MCID: OPT007
MIFTS: 41

Optic Nerve Glioma

Categories: Cancer diseases, Eye diseases, Neuronal diseases
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Aliases & Classifications for Optic Nerve Glioma

MalaCards integrated aliases for Optic Nerve Glioma:

Name: Optic Nerve Glioma 11 5 43 14 71 75
Glioma of the Optic Nerve 11

Classifications:



External Ids:

Disease Ontology 11 DOID:4992
MeSH 43 D020339
NCIt 49 C4537
SNOMED-CT 68 254976006
UMLS 71 C0346326

Summaries for Optic Nerve Glioma

MalaCards based summary: Optic Nerve Glioma, also known as glioma of the optic nerve, is related to neurofibromatosis and optic nerve sheath meningioma. An important gene associated with Optic Nerve Glioma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Disease and RAF/MAP kinase cascade. The drugs Peginterferon alfa-2b and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are nervous system and growth/size/body region

Wikipedia: 75 Optic nerve glioma (or optic glioma), a form of glioma which affects the optic nerve, is often one of... more...

Related Diseases for Optic Nerve Glioma

Diseases related to Optic Nerve Glioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis 31.2 SPRED1 NF2 NF1
2 optic nerve sheath meningioma 30.4 NF2 NF1
3 orbital cancer 30.4 NF2 NF1 ENO2
4 neuroma 30.3 NF2 NF1 ENO2
5 neurilemmoma 30.2 NF2 NF1 ENO2
6 neurofibroma 30.2 SPRED1 NF2 NF1
7 pilocytic astrocytoma 30.1 OLIG2 NF1 KIAA1549 IDH1 FAM131B
8 juvenile pilocytic astrocytoma 30.0 NF1 KIAA1549 IDH1
9 anaplastic astrocytoma 30.0 OLIG2 NF1 KIAA1549 IDH1
10 plexiform neurofibroma 29.8 SPRED1 NFIC NF2 NF1
11 oligodendroglioma 29.8 OLIG2 NF1 IDH1 ENO2
12 meningioma, familial 29.7 SPRED1 OLIG2 NF2 NF1 KIAA1549 IDH1
13 cerebellar astrocytoma 29.7 NF1 KIAA1549 IDH1 FAM131B
14 fibrillary astrocytoma 29.7 NF1 KIAA1549 IDH1 FAM131B
15 diffuse astrocytoma 29.6 OLIG2 NF1 KIAA1549 IDH1 FAM131B
16 brain cancer 29.6 OLIG2 NF2 NF1 IDH1 ENO2
17 neurofibromatosis, type i 29.5 SPRED1 NFIC NF2 NF1 MTOR KIAA1549
18 pilomyxoid astrocytoma 29.4 OLIG2 NF1 KIAA1549 IDH1 FAM131B
19 glioblastoma 29.1 SETD2 OLIG2 NF2 NF1 MTOR IDH1
20 low grade glioma 28.9 OLIG2 NF1 MTOR KIAA1549 IDH1 FAM131B
21 optic nerve neoplasm 27.2 SPRED1 SCARNA20 OLIG2 NFIC NF2 NF1
22 childhood optic nerve glioma 11.5
23 neurofibromatosis-noonan syndrome 11.3
24 glioma susceptibility 1 11.0
25 glioma 11.0
26 glial tumor 11.0
27 optic pathway glioma 10.3
28 pacinian tumor 10.3 NF1 ENO2
29 epithelioid neurofibroma 10.3 NF2 NF1
30 epithelioid malignant peripheral nerve sheath tumor 10.3 NF1 ENO2
31 peripheral nerve schwannoma 10.3 NF2 NF1
32 malignant triton tumor 10.3 NF1 ENO2
33 neurilemmoma of the fifth cranial nerve 10.3 NF2 NF1
34 small intestine leiomyoma 10.3 NF2 NF1
35 trigeminal nerve neoplasm 10.3 NF2 NF1
36 cellular schwannoma 10.3 NF2 NF1
37 horner's syndrome 10.3 NF1 ENO2
38 polyp of corpus uteri 10.3 NF2 NF1
39 atypical neurofibroma 10.3 NF2 NF1
40 meningothelial meningioma 10.3 NF2 ENO2
41 schwannoma of twelfth cranial nerve 10.3 NF2 NF1
42 hypoglossal nerve disease 10.3 NF2 NF1
43 rete ovarii adenoma 10.3 NF2 NF1
44 rete ovarii benign neoplasm 10.3 NF2 NF1
45 clear cell ependymoma 10.2 OLIG2 NF2
46 pulsating exophthalmos 10.2 SPRED1 NF1
47 tanycytic ependymoma 10.2 OLIG2 NF2
48 malignant dermis tumor 10.2 SPRED1 NF1
49 vulvar melanoma 10.2 SPRED1 NF1
50 malignant skin fibrous histiocytoma 10.2 SPRED1 NF1

Graphical network of the top 20 diseases related to Optic Nerve Glioma:



Diseases related to Optic Nerve Glioma

Symptoms & Phenotypes for Optic Nerve Glioma

MGI Mouse Phenotypes related to Optic Nerve Glioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.02 ENO2 IDH1 MIB1 MTOR NF1 NF2
2 growth/size/body region MP:0005378 9.96 ENO2 IDH1 MIB1 MTOR NF1 NF2
3 craniofacial MP:0005382 9.7 ENO2 MIB1 NF1 NF2 NFIC SETD2
4 respiratory system MP:0005388 9.5 ENO2 IDH1 MTOR NF1 NF2 OLIG2
5 skeleton MP:0005390 9.28 IDH1 MIB1 MTOR NF1 NF2 NFIC

Drugs & Therapeutics for Optic Nerve Glioma

Drugs for Optic Nerve Glioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
2
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3 135329020
3
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
4
Vincristine Approved, Investigational Phase 1, Phase 2 2068-78-2, 57-22-7 5978
5
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2 23431961
6
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
7
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
8
Etoposide Approved Phase 2 33419-42-0 36462
9
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
11 Interferon alpha-2 Phase 2
12 Antiviral Agents Phase 2
13 interferons Phase 2
14 Interferon-alpha Phase 2
15 Immunologic Factors Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antimitotic Agents Phase 1, Phase 2
18 topoisomerase I inhibitors Phase 1, Phase 2
19 Anthelmintics Phase 1, Phase 2
20 Antiparasitic Agents Phase 1, Phase 2
21 Angiogenesis Inhibitors Phase 1, Phase 2
22 Tubulin Modulators Phase 1, Phase 2
23 Anticonvulsants Phase 1, Phase 2
24 Antineoplastic Agents, Immunological Phase 1, Phase 2
25 Citrate Phase 1, Phase 2
26 Piperazine citrate Phase 1, Phase 2
27 DMP 777 Phase 1, Phase 2 157341-41-8
28 Endostatins Phase 2
29 Anti-Bacterial Agents Phase 2
30
Etoposide phosphate Phase 2 16760419
31 Antibiotics, Antitubercular Phase 2
32 Liposomal doxorubicin Phase 2
33
Entinostat Investigational Phase 1 209783-80-2 4261
34 Histone Deacetylase Inhibitors Phase 1
35
Dopamine Approved 62-31-7, 51-61-6 681
36 Fluorodeoxyglucose F18
37 Dihydroxyphenylalanine
38 Neurotransmitter Agents
39 Dopamine Agents
40 Fluorides

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Randomized Phase 3 Study of Antineoplastons A10 and AS2-1 vs. Temozolomide in Subjects With Recurrent and / or Progressive Optic Pathway Glioma After Carboplatin or Cisplatin Therapy Withdrawn NCT01260103 Phase 3 Temozolomide;ANP Therapy
2 A Phase II Study Of Pegylated Interferon ALFA-2b in Children With Recurrent or Refractory and Radiographically or Clinically Progressive Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas Completed NCT02343224 Phase 2 Pegylated interferon alpha-2b
3 Phase II Study of Antineoplastons A10 and AS2-1 Infusions in Children With Visual Pathway Glioma Completed NCT00003477 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
4 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
5 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
6 Clinical Study of Modified Carboplatin/Vincristine Chemotherapy Regimen for Visual Function Protection in Children With Optic Pathway Gliomas Recruiting NCT05278715 Phase 2 Carboplatin;Vincristine;Recombinant human endostatin
7 A Pilot Study of Using MRI-Guided Laser Heat Ablation to Induce Disruption of the Peritumoral Blood Brain Barrier to Enhance Delivery and Efficacy of Treatment of Pediatric Brain Tumors Recruiting NCT02372409 Phase 2 Doxorubicin;Etoposide
8 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Active, not recruiting NCT02839720 Phase 2 Selumetinib Sulfate
9 A Phase 1 and Phase II and Re-Treatment Study of AZD6244 for Recurrent or Refractory Pediatric Low Grade Glioma Active, not recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
10 A Phase 1 Study of Entinostat, an Oral Histone Deacetylase Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors, Including CNS Tumors and Lymphoma Completed NCT02780804 Phase 1 Entinostat
11 Pilot Study of [18F] Fluorodeoxyglucose Positron Emission Tomography- Magnetic Resonance Imaging (FDG-PET-MRI) in CNS and Extra-CNS Tumors of Patients With Neurofibromatosis-1 (NF1) Completed NCT01800032
12 Proton Therapy Research Infrastructure- ProTRAIT- Neuro-oncology Recruiting NCT04648462
13 Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1 Active, not recruiting NCT00924196
14 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
15 Feasibility of Autologous Stem Cell Collection and Reinfusion in Newly Diagnosed High Grade Gliomas Withdrawn NCT02976441 Early Phase 1 Temozolomide
16 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Optic Nerve Glioma

Cochrane evidence based reviews: optic nerve glioma

Genetic Tests for Optic Nerve Glioma

Anatomical Context for Optic Nerve Glioma

Organs/tissues related to Optic Nerve Glioma:

MalaCards : Brain, Eye, Cerebellum, Retina

Publications for Optic Nerve Glioma

Articles related to Optic Nerve Glioma:

(show top 50) (show all 321)
# Title Authors PMID Year
1
Gliomas of the Optic Nerve: A SEER-Based Epidemiologic Study. 62
36166806 2022
2
Neovascular Glaucoma in Children: A case series and a review of the literature. 62
35132889 2022
3
Lessons learnt from two interesting cases of malignant optic nerve glioma. 62
35278584 2022
4
A rare MRI finding of NF-1: perineural arachnoidal gliomatosis. 62
35652934 2022
5
Benign optic nerve gliomas in an adult: A case report. 62
36042601 2022
6
An elusive case of malignant optic nerve glioma with a suprasellar mass. 62
35850580 2022
7
Glioma of the optic nerve and chiasm: a case report. 62
35857979 2022
8
Optic Nerve Abnormalities in Morning Glory Disc Anomaly: An MRI Study. 62
34812761 2022
9
A Rare Case of Orbital Adenoid Cystic Carcinoma Mimicking as Optic Nerve Glioma. 62
35836445 2022
10
Cranio-Orbital Approach for Single-Stage En Bloc Resection of Optic Nerve Glioma: Technical Note. 62
35007223 2022
11
[Hypofractionated stereotactic irradiation for optic nerve glioma]. 62
36252196 2022
12
miR-223-3p Regulates NLRP3 to Inhibit Proliferation and Promote Apoptosis of ONG Cells. 62
36238473 2022
13
Recurrent contracted sockets treated with personalized, three-dimensionally printed conformers and buccal grafts. 62
33706571 2022
14
Occurrence of Second Primary Malignancies in Patients With Primary Optic Nerve Gliomas: A Surveillance, Epidemiology, and End Results Analysis. 62
35403153 2021
15
"Pulsating proptosis and heavy eye syndrome precipitated by neurofibromatosis type 1: A case report". 62
34678901 2021
16
Optic Nerve Glioma in Neurofibromatosis: Radiological Clues to Diagnosis in a Young Child. 62
36160611 2021
17
Color-doppler Flow Imaging Might Help Diagnose Optic Nerve Glioma. 62
33612164 2021
18
Acute angle plication of optic nerve glioma as a mechanism of rapidly progressive visual loss. 62
32093512 2021
19
Re: Bhatti et al.: Microcystic macular edema in optic nerve glioma (Ophthalmology. 2020;127:930). 62
32896389 2021
20
Genetic characterization of an aggressive optic nerve pilocytic glioma. 62
33098465 2021
21
Acute post-partum vision loss due to pilocytic astrocytoma. 62
32875164 2020
22
Proptosis due to intraorbital space-occupying lesions in children. 62
32676791 2020
23
Malignant optic nerve glioma in a young woman with 7 year follow up without recurrence. 62
32875146 2020
24
Microcystic Macular Edema in Optic Nerve Glioma. 62
32564817 2020
25
En-Bloc Resection Versus Resection After Evacuation and Suction of the Content for Orbital Optic Nerve Glioma Causing Visual Loss and Disfiguring Proptosis. 62
31917767 2020
26
Visual field fluctuations correlating with the menstrual cycle in a patient with optic pathway glioma. 62
32269049 2020
27
SETD2 Mutation in an Aggressive Optic Nerve Glioma. 62
31697302 2020
28
Visual impairment in children with a brain tumor: a prospective nationwide multicenter study using standard visual testing and optical coherence tomography (CCISS study). 62
31706271 2019
29
Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report. 62
31374061 2019
30
Neurofibromatosis Type 1: A Population-Based Study. 62
31322715 2019
31
Craniofacial Approaches to Pediatric Orbital Tumors. 62
30865111 2019
32
A giant dermoid cyst of the orbit. 62
29589985 2019
33
Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma. 62
30741560 2019
34
Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. 62
29294511 2018
35
Isolated Optic Nerve Glioma in Children With and Without Neurofibromatosis: Retrospective Characterization and Analysis of Outcomes. 62
29502465 2018
36
Progressive optic nerve glioma: orbital biopsy technique using a surgical navigation system. 62
29426453 2018
37
Lateral canthotomy orbitotomy: a rapid approach to the orbit. 62
28862259 2018
38
Transtentorial dissemination of optic nerve glioblastoma: case report. 62
28298017 2018
39
Phase I Study of the BRAF Inhibitor Vemurafenib in Combination With the Mammalian Target of Rapamycin Inhibitor Everolimus in Patients With BRAF-Mutated Malignancies. 62
32913986 2018
40
Neurological comorbidity in children with neurofibromatosis type 1. 62
28796925 2018
41
Isolated optic nerve gliomas: a multicenter historical cohort study. 62
28984541 2017
42
Morning glory disc anomaly with an ipsilateral enlargement of the optic nerve pathway. 62
28666648 2017
43
Childhood Optic Nerve Glioma: Vision Loss Due to Biopsy. 62
27046034 2017
44
Increased Tissue Stiffness in Tumors from Mice with Neurofibromatosis-1 Optic Glioma. 62
28445745 2017
45
Revascularization in a 17-Year-Old Girl with Neurofibromatosis and Severe Hypertension Caused by Renal Artery Stenosis. 62
28265213 2017
46
Prechiasmatic transection of the optic nerve in optic nerve glioma: technical description and surgical outcome. 62
27230830 2017
47
Optic nerve glioma with complete intraocular extension. 62
27830210 2016
48
Management of a blinding orbital apex cyst in a 14-year-old girl. 62
27397963 2016
49
Orbital tumours and tumour-like lesions: exploring the armamentarium of multiparametric imaging. 62
26518678 2016
50
Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? 62
27976555 2016

Variations for Optic Nerve Glioma

ClinVar genetic disease variations for Optic Nerve Glioma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.1721+3A>G SNV Pathogenic
374108 rs1057518904 GRCh37: 17:29548950-29548950
GRCh38: 17:31221932-31221932
2 NF1 NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs) INDEL Pathogenic
590843 rs1567848147 GRCh37: 17:29554566-29554567
GRCh38: 17:31227548-31227549
3 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic
336 rs137854550 GRCh37: 17:29585518-29585518
GRCh38: 17:31258500-31258500
4 NF1 NM_001042492.3(NF1):c.4577+1G>A SNV Pathogenic
439997 rs1279529138 GRCh37: 17:29587534-29587534
GRCh38: 17:31260516-31260516
5 NF1 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) SNV Pathogenic
188280 rs768638173 GRCh37: 17:29553492-29553492
GRCh38: 17:31226474-31226474
6 ALX4 NM_021926.4(ALX4):c.2T>C (p.Met1Thr) SNV Uncertain Significance
1077147 GRCh37: 11:44331611-44331611
GRCh38: 11:44310061-44310061

Cosmic variations for Optic Nerve Glioma:

8
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149385292 BRAF central nervous system,optic nerve,glioma,NS c.1919T>A p.V640E 7:140753336-140753336 7
2 COSM150563774 BRAF central nervous system,optic nerve,glioma,NS c.1799T>A p.V600E 7:140753336-140753336 7
3 COSM118787231 BRAF central nervous system,optic nerve,glioma,NS c.1799T>A p.V600E 7:140753336-140753336 7
4 COSM88803061 BRAF central nervous system,optic nerve,glioma,NS c.1919T>A p.V640E 7:140753336-140753336 7

Expression for Optic Nerve Glioma

Search GEO for disease gene expression data for Optic Nerve Glioma.

Pathways for Optic Nerve Glioma

Pathways related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 SPRED1 NF1 MTOR MIB1 KIAA1549 IDH1
2
Show member pathways
12.75 SPRED1 NF1 MTOR MIB1 KIAA1549 FAM131B
3
Show member pathways
11.1 SPRED1 NF1 KIAA1549 FAM131B
4 11.06 SETD2 MTOR ENO2
5 10.76 NF2 MTOR

GO Terms for Optic Nerve Glioma

Biological processes related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein kinase activity GO:0006469 9.8 SPRED1 NF2 NF1
2 negative regulation of MAPK cascade GO:0043409 9.63 SPRED1 NF2 NF1
3 negative regulation of Schwann cell proliferation GO:0010626 9.56 NF2 NF1
4 oligodendrocyte differentiation GO:0048709 9.35 OLIG2 NF1 MTOR
5 Schwann cell proliferation GO:0014010 8.92 NF2 NF1

Sources for Optic Nerve Glioma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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