Optic Nerve Glioma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:4992

MeSH ⁴³ D020339

NCIt ⁴⁹ C4537

SNOMED-CT ⁶⁸ 254976006

UMLS ⁷¹ C0346326

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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...

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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:

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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

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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

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Genetic Tests for Optic Nerve Glioma

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Anatomical Context for Optic Nerve Glioma

Organs/tissues related to Optic Nerve Glioma:

MalaCards : Brain, Eye, Cerebellum, Retina

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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	Dihowm F...Margo CE	36166806	2022
2	Neovascular Glaucoma in Children: A case series and a review of the literature. ⁶²	Nieves-Moreno M...Noval S	35132889	2022
3	Lessons learnt from two interesting cases of malignant optic nerve glioma. ⁶²	Tiong TYV...Sitoh YY	35278584	2022
4	A rare MRI finding of NF-1: perineural arachnoidal gliomatosis. ⁶²	Yazol M...Boyunaga O	35652934	2022
5	Benign optic nerve gliomas in an adult: A case report. ⁶²	Cao Y...Li S	36042601	2022
6	An elusive case of malignant optic nerve glioma with a suprasellar mass. ⁶²	Sun MJ...Tooley AA	35850580	2022
7	Glioma of the optic nerve and chiasm: a case report. ⁶²	Pas CB...Brito AG	35857979	2022
8	Optic Nerve Abnormalities in Morning Glory Disc Anomaly: An MRI Study. ⁶²	Nguyen DT...Robert MP	34812761	2022
9	A Rare Case of Orbital Adenoid Cystic Carcinoma Mimicking as Optic Nerve Glioma. ⁶²	Gu A...Daigavane S	35836445	2022
10	Cranio-Orbital Approach for Single-Stage En Bloc Resection of Optic Nerve Glioma: Technical Note. ⁶²	Fredrickson VL...Couldwell WT	35007223	2022
11	[Hypofractionated stereotactic irradiation for optic nerve glioma]. ⁶²	Zagirov RI...Golanov AV	36252196	2022
12	miR-223-3p Regulates NLRP3 to Inhibit Proliferation and Promote Apoptosis of ONG Cells. ⁶²	Nie L...Wang X	36238473	2022
13	Recurrent contracted sockets treated with personalized, three-dimensionally printed conformers and buccal grafts. ⁶²	Groot A...Hartong DT	33706571	2022
14	Occurrence of Second Primary Malignancies in Patients With Primary Optic Nerve Gliomas: A Surveillance, Epidemiology, and End Results Analysis. ⁶²	Hussain Z...Dihowm F	35403153	2021
15	"Pulsating proptosis and heavy eye syndrome precipitated by neurofibromatosis type 1: A case report". ⁶²	Lai YF...Chien KH	34678901	2021
16	Optic Nerve Glioma in Neurofibromatosis: Radiological Clues to Diagnosis in a Young Child. ⁶²	Patel H...Gulati S	36160611	2021
17	Color-doppler Flow Imaging Might Help Diagnose Optic Nerve Glioma. ⁶²	Chotard G...Lecler A	33612164	2021
18	Acute angle plication of optic nerve glioma as a mechanism of rapidly progressive visual loss. ⁶²	Tooley AA...Kazim M	32093512	2021
19	Re: Bhatti et al.: Microcystic macular edema in optic nerve glioma (Ophthalmology. 2020;127:930). ⁶²	Mahroo OA...Plant GT	32896389	2021
20	Genetic characterization of an aggressive optic nerve pilocytic glioma. ⁶²	Hong CS...Omay SB	33098465	2021
21	Acute post-partum vision loss due to pilocytic astrocytoma. ⁶²	Homer NA...Somogyi M	32875164	2020
22	Proptosis due to intraorbital space-occupying lesions in children. ⁶²	Zahavi A...Goldenberg-Cohen N	32676791	2020
23	Malignant optic nerve glioma in a young woman with 7 year follow up without recurrence. ⁶²	Alabiad CR...Lam BL	32875146	2020
24	Microcystic Macular Edema in Optic Nerve Glioma. ⁶²	Bhatti MT...Chen JJ	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	Mohammad AEA	31917767	2020
26	Visual field fluctuations correlating with the menstrual cycle in a patient with optic pathway glioma. ⁶²	Jacobson A...Bohnsack BL	32269049	2020
27	SETD2 Mutation in an Aggressive Optic Nerve Glioma. ⁶²	Campbell AA...Kazim M	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	Nuijts MA...Imhof SM	31706271	2019
29	Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report. ⁶²	Kim JY...Shin HY	31374061	2019
30	Neurofibromatosis Type 1: A Population-Based Study. ⁶²	Bata BM...Mohney BG	31322715	2019
31	Craniofacial Approaches to Pediatric Orbital Tumors. ⁶²	Kaderbhai J...Dover MS	30865111	2019
32	A giant dermoid cyst of the orbit. ⁶²	Mukherjee B...Desai A	29589985	2019
33	Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma. ⁶²	Eid H...Wilson N	30741560	2019
34	Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. ⁶²	Surchev JK...Marinov M	29294511	2018
35	Isolated Optic Nerve Glioma in Children With and Without Neurofibromatosis: Retrospective Characterization and Analysis of Outcomes. ⁶²	Hamideh D...Qaddoumi I	29502465	2018
36	Progressive optic nerve glioma: orbital biopsy technique using a surgical navigation system. ⁶²	Hussain A...DeAngelis D	29426453	2018
37	Lateral canthotomy orbitotomy: a rapid approach to the orbit. ⁶²	Hamed-Azzam S...Rose GE	28862259	2018
38	Transtentorial dissemination of optic nerve glioblastoma: case report. ⁶²	Mastorakos P...Shaffrey ME	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	Subbiah V...Meric-Bernstam F	32913986	2018
40	Neurological comorbidity in children with neurofibromatosis type 1. ⁶²	Hirabaru K...Matsuo M	28796925	2018
41	Isolated optic nerve gliomas: a multicenter historical cohort study. ⁶²	Shofty B...Isolated Optic Nerve Abnormalities (IONA) Collaboration	28984541	2017
42	Morning glory disc anomaly with an ipsilateral enlargement of the optic nerve pathway. ⁶²	Thoma D...Casteels I	28666648	2017
43	Childhood Optic Nerve Glioma: Vision Loss Due to Biopsy. ⁶²	Revere KE...Liu GT	27046034	2017
44	Increased Tissue Stiffness in Tumors from Mice with Neurofibromatosis-1 Optic Glioma. ⁶²	Walter C...Pathak A	28445745	2017
45	Revascularization in a 17-Year-Old Girl with Neurofibromatosis and Severe Hypertension Caused by Renal Artery Stenosis. ⁶²	Beladan CC...Coman IM	28265213	2017
46	Prechiasmatic transection of the optic nerve in optic nerve glioma: technical description and surgical outcome. ⁶²	Borghei-Razavi H...Schick U	27230830	2017
47	Optic nerve glioma with complete intraocular extension. ⁶²	Eghtedari M...Geramizadeh B	27830210	2016
48	Management of a blinding orbital apex cyst in a 14-year-old girl. ⁶²	Chaha K...Abah ER	27397963	2016
49	Orbital tumours and tumour-like lesions: exploring the armamentarium of multiparametric imaging. ⁶²	Purohit BS...Becker M	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	Tanyildiz HG...Sahin G	27976555	2016

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Genes for Optic Nerve Glioma

Genes related to Optic Nerve Glioma (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NF1	Neurofibromin 1	Protein Coding	408.48	Pathogenic ⁵ DISEASES inferred ¹⁴
2	ENO2	Enolase 2	Protein Coding	11.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	SETD2	SET Domain Containing 2, Histone Lysine Methyltransferase	Protein Coding	10.84	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
4	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	5.92	DISEASES inferred ¹⁴
5	KIAA1549	KIAA1549	Protein Coding	4.96	DISEASES inferred ¹⁴
6	OLIG2	Oligodendrocyte Transcription Factor 2	Protein Coding	4.65	DISEASES inferred ¹⁴
7	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	4.63	DISEASES inferred ¹⁴
8	SCARNA20	Small Cajal Body-Specific RNA 20	RNA Gene	4.62	DISEASES inferred ¹⁴
9	NFIC	Nuclear Factor I C	Protein Coding	4.56	DISEASES inferred ¹⁴
10	FAM131B	Family With Sequence Similarity 131 Member B	Protein Coding	4.47	DISEASES inferred ¹⁴
11	BRINP3	BMP/Retinoic Acid Inducible Neural Specific 3	Protein Coding	4.4	DISEASES inferred ¹⁴
12	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	4.39	DISEASES inferred ¹⁴
13	MIB1	MIB E3 Ubiquitin Protein Ligase 1	Protein Coding	4.37	DISEASES inferred ¹⁴
14	IDH1	Isocitrate Dehydrogenase (NADP(+)) 1	Protein Coding	4.35	DISEASES inferred ¹⁴

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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

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Expression for Optic Nerve Glioma

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

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Pathways for Optic Nerve Glioma

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

#	Super pathways	Score	Top Affiliating Genes
1	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.3	SPRED1 NF1 MTOR MIB1 KIAA1549 IDH1
2	RAF/MAP kinase cascade ⁶⁶ Show member pathways Diseases of signal transduction by growth factor receptors and second messengers ⁶⁶ MAPK family signaling cascades ⁶⁶ MAPK1/MAPK3 signaling ⁶⁶	12.75	SPRED1 NF1 MTOR MIB1 KIAA1549 FAM131B
3	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF1 fusions ⁶⁶	11.1	SPRED1 NF1 KIAA1549 FAM131B
4	Clear cell renal cell carcinoma pathways ⁷⁴	11.06	SETD2 MTOR ENO2
5	ErbB2/ErbB3 signaling events ⁶¹	10.76	NF2 MTOR

Sources

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

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Sources for Optic Nerve Glioma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OPT007 MIFTS: 41	Optic Nerve Glioma Categories: Cancer diseases, Eye diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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