MCID: OPT032
MIFTS: 34

Optic Pathway Glioma

Categories: Endocrine diseases, Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Pathway Glioma

MalaCards integrated aliases for Optic Pathway Glioma:

Name: Optic Pathway Glioma 20 58
Visual Pathway Glioma 70

Characteristics:

Orphanet epidemiological data:

58
optic pathway glioma
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Optic Pathway Glioma

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2086 Definition Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).

MalaCards based summary : Optic Pathway Glioma, also known as visual pathway glioma, is related to neurofibromatosis and neurofibromatosis, type i. An important gene associated with Optic Pathway Glioma is NF1 (Neurofibromin 1). The drugs Peginterferon alfa-2b and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and colon, and related phenotypes are nystagmus and optic atrophy

Related Diseases for Optic Pathway Glioma

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis 30.5 PMS2 NF1 LOC111811965
2 neurofibromatosis, type i 29.8 PMS2 NF1 LOC111811965
3 rhabdomyosarcoma 29.3 PMS2 NF1
4 chromosome 17q11.2 deletion syndrome 11.2
5 glioma 11.0
6 glial tumor 11.0
7 glioma susceptibility 1 10.5
8 malignant astrocytoma 10.5
9 pilocytic astrocytoma 10.4
10 low grade glioma 10.3
11 strabismus 10.3
12 mechanical strabismus 10.3
13 tumor predisposition syndrome 10.3
14 cutaneous telangiectasia and cancer syndrome, familial 10.3
15 inherited cancer-predisposing syndrome 10.3
16 yemenite deaf-blind hypopigmentation syndrome 10.2
17 optic nerve glioma 10.2
18 exophthalmos 10.2
19 precocious puberty 10.2
20 syringomyelia, noncommunicating isolated 10.1
21 scoliosis 10.1
22 suppression amblyopia 10.1
23 amblyopia 10.1
24 hydrocephalus 10.1
25 alternating exotropia 10.1
26 exotropia 10.1
27 high grade glioma 10.1
28 syringomyelia 10.1
29 juvenile pilocytic astrocytoma 10.1
30 intracranial hypertension 10.1
31 diencephalic syndrome 10.1
32 central precocious puberty 10.1
33 low-grade astrocytoma 10.1
34 rare tumor 10.1
35 coloboma of optic nerve 10.0
36 lynch syndrome i 10.0
37 nevus, epidermal 10.0
38 obsessive-compulsive disorder 10.0
39 retinoblastoma 10.0
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
41 3-methylglutaconic aciduria, type iii 10.0
42 retinitis pigmentosa 10.0
43 rhabdomyosarcoma 2 10.0
44 meningioma, familial 10.0
45 deficiency anemia 10.0
46 intracranial meningioma 10.0
47 hypogonadotropic hypogonadism 10.0
48 neuroretinitis 10.0
49 monocular esotropia 10.0
50 neutropenia 10.0

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



Diseases related to Optic Pathway Glioma

Symptoms & Phenotypes for Optic Pathway Glioma

Human phenotypes related to Optic Pathway Glioma:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
2 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
3 neurofibromas 58 31 frequent (33%) Frequent (79-30%) HP:0001067
4 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
5 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
7 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
8 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
9 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
10 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
11 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
13 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
14 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
15 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
16 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
17 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
18 fatigable weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003473
19 papilledema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001085
20 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
21 seizure 31 occasional (7.5%) HP:0001250
22 seizures 58 Occasional (29-5%)
23 reduced visual acuity 58 Frequent (79-30%)
24 abnormality of the nervous system 58 Occasional (29-5%)

Drugs & Therapeutics for Optic Pathway Glioma

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
2
Lenalidomide Approved Phase 2 191732-72-6 216326
3 Interferon alpha-2 Phase 2
4 Anti-Infective Agents Phase 2
5 interferons Phase 2
6 Antiviral Agents Phase 2
7 Interferon-alpha Phase 2
8 Angiogenesis Inhibitors Phase 2
9 Immunologic Factors Phase 2

Interventional clinical trials:


# 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 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
4 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
5 A Phase II Randomized Trial of Lenalidomide (NSC # 703813) in Pediatric Patients With Recurrent, Refractory or Progressive Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas Active, not recruiting NCT01553149 Phase 2 Lenalidomide
6 Ophthalmological Screening and Follow-up of Optic Pathway Gliomas in Children With Neurofibromatosis Type 1. Unknown status NCT02078401
7 Hypotonia as a Clinical Predictor of Optic Pathway Glioma in Children With Neurofibromatosis Type 1 Terminated NCT02584413 Gadolinium contrast

Search NIH Clinical Center for Optic Pathway Glioma

Genetic Tests for Optic Pathway Glioma

Anatomical Context for Optic Pathway Glioma

MalaCards organs/tissues related to Optic Pathway Glioma:

40
Eye, Brain, Colon, Small Intestine, Pituitary, Heart, Tongue

Publications for Optic Pathway Glioma

Articles related to Optic Pathway Glioma:

(show top 50) (show all 234)
# Title Authors PMID Year
1
Early radiotherapy preserves vision in sporadic optic pathway glioma. 61
33739455 2021
2
NF1 optic pathway glioma: analyzing risk factors for visual outcome and indications to treat. 61
32628746 2021
3
Neurofibromatosis Type 1-Associated Optic Pathway Glioma in Children: A Follow-Up of 10 Years or More. 61
32283094 2021
4
Loss of efficacy of subsequent nonsurgical therapy after primary treatment failure in pediatric low-grade glioma patients-Report from the German SIOP-LGG 2004 cohort. 61
32580249 2020
5
Resolving mystery behind autonomous retrogression of low-grade gliomas: A systematic review. 61
33475560 2020
6
Visual function tests including the role of optical coherence tomography in neurofibromatosis 1. 61
32749524 2020
7
Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center. 61
33459286 2020
8
Malignant optic nerve glioma in a young woman with 7 year follow up without recurrence. 61
32875146 2020
9
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature. 61
32806529 2020
10
Nonoptic pathway tumors in children with neurofibromatosis type 1. 61
32300062 2020
11
Intraoperative visual evoked potential monitoring for optic pathway glioma in an infant: A case description. 61
32504939 2020
12
Effect of age and neurofibromatosis type 1 status on white matter integrity in the optic radiations. 61
32642741 2020
13
3 Tesla MRI brain scanning under general anaesthesia in a paediatric 3 Tesla-compatible cochlear implant recipient, first reported case: Clinical considerations and implications for future practice. 61
32229365 2020
14
Optic pathway glioma with intraocular extension in a child with neurofibromatosis type-1. 61
32241588 2020
15
Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1. 61
32486389 2020
16
Visual field fluctuations correlating with the menstrual cycle in a patient with optic pathway glioma. 61
32269049 2020
17
Expanded transnasal approaches to the skull base in the Middle East: Where do we stand? 61
32241167 2020
18
Bevacizumab for optic pathway glioma with worsening visual field in absence of imaging progression: 2 case reports and literature review. 61
31701281 2020
19
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review. 61
31805403 2020
20
Neuropsychological outcomes of children with Optic Pathway Glioma. 61
32094393 2020
21
Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I. 61
32066268 2020
22
Rare Case of Sporadic Malignant Optic Pathway Glioma in 71-Year-Old Woman. 61
31336173 2020
23
Quantitative MRI demonstrates abnormalities of the third ventricle subventricular zone in neurofibromatosis type-1 and sporadic paediatric optic pathway glioma. 61
33038669 2020
24
Predicting pediatric optic pathway glioma progression using advanced magnetic resonance image analysis and machine learning. 61
32885166 2020
25
C6 Cell Injection into the Optic Nerve of Long-Evans Rats: A Short-Term Model of Optic Pathway Gliomas. 61
33356508 2020
26
[Effect of bevacizumab in treatment of children with optic pathway glioma]. 61
31874658 2019
27
Assessment of the visual pathways in patients with neurofibromatosis-1 by 3S-space technique with 3-Tesla MRI 61
31655505 2019
28
Brain Tumors in NF1 Children: Influence on Neurocognitive and Behavioral Outcome. 61
31717965 2019
29
Neurological malignancies in neurofibromatosis type 1. 61
31436563 2019
30
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. 61
31766501 2019
31
Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations. 61
31739524 2019
32
Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1. 61
31189769 2019
33
68Ga-NOTA-Aca-BBN(7-14) PET imaging of GRPR in children with optic pathway glioma. 61
31270559 2019
34
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience. 61
31443616 2019
35
Long-term visual acuity outcomes after radiation therapy for sporadic optic pathway glioma. 61
31414376 2019
36
Newly Diagnosed Optic Pathway Glioma During Pregnancy. 61
30878749 2019
37
Acquired and progressive myelinated retinal nerve fibers in neurofibromatosis type 1. 61
30772473 2019
38
Diagnostic accuracy of neuroimaging in pediatric optic chiasm/sellar/suprasellar tumors. 61
30848081 2019
39
Dural Ectasia of the Optic Nerve: A Rare Presentation in Neurofibromatosis Type I. 61
31001034 2019
40
Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1. 61
30963792 2019
41
Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1. 61
30711963 2019
42
Prevalence of Strabismus Among Children With Neurofibromatosis Type 1 Disease With and Without Optic Pathway Glioma. 61
30371910 2019
43
Neurofibromatosis Type 1: Review and Update on Emerging Therapies. 61
30387339 2019
44
Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. 61
29704429 2019
45
Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. 61
30881378 2019
46
Long-term visual acuity in patients with optic pathway glioma treated during childhood with up-front BB-SFOP chemotherapy-Analysis of a French pediatric historical cohort. 61
30849081 2019
47
NEUROFIBROMATOSIS TYPE 1 AND OPTIC PATHWAY GLIOMA. 61
32397722 2019
48
Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma. 61
30284379 2018
49
Current concepts in radiologic assessment of pediatric brain tumors during treatment, part 1. 61
29980859 2018
50
Endovascular glue embolization of a radiation-induced lenticulostriate artery pseudoaneurysm in a pediatric patient with optic pathway glioma: Case report and review of literature. 61
29848144 2018

Variations for Optic Pathway Glioma

Expression for Optic Pathway Glioma

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

Pathways for Optic Pathway Glioma

GO Terms for Optic Pathway Glioma

Sources for Optic Pathway 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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