{"orpha":2086,"name":"Optic pathway glioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"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).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2086/","orphanet_url":"https://www.orpha.net/en/disease/detail/2086","names":{"fr":{"name":"Gliome des voies optiques","definition":"Le gliome des voies optiques est une tumeur bénigne qui se développe le long du nerf optique (chiasma, tractus et radiations). Il se caractérise par un trouble ou une perte de la vision, et peut s'accompagner de manifestations diencéphaliques, telles qu'une réduction de la croissance et une altération du cycle du sommeil. Le gliome des voies optiques est souvent lié à une neurofibromatose type 1 (NF1)."},"de":{"name":"Optikusgliom","definition":"Das Optikusgliom (OPG) ist ein gutartiger Tumor, der sich entlang des Sehnervs (Chiasma, Bahnen und Fortsätze) entwickelt und durch eine Beeinträchtigung oder den Verlust des Sehvermögens gekennzeichnet ist. Er kann mit dienzephalen Symptomen wie vermindertem Wachstum und Veränderungen des Schlafverhaltens einhergehen. OPG tritt häufig in Verbindung mit Neurofibromatose Typ 1 (NF1, siehe dort) auf."},"es":{"name":"Glioma de vías ópticas","definition":"Los gliomas de vías ópticas (GVO) son tumores benignos que se desarrollan a lo largo del nervio óptico (quiasma, tractos y radiaciones). Están caracterizados por afectación o pérdida de la visión y pueden asociar síntomas diencefálicos como reducción del crecimiento y alteración en los patrones de sueño. Los GVO suelen estar relacionados con la neurofibromatosis tipo 1 (NF1)."},"it":{"name":"Glioma delle vie ottiche"},"nl":{"name":"Optische banenglioom","definition":"Optische banenglioom (OPG) is een goedaardige tumor die zich ontwikkelt langs de gezichtszenuw (kruising der oogzenuwen, zenuwbanen, en gezichtsstralingen) en gekarakteriseerd wordt door gezichtsstoornissen of -verlies, maar ook gepaard kan gaan met diencephalische symptomen zoals verminderde groeien gewijzigde slaappatronen. OPG's worden vaak geassocieerd met neurofibromatose type 1 (NF1; zie deze term)."},"pt":{"name":"Glioma das vias ópticas"},"pl":{"name":"Glejak nerwu wzrokowego"},"cs":{"name":"Gliom optické dráhy"},"uk":{"name":"Гліома зорового тракту","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)."},"zh":{"name":"视路胶质瘤"},"tr":{"name":"Optik yolak gliomu"}},"xrefs":[{"source":"ICD-10","code":"D33.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A02.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1000103370"},{"source":"MONDO","code":"0016167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796418","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4107","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":95503,"name":"Pituitary hormone deficiency of tumoral origin","classifications":[193]},{"orpha":252057,"name":"Tumor of cranial and spinal nerves","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Worldwide","status":"Not yet validated","source":"22796286[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-16","source":"27082859[PMID]_28847625[PMID]_28984541[PMID]_29246098[PMID]","terms":[{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}