MCID: GNG002
MIFTS: 50

Ganglioneuroma

Categories: Neuronal diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Ganglioneuroma

MalaCards integrated aliases for Ganglioneuroma:

Name: Ganglioneuroma 12 55 28 51 14 69

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4817
NCIt 46 C42065
Orphanet 55 ORPHA251992
UMLS via Orphanet 70 C0017075
ICD10 via Orphanet 33 D36.1
UMLS 69 C1513025

Summaries for Ganglioneuroma

MalaCards based summary : Ganglioneuroma is related to cutaneous ganglioneuroma and gangliocytoma, and has symptoms including multiple intestinal neurofibromatosis, abnormality of the mediastinum and colorectal polyposis. An important gene associated with Ganglioneuroma is SYP (Synaptophysin), and among its related pathways/superpathways are Neuroscience and Tyrosine Kinases / Adaptors. The drugs Bevacizumab and Irinotecan have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, colon and bone, and related phenotypes are Increased cell viability after pRB stimulation and behavior/neurological

Related Diseases for Ganglioneuroma

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

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 cutaneous ganglioneuroma 33.4 ENO2 NCAM1 SYP
2 gangliocytoma 32.2 GFAP SYP
3 neuroblastoma 30.3 ENO2 MYCN NCAM1 NTRK1 NTRK2 SYP
4 cystic teratoma 29.7 ENO2 GFAP SYP
5 teratoma 29.7 ENO2 GFAP SYP
6 paraganglioma 29.4 CHGA ENO2 RET SYP
7 pheochromocytoma 29.0 CHGA ENO2 NTRK1 RET SYP VIP
8 ganglioneuroblastoma 28.8 ENO2 GALP MYCN NTRK1 NTRK2 SYP
9 olfactory neuroblastoma 28.8 CHGA ENO2 NTRK1 SYP
10 multiple endocrine neoplasia, type i 28.7 CHGA RET SYP VIP
11 thyroid carcinoma, familial medullary 28.5 CHGA ENO2 NTRK1 RET
12 multiple endocrine neoplasia, type iib 11.5
13 central hypoventilation syndrome, congenital 11.2
14 multiple endocrine neoplasia, type iia 10.9
15 appendix adenocarcinoma 10.9
16 malignant sertoli cell tumor 10.4 ENO2 SYP
17 sinonasal undifferentiated carcinoma 10.4 ENO2 SYP
18 sensory organ benign neoplasm 10.4 ENO2 SYP
19 middle ear adenoma 10.4 ENO2 SYP
20 pancreatic somatostatinoma 10.4 ENO2 SYP
21 papillary tumor of the pineal region 10.4 ENO2 SYP
22 ovarian carcinosarcoma 10.4 ENO2 SYP
23 cerebellum cancer 10.4 ENO2 SYP
24 extraventricular neurocytoma 10.4 GFAP SYP
25 extraosseous chondrosarcoma 10.4 ENO2 SYP
26 malignant teratoma 10.4 ENO2 SYP
27 subcortical arteriosclerotic encephalopathy 10.4 GFAP VIP
28 mucinous ovarian cystadenoma 10.4 ENO2 SYP
29 rhabdoid meningioma 10.4 GFAP SYP
30 pilomyxoid astrocytoma 10.4 GFAP SYP
31 chiari malformation 10.4 GFAP SYP
32 bone benign neoplasm 10.4 ENO2 SYP
33 dysembryoplastic neuroepithelial tumor 10.4 GFAP SYP
34 meningeal melanomatosis 10.4 ENO2 SYP
35 extraskeletal ewing sarcoma 10.4 ENO2 SYP
36 anaplastic ependymoma 10.4 GFAP SYP
37 angiocentric glioma 10.4 GFAP SYP
38 obstructive hydrocephalus 10.4 GFAP SYP
39 medulloepithelioma 10.4 GFAP SYP
40 connective tissue benign neoplasm 10.4 ENO2 SYP
41 glomus tumor 10.3 ENO2 SYP
42 intraocular retinoblastoma 10.3 ENO2 SYP
43 pancreatic endocrine carcinoma 10.3 NCAM1 SYP
44 mixed cell type cancer 10.3 ENO2 SYP
45 pineoblastoma 10.3 GFAP SYP
46 childhood oligodendroglioma 10.3 GFAP SYP
47 intracranial cysts 10.3 ENO2 GFAP
48 primitive neuroectodermal tumor of the cervix uteri 10.3 ENO2 GFAP
49 pineal parenchymal tumor of intermediate differentiation 10.3 ENO2 SYP
50 melanotic medulloblastoma 10.3 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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ganglioneuroma 55 31 obligate (100%) Obligate (100%) HP:0003005
2 multiple intestinal neurofibromatosis 55 31 frequent (33%) Frequent (79-30%) HP:0005220
3 abnormality of the mediastinum 55 31 frequent (33%) Frequent (79-30%) HP:0045026
4 colorectal polyposis 55 31 frequent (33%) Frequent (79-30%) HP:0200063
5 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
6 episodic abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002574
7 hamartomatous polyposis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004390
8 functional intestinal obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0005249
9 neoplasm of the adrenal gland 55 31 occasional (7.5%) Occasional (29-5%) HP:0100631
10 abnormality of the orbital region 55 31 very rare (1%) Very rare (<4-1%) HP:0000315
11 gastrointestinal hemorrhage 55 31 very rare (1%) Very rare (<4-1%) HP:0002239
12 abnormal bone structure 55 31 very rare (1%) Very rare (<4-1%) HP:0003330
13 central hypoventilation 55 31 very rare (1%) Very rare (<4-1%) HP:0007110
14 abnormality of the prostate 55 31 very rare (1%) Very rare (<4-1%) HP:0008775
15 abnormality of the adrenal glands 55 Frequent (79-30%)
16 abnormality of the rectum 55 Very rare (<4-1%)

UMLS symptoms related to Ganglioneuroma:


seizures

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

25
# 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:

43
# 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 NCAM1 NTRK1 NTRK2 RET SYP ENO2
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 8)
# 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:


# Name Status NCT ID Phase Drugs
1 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors Completed NCT01999270 Phase 1 Irinotecan;Bevacizumab
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 Ganglioneuroma

Genetic Tests for Ganglioneuroma

Genetic tests related to Ganglioneuroma:

# Genetic test Affiliating Genes
1 Ganglioneuroma 28

Anatomical Context for Ganglioneuroma

MalaCards organs/tissues related to Ganglioneuroma:

38
Adrenal Gland, Colon, Bone, Prostate, Spinal Cord, Pituitary, Skin

Publications for Ganglioneuroma

Articles related to Ganglioneuroma:

(show top 50) (show all 608)
# Title Authors Year
1
Massive thoracic ganglioneuroma with significant mass effect on left hemithorax. ( 29437731 )
2018
2
Simultaneous Presentation of Wilms' Tumor and Contralateral Ganglioneuroma in a Child: Case Report and Literature Review. ( 29334535 )
2018
3
Cervical ganglioneuroma: clinical and radiological features of a rare tumour. ( 29326343 )
2018
4
Adrenal Ganglioneuroma: Features and Outcomes of 42 Cases in a Chinese Population. ( 29383425 )
2018
5
Characteristics and management of ganglioneuroma and ganglioneuroblastoma-intermixed in children and adolescents. ( 29369484 )
2018
6
Lingual ganglioneuroma in a dog. ( 29367496 )
2018
7
Synchronous Ganglioneuroma and Schwannoma Mistaken for Carotid Body Tumor. ( 29147595 )
2017
8
Ganglioneuroma of the Sacrum. ( 29017308 )
2017
9
Robotic assisted laparoscopic excision of a retroperitoneal Ganglioneuroma. ( 28537695 )
2017
10
De Novo Tumors of Teratoma: Ganglioneuroma Arising From a Mature Cystic Teratoma of the Ovary. ( 28700440 )
2017
11
Excision of a Presacral Ganglioneuroma in a Young Man. ( 28738920 )
2017
12
Every polyp is not an adenoma: Ganglioneuroma of the colon. ( 29198570 )
2017
13
Case report: Robot-assisted laparoscopic excision of giant ganglioneuroma of the adrenal gland. ( 28748502 )
2017
14
Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma. ( 28868283 )
2017
15
Ganglioneuroma of the Neck: A case report. ( 29148641 )
2017
16
Trigeminal Ganglioneuroma in the Middle-posterior Cranial Fossa: a Case Report. ( 28693694 )
2017
17
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
18
Images in Endocrine Pathology: Unique Composite Adrenal Adenomatoid Tumor, Ganglioneuroma, Myelolipoma, and Cortical Nodular Hyperplasia. ( 28382483 )
2017
19
Retroperitoneal Ganglioneuroma Mimicking a Kidney Tumor. Case Report. ( 28607627 )
2017
20
Adrenal ganglioneuroma: What you need to know. ( 29085827 )
2017
21
Surgical management and outcomes of ganglioneuroma and ganglioneuroblastoma-intermixed. ( 28608056 )
2017
22
Harlequin Syndrome Following Resection of Mediastinal Ganglioneuroma. ( 28382275 )
2017
23
Adrenal ganglioneuroma: The Padua Endocrine Surgery Unit experience. ( 28506406 )
2017
24
Giant Ganglioneuroma in a 5-Year Child. ( 28302232 )
2017
25
Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report. ( 28760150 )
2017
26
Chylothorax after mediastinal ganglioneuroma resection treated with fibrin sealant patch: a case report. ( 29221335 )
2017
27
Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: A Clinicopathologic Study of Eight Cases with Analysis of Succinate Dehydrogenase. ( 28752484 )
2017
28
Appendiceal ganglioneuroma in neurofibromatosis type 2. ( 28578246 )
2017
29
Giant Ganglioneuroma of Thoracic Spine: A Case Report and Review of Literature. ( 28490166 )
2017
30
Ganglioneuroma of the retropharyngeal space in a patient with glottic cancer. ( 28882936 )
2017
31
Intrathoracic ganglioneuroma presenting as an endobronchial mass. ( 28879079 )
2017
32
Ganglioneuroma of the External Auditory Canal and Middle Ear. ( 28875046 )
2017
33
Colonic Ganglioneuroma: A Rare Finding during Colorectal Cancer Screening. ( 29033760 )
2017
34
A Case Report of Giant Adrenal Ganglioneuroma. ( 28443238 )
2017
35
Trigeminal Ganglioneuroma: A rare cause of trigeminal neuralgia caused by cerebello-pontine angle tumor. ( 28043883 )
2016
36
Tips to facilitate a preoperative diagnosis of adrenal ganglioneuroma. Report of a challenging experience and review of the literature. ( 27595615 )
2016
37
A case of pediatric parapharyngeal space ganglioneuroma. ( 27140023 )
2016
38
Extradural ganglioneuroma with T1-T2 involvement mimicking spondylodiscitis: a case report and a review of the literature. ( 27813619 )
2016
39
Advanced MRI manifestations of trigeminal ganglioneuroma: a case report and literature review. ( 27576442 )
2016
40
Organ Preservation in a Case of Retroperitoneal Ganglioneuroma: A Case Report and Review of Literature. ( 27668117 )
2016
41
Adrenal ganglioneuroma in a pregnant woman. ( 27364185 )
2016
42
Ganglioneuroma of the pancreas in a 4-year-old girl. ( 27873762 )
2016
43
What Do We Need to Know About Colonic Polypoid Ganglioneuroma? A Case Report and A Comprehensive Review. ( 27888390 )
2016
44
Role of radiotherapy in adult ganglioneuroblastoma and ganglioneuroma. ( 27569100 )
2016
45
Retroperitoneal paravertebral ganglioneuroma: a multidisciplinary approach facilitates less radical surgery. ( 27461001 )
2016
46
Adrenal Collision Tumor: Coexistence of Pigmented Adrenal Cortical Oncocytoma and Ganglioneuroma. ( 28053800 )
2016
47
Thoracolumbar paravertebral giant ganglioneuroma and scoliosis: a case report and literature review. ( 26946494 )
2016
48
Spontaneous Maturation of Neuroblastoma to Ganglioneuroma: Two Case Studies. ( 27362946 )
2016
49
Ganglioneuroma of the lumbar spine presenting with scoliosis in a 7-year-old child. ( 27012649 )
2016
50
Treatment and outcome of Ganglioneuroma and Ganglioneuroblastoma intermixed. ( 27465021 )
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 11.66 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 9.58 NCAM1 NTRK1 RET
2 peptidyl-tyrosine phosphorylation GO:0018108 9.54 NTRK1 NTRK2 RET
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.43 NTRK1 NTRK2 RET
4 positive regulation of neuron projection development GO:0010976 9.33 NTRK1 NTRK2 RET
5 innervation GO:0060384 9.32 NTRK1 RET
6 mechanoreceptor differentiation GO:0042490 8.96 NTRK1 NTRK2
7 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 9.5 NTRK1 NTRK2 RET
2 kinase binding GO:0019900 9.43 GFAP MYCN NTRK1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 NTRK1 NTRK2 RET
4 neurotrophin binding GO:0043121 8.96 NTRK1 NTRK2
5 neurotrophin receptor activity GO:0005030 8.62 NTRK1 NTRK2

Sources for Ganglioneuroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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