MCID: OPT007
MIFTS: 40

Optic Nerve Glioma

Categories: Cancer diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Optic Nerve Glioma

MalaCards integrated aliases for Optic Nerve Glioma:

Name: Optic Nerve Glioma 12 6 44 15 71
Glioma of the Optic Nerve 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4992
MeSH 44 D020339
NCIt 50 C4537
SNOMED-CT 67 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 spinal meningioma and pilocytic astrocytoma. An important gene associated with Optic Nerve Glioma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Neuroscience and Spinal Cord Injury. The drugs Vincristine and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are Decreased cell migration and behavior/neurological

Wikipedia : 74 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 299)
# Related Disease Score Top Affiliating Genes
1 spinal meningioma 30.7 NF2 NF1
2 pilocytic astrocytoma 30.6 S100B NF1 NES GFAP
3 malignant astrocytoma 30.4 VIM S100B NF1 NES GFAP
4 secretory meningioma 30.2 VIM NF2 MUC1
5 optic nerve sheath meningioma 30.2 NF2 NF1
6 ganglioglioma 29.7 S100B NF1 NES GFAP ENO2
7 oligodendroglioma 29.7 S100B NF1 MBP GFAP ENO2
8 chondrosarcoma 29.6 VIM S100B MUC1 ENO2
9 meningioma, familial 29.5 VIM S100B NF2 NF1 MUC1 GFAP
10 neuroma 29.3 S100B NF2 NF1 MUC1 GFAP ENO2
11 plexiform neurofibroma 29.2 S100B NFIC NF2 NF1 FABP7
12 neurofibroma 29.2 VIM S100B NF2 NF1 MUC1
13 chordoid meningioma 29.2 VIM S100B NF2 MUC1 GFAP
14 optic nerve neoplasm 29.2 SCARNA20 NFIC NF2 NF1
15 neurofibromatosis, type i 28.8 S100B NFIC NF2 NF1 NES GFAP
16 neurilemmoma 28.2 VIM S100B NF2 NF1 NES MUC1
17 childhood optic nerve glioma 11.5
18 neurofibromatosis-noonan syndrome 11.2
19 glioma 11.0
20 glial tumor 11.0
21 neurofibromatosis 10.7
22 glioma susceptibility 1 10.6
23 exophthalmos 10.5
24 optic nerve astrocytoma 10.4 NF1 ENO2
25 pacinian tumor 10.4 NF1 ENO2
26 anaplastic ganglioglioma 10.4 NES GFAP
27 central nervous system immature teratoma 10.4 NES GFAP
28 skin granular cell tumor 10.3 NF1 ENO2
29 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3 NES MBP
30 cerebellopontine angle primitive neuroectodermal tumor 10.3 GFAP ENO2
31 neonatal hypoxic and ischemic brain injury 10.3 MBP ENO2
32 horner's syndrome 10.3 NF1 ENO2
33 yemenite deaf-blind hypopigmentation syndrome 10.3
34 lymphoplasmacyte-rich meningioma 10.3
35 optic pathway glioma 10.3
36 endobronchial leiomyoma 10.3 GFAP ENO2
37 pilomatrix carcinoma 10.3 MUC1 ENO2
38 chiari malformation 10.3 MBP GFAP
39 sinonasal undifferentiated carcinoma 10.3 MUC1 ENO2
40 bile duct mucinous adenocarcinoma 10.3 MUC1 ENO2
41 spindle cell thymoma 10.3 MUC1 ENO2
42 breast rhabdomyosarcoma 10.3 NES ENO2
43 cerebrovascular benign neoplasm 10.3 GFAP ENO2
44 olfactory nerve neoplasm 10.3 GFAP ENO2
45 cranial nerve malignant neoplasm 10.3 GFAP ENO2
46 middle ear adenoma 10.3 MUC1 ENO2
47 cerebellar medulloblastoma 10.3 GFAP ENO2
48 pineal gland cancer 10.3 GFAP ENO2
49 gangliocytoma 10.3 GFAP ENO2
50 hypertryptophanemia 10.3 NES GFAP

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



Diseases related to Optic Nerve Glioma

Symptoms & Phenotypes for Optic Nerve Glioma

GenomeRNAi Phenotypes related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.62 NF2 VIM

MGI Mouse Phenotypes related to Optic Nerve Glioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 ENO2 FABP7 GFAP MBP NF1 NF2

Drugs & Therapeutics for Optic Nerve Glioma

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

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

Interventional clinical trials:

(show all 15)
# 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 Phase II Study of Antineoplastons A10 and AS2-1 Infusions in Children With Visual Pathway Glioma Completed NCT00003477 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
3 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
4 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
5 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 Recruiting NCT02343224 Phase 2 Pegylated interferon alpha-2b
6 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate
7 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
8 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
9 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 Active, not recruiting NCT02780804 Phase 1 Entinostat
10 Proton Therapy Research Infrastructure- ProTRAIT- Neuro-oncology Recruiting NCT04648462
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) Active, not recruiting NCT01800032
12 Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1 Active, not recruiting NCT00924196
13 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
14 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452
15 Feasibility of Autologous Stem Cell Collection and Reinfusion in Newly Diagnosed High Grade Gliomas Withdrawn NCT02976441 Early Phase 1 Temozolomide

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

MalaCards organs/tissues related to Optic Nerve Glioma:

40
Brain, Eye, Cerebellum, Retina

Publications for Optic Nerve Glioma

Articles related to Optic Nerve Glioma:

(show top 50) (show all 304)
# Title Authors PMID Year
1
Acute angle plication of optic nerve glioma as a mechanism of rapidly progressive visual loss. 61
32093512 2021
2
Re: Bhatti et al.: Microcystic macular edema in optic nerve glioma (Ophthalmology. 2020;127:930). 61
32896389 2021
3
Genetic characterization of an aggressive optic nerve pilocytic glioma. 61
33098465 2021
4
Acute post-partum vision loss due to pilocytic astrocytoma. 61
32875164 2020
5
Proptosis due to intraorbital space-occupying lesions in children. 61
32676791 2020
6
Malignant optic nerve glioma in a young woman with 7 year follow up without recurrence. 61
32875146 2020
7
En-Bloc Resection Versus Resection After Evacuation and Suction of the Content for Orbital Optic Nerve Glioma Causing Visual Loss and Disfiguring Proptosis. 61
31917767 2020
8
Microcystic Macular Edema in Optic Nerve Glioma. 61
32564817 2020
9
Visual field fluctuations correlating with the menstrual cycle in a patient with optic pathway glioma. 61
32269049 2020
10
SETD2 Mutation in an Aggressive Optic Nerve Glioma. 61
31697302 2019
11
Visual impairment in children with a brain tumor: a prospective nationwide multicenter study using standard visual testing and optical coherence tomography (CCISS study). 61
31706271 2019
12
Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report. 61
31374061 2019
13
Neurofibromatosis Type 1: A Population-Based Study. 61
31322715 2019
14
Craniofacial Approaches to Pediatric Orbital Tumors. 61
30865111 2019
15
A giant dermoid cyst of the orbit. 61
29589985 2019
16
Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma. 61
30741560 2019
17
Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. 61
29294511 2018
18
Isolated Optic Nerve Glioma in Children With and Without Neurofibromatosis: Retrospective Characterization and Analysis of Outcomes. 61
29502465 2018
19
Progressive optic nerve glioma: orbital biopsy technique using a surgical navigation system. 61
29426453 2018
20
Transtentorial dissemination of optic nerve glioblastoma: case report. 61
28298017 2018
21
Lateral canthotomy orbitotomy: a rapid approach to the orbit. 61
28862259 2018
22
Phase I Study of the BRAF Inhibitor Vemurafenib in Combination With the Mammalian Target of Rapamycin Inhibitor Everolimus in Patients With BRAF-Mutated Malignancies. 61
32913986 2018
23
Neurological comorbidity in children with neurofibromatosis type 1. 61
28796925 2018
24
Isolated optic nerve gliomas: a multicenter historical cohort study. 61
28984541 2017
25
Morning glory disc anomaly with an ipsilateral enlargement of the optic nerve pathway. 61
28666648 2017
26
Childhood Optic Nerve Glioma: Vision Loss Due to Biopsy. 61
27046034 2017
27
Increased Tissue Stiffness in Tumors from Mice with Neurofibromatosis-1 Optic Glioma. 61
28445745 2017
28
Revascularization in a 17-Year-Old Girl with Neurofibromatosis and Severe Hypertension Caused by Renal Artery Stenosis. 61
28265213 2017
29
Prechiasmatic transection of the optic nerve in optic nerve glioma: technical description and surgical outcome. 61
27230830 2017
30
Optic nerve glioma with complete intraocular extension. 61
27830210 2016
31
Management of a blinding orbital apex cyst in a 14-year-old girl. 61
27397963 2016
32
Orbital tumours and tumour-like lesions: exploring the armamentarium of multiparametric imaging. 61
26518678 2016
33
Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? 61
27976555 2016
34
Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. 61
27257370 2016
35
[Chiasm and optic nerve glioma manifested as hemorrhage (two clinical cases and a literature review)]. 61
28635693 2016
36
Optic disc drusen associated with optic nerve tumors. 61
25811268 2015
37
Teaching neuroimages: optic nerve glioma with perineural arachnoid gliomatosis in a patient with neurofibromatosis-1. 61
25825471 2015
38
[Apropos of 5 cases of optic nerve tumors diagnosed during a 6-year-period]. 61
25542442 2015
39
ISCHEMIC RETINOPATHY IN NEUROFIBROMATOSIS TYPE 1. 61
26252734 2015
40
[Clinical feature of chronic compressive optic neuropathy without optic atrophy]. 61
25619179 2014
41
Optic nerve glioma: case series with review of clinical, radiologic, molecular, and histopathologic characteristics. 61
24762952 2014
42
Optic nerve glioma: an update. 61
24736941 2014
43
Anisometropia in children with neurofibromatosis type 1 and unilateral optic nerve glioma. 61
24924279 2014
44
Long-term visual outcomes in patients with orbitotemporal neurofibromatosis. 61
23926960 2014
45
Concomitant meningioma and glioma within the same optic nerve in neurofibromatosis type 1. 61
23420652 2014
46
Aggressive Low-Grade Optic Nerve Glioma in Adults. 61
27928317 2014
47
Optic nerve glioma: A great mimicker. 61
24575324 2014
48
[Optic nerve glioma revealed a divergent strabismus]. 61
25309656 2014
49
An 80-year experience with optic nerve glioma cases at the Armed Forces Institute of Pathology: evolution from museum to molecular evaluation suggests possibe interventions in the cellular senescence and microglial pathways (an American Ophthalmological Society thesis). 61
25411512 2014
50
Phase I study of bevacizumab plus irinotecan in pediatric patients with recurrent/refractory solid tumors. 61
24002900 2013

Variations for Optic Nerve Glioma

ClinVar genetic disease variations for Optic Nerve Glioma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) Indel Pathogenic 590843 rs1567848147 17:29554566-29554567 17:31227548-31227549
2 NF1 NM_000267.3(NF1):c.4514+1G>A SNV Pathogenic 439997 rs1279529138 17:29587534-29587534 17:31260516-31260516
3 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) SNV Pathogenic 336 rs137854550 17:29585518-29585518 17:31258500-31258500
4 NF1 NM_000267.3(NF1):c.1721+3A>G SNV Pathogenic 374108 rs1057518904 17:29548950-29548950 17:31221932-31221932
5 NF1 NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) SNV Pathogenic 188280 rs768638173 17:29553492-29553492 17:31226474-31226474

Cosmic variations for Optic Nerve Glioma:

9
# 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 3
2 COSM150563774 BRAF central nervous system,optic nerve,glioma,NS c.1799T>A p.V600E 7:140753336-140753336 3
3 COSM118787231 BRAF central nervous system,optic nerve,glioma,NS c.1799T>A p.V600E 7:140753336-140753336 3
4 COSM88803061 BRAF central nervous system,optic nerve,glioma,NS c.1919T>A p.V640E 7:140753336-140753336 3

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 11.7 S100B NF2 NF1 MBP GFAP FABP7
2 11.51 VIM MBP GFAP
3
Show member pathways
11.37 VIM NES GFAP
4 11.25 VIM S100B NES GFAP FABP7

GO Terms for Optic Nerve Glioma

Cellular components related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.8 VIM NES GFAP

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

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.5 S100B NES MBP
2 intermediate filament organization GO:0045109 9.26 VIM GFAP
3 astrocyte development GO:0014002 9.16 VIM GFAP
4 Bergmann glial cell differentiation GO:0060020 8.96 VIM GFAP
5 intermediate filament-based process GO:0045103 8.62 VIM GFAP

Sources for Optic Nerve Glioma

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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