10.9
16 appendix adenocarcinoma 10.9
17 malignant sertoli cell tumor 10.7 ENO2 SYP
18 sinonasal undifferentiated carcinoma 10.7 ENO2 SYP
19 pancreatic somatostatinoma 10.7 ENO2 SYP
20 papillary tumor of the pineal region 10.7 ENO2 SYP
21 middle ear adenoma 10.7 ENO2 SYP
22 ovarian carcinosarcoma 10.7 ENO2 SYP
23 cerebellum cancer 10.7 ENO2 SYP
24 extraosseous chondrosarcoma 10.7 ENO2 SYP
25 extraventricular neurocytoma 10.7 GFAP SYP
26 malignant teratoma 10.7 ENO2 SYP
27 subcortical arteriosclerotic encephalopathy 10.6 GFAP VIP
28 mucinous ovarian cystadenoma 10.6 ENO2 SYP
29 rhabdoid meningioma 10.6 GFAP SYP
30 pilomyxoid astrocytoma 10.6 GFAP SYP
31 desmoplastic small round cell tumor 10.6 ENO2 SYP
32 chiari malformation 10.6 GFAP SYP
33 bone benign neoplasm 10.6 ENO2 SYP
34 dysembryoplastic neuroepithelial tumor 10.6 GFAP SYP
35 meningeal melanomatosis 10.6 ENO2 SYP
36 extraskeletal ewing sarcoma 10.6 ENO2 SYP
37 angiocentric glioma 10.6 GFAP SYP
38 obstructive hydrocephalus 10.6 GFAP SYP
39 medulloepithelioma 10.6 GFAP SYP
40 connective tissue benign neoplasm 10.6 ENO2 SYP
41 anaplastic ependymoma 10.6 GFAP SYP
42 glomus tumor 10.6 ENO2 SYP
43 intraocular retinoblastoma 10.5 ENO2 SYP
44 childhood oligodendroglioma 10.5 GFAP SYP
45 pancreatic endocrine carcinoma 10.5 NCAM1 SYP
46 mixed cell type cancer 10.5 ENO2 SYP
47 intracranial cysts 10.5 ENO2 GFAP
48 primitive neuroectodermal tumor of the cervix uteri 10.5 ENO2 GFAP
49 supratentorial primitive neuroectodermal tumor 10.5 NCAM1 SYP
50 melanotic medulloblastoma 10.5 ENO2 GFAP

Graphical network of the top 20 diseases related to Ganglioneuroma:



Diseases related to Ganglioneuroma

Symptoms & Phenotypes for Ganglioneuroma

Human phenotypes related to Ganglioneuroma:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 59 32 obligate (100%) Obligate (100%) HP:0003005
2 multiple intestinal neurofibromatosis 59 32 frequent (33%) Frequent (79-30%) HP:0005220
3 abnormality of the mediastinum 59 32 frequent (33%) Frequent (79-30%) HP:0045026
4 colorectal polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0200063
5 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
6 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
7 hamartomatous polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004390
8 functional intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005249
9 neoplasm of the adrenal gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0100631
10 abnormality of the orbital region 59 32 very rare (1%) Very rare (<4-1%) HP:0000315
11 gastrointestinal hemorrhage 59 32 very rare (1%) Very rare (<4-1%) HP:0002239
12 abnormal bone structure 59 32 very rare (1%) Very rare (<4-1%) HP:0003330
13 central hypoventilation 59 32 very rare (1%) Very rare (<4-1%) HP:0007110
14 abnormality of the prostate 59 32 very rare (1%) Very rare (<4-1%) HP:0008775
15 abnormality of the adrenal glands 59 Frequent (79-30%)
16 abnormality of the rectum 59 Very rare (<4-1%)

UMLS symptoms related to Ganglioneuroma:


seizures

GenomeRNAi Phenotypes related to Ganglioneuroma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell viability after pRB stimulation GR00230-A-1 8.8 NTRK1 NTRK2 RET

MGI Mouse Phenotypes related to Ganglioneuroma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 NTRK1 NTRK2 RET SYP ENO2 VIP
2 growth/size/body region MP:0005378 9.76 NTRK1 NTRK2 RET CHGA ENO2 GALP
3 nervous system MP:0003631 9.56 NTRK1 NTRK2 RET SYP ENO2 GFAP
4 normal MP:0002873 9.17 NTRK1 NTRK2 RET SYP VIP GFAP

Drugs & Therapeutics for Ganglioneuroma

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3 Protein Kinase Inhibitors Phase 2
4
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
5
Bevacizumab Approved, Investigational Phase 1 216974-75-3
6
Camptothecin Experimental Phase 1 7689-03-4
7 topoisomerase I inhibitors Phase 1
8 Topoisomerase Inhibitors Phase 1
9 Angiogenesis Inhibitors Phase 1
10 Angiogenesis Modulating Agents Phase 1
11 Antineoplastic Agents, Phytogenic Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
2 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
3 Prospective Study Registry of Peripheral Neuroblastic Tumours Presenting With Spinal Canal Involvement (SCI) Unknown status NCT02559804
4 International Congenital Central Hypoventilation Syndrome (CCHS) Registry Recruiting NCT03088020
5 DOTATOC PET/CT for Imaging NET Patients Not yet recruiting NCT03583528

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:

41
Adrenal Gland, Colon, Bone, Prostate, Spinal Cord, Pituitary, Skin

Publications for Ganglioneuroma

Articles related to Ganglioneuroma:

(show top 50) (show all 618)
# Title Authors Year
1
Characteristics and management of ganglioneuroma and ganglioneuroblastoma-intermixed in children and adolescents. ( 29369484 )
2018
2
Left adrenal ganglioneuroma: Report of a new case. ( 29631229 )
2018
3
Intraoperative Nerve Monitoring in Robotic-Assisted Resection Of Presacral Ganglioneuroma: Operative Technique. ( 29554323 )
2018
4
Cervical ganglioneuroma: clinical and radiological features of a rare tumour. ( 29326343 )
2018
5
Massive thoracic ganglioneuroma with significant mass effect on left hemithorax. ( 29437731 )
2018
6
Surgical approach to adrenal ganglioneuroma: Case report and literature review. ( 29974732 )
2018
7
Giant Thoracolumbar Dumbbell Ganglioneuroma. ( 29698954 )
2018
8
A rare cause of chronic ataxia in childhood: ganglioneuroma. ( 29532434 )
2018
9
Primary cutaneous ganglioneuroma: anatomico-clinical study of 4 cases with focus on Merkel cells. ( 29569258 )
2018
10
Adrenal collision tumor (parachordoma and ganglioneuroma): A case report. ( 29844903 )
2018
11
Adrenal Ganglioneuroma: Features and Outcomes of 42 Cases in a Chinese Population. ( 29383425 )
2018
12
Simultaneous Presentation of Wilms' Tumor and Contralateral Ganglioneuroma in a Child: Case Report and Literature Review. ( 29334535 )
2018
13
Intradural ganglioneuroma mimicking lumbar disc herniation. Case Report. ( 29886296 )
2018
14
Lingual ganglioneuroma in a dog. ( 29367496 )
2018
15
Magnetic resonance neurography in the diagnosis of a retroperitoneal ganglioneuroma: Case report and literature review. ( 29904477 )
2018
16
Extensive spinal extradural ganglioneuroma of the lumbar spine: mimicking lymphoma. ( 29594468 )
2018
17
Ganglioneuroma of the retropharyngeal space in a patient with glottic cancer. ( 28882936 )
2017
18
Ganglioneuroma of the Neck: A case report. ( 29148641 )
2017
19
Adrenal ganglioneuroma: The Padua Endocrine Surgery Unit experience. ( 28506406 )
2017
20
Giant Ganglioneuroma of Thoracic Spine: A Case Report and Review of Literature. ( 28490166 )
2017
21
Ganglioneuroma of the External Auditory Canal and Middle Ear. ( 28875046 )
2017
22
A Case Report of Giant Adrenal Ganglioneuroma. ( 28443238 )
2017
23
Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report. ( 27704704 )
2017
24
Robotic assisted laparoscopic excision of a retroperitoneal Ganglioneuroma. ( 28537695 )
2017
25
Surgical management and outcomes of ganglioneuroma and ganglioneuroblastoma-intermixed. ( 28608056 )
2017
26
Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report. ( 28760150 )
2017
27
Harlequin Syndrome Following Resection of Mediastinal Ganglioneuroma. ( 28382275 )
2017
28
Case report: Robot-assisted laparoscopic excision of giant ganglioneuroma of the adrenal gland. ( 28748502 )
2017
29
Colonic Ganglioneuroma: A Rare Finding during Colorectal Cancer Screening. ( 29033760 )
2017
30
Retroperitoneal Ganglioneuroma Mimicking a Kidney Tumor. Case Report. ( 28607627 )
2017
31
Every polyp is not an adenoma: Ganglioneuroma of the colon. ( 29198570 )
2017
32
Synchronous Ganglioneuroma and Schwannoma Mistaken for Carotid Body Tumor. ( 29147595 )
2017
33
Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma. ( 28868283 )
2017
34
Adrenal ganglioneuroma: What you need to know. ( 29085827 )
2017
35
Ganglioneuroma of the Sacrum. ( 29017308 )
2017
36
Chylothorax after mediastinal ganglioneuroma resection treated with fibrin sealant patch: a case report. ( 29221335 )
2017
37
Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: A Clinicopathologic Study of Eight Cases with Analysis of Succinate Dehydrogenase. ( 28752484 )
2017
38
Excision of a Presacral Ganglioneuroma in a Young Man. ( 28738920 )
2017
39
Appendiceal ganglioneuroma in neurofibromatosis type 2. ( 28578246 )
2017
40
Giant Ganglioneuroma in a 5-Year Child. ( 28302232 )
2017
41
Intrathoracic ganglioneuroma presenting as an endobronchial mass. ( 28879079 )
2017
42
Trigeminal Ganglioneuroma in the Middle-posterior Cranial Fossa: a Case Report. ( 28693694 )
2017
43
Images in Endocrine Pathology: Unique Composite Adrenal Adenomatoid Tumor, Ganglioneuroma, Myelolipoma, and Cortical Nodular Hyperplasia. ( 28382483 )
2017
44
De Novo Tumors of Teratoma: Ganglioneuroma Arising From a Mature Cystic Teratoma of the Ovary. ( 28700440 )
2017
45
Ganglioneuroma of the lumbar spine presenting with scoliosis in a 7-year-old child. ( 27012649 )
2016
46
Organ Preservation in a Case of Retroperitoneal Ganglioneuroma: A Case Report and Review of Literature. ( 27668117 )
2016
47
Treatment and outcome of Ganglioneuroma and Ganglioneuroblastoma intermixed. ( 27465021 )
2016
48
Adrenal Collision Tumor: Coexistence of Pigmented Adrenal Cortical Oncocytoma and Ganglioneuroma. ( 28053800 )
2016
49
Adrenal ganglioneuroma in a pregnant woman. ( 27364185 )
2016
50
Advanced MRI manifestations of trigeminal ganglioneuroma: a case report and literature review. ( 27576442 )
2016

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:

# Super pathways Score Top Affiliating Genes
1 11.81 ENO2 GFAP MYCN NCAM1 NTRK1 NTRK2
2 11.67 NTRK1 NTRK2 RET
3 11.59 NCAM1 NTRK1 NTRK2
4 11.03 GFAP NCAM1 SYP
5
Show member pathways
10.2 NTRK1 NTRK2

GO Terms for Ganglioneuroma

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 NTRK1 NTRK2 RET

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

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.65 NCAM1 NTRK1 RET
2 peptidyl-tyrosine phosphorylation GO:0018108 9.63 NTRK1 NTRK2 RET
3 positive regulation of MAPK cascade GO:0043410 9.58 NTRK1 NTRK2 RET
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.54 NTRK1 NTRK2 RET
5 negative regulation of signal transduction GO:0009968 9.5 NTRK1 NTRK2 RET
6 innervation GO:0060384 9.43 NTRK1 RET
7 positive regulation of neuron projection development GO:0010976 9.43 NTRK1 NTRK2 RET
8 positive regulation of kinase activity GO:0033674 9.33 NTRK1 NTRK2 RET
9 mechanoreceptor differentiation GO:0042490 8.96 NTRK1 NTRK2
10 neurotrophin signaling pathway GO:0038179 8.62 NTRK1 NTRK2

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.58 NTRK1 NTRK2 RET
2 kinase binding GO:0019900 9.54 GFAP MYCN NTRK1
3 MAP kinase kinase kinase activity GO:0004709 9.5 NTRK1 NTRK2 RET
4 mitogen-activated protein kinase kinase binding GO:0031434 9.43 NTRK1 NTRK2 RET
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 NTRK1 NTRK2 RET
6 neurotrophin binding GO:0043121 8.96 NTRK1 NTRK2
7 neurotrophin receptor activity GO:0005030 8.62 NTRK1 NTRK2

Sources for Ganglioneuroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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