{"orpha":100003,"name":"Intraneural perineurioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100003/","orphanet_url":"https://www.orpha.net/en/disease/detail/100003","names":{"fr":{"name":"Périneuriome intraneural","definition":"Tumeur rare des nerfs crâniens et spinaux prenant naissance dans la gaine des nerfs périphériques, composée exclusivement ou principalement de cellules présentant une différenciation périneurale. Elle se manifeste par une hypertrophie localisée, tubulaire ou fusiforme d'un nerf ou d'un segment de nerf, généralement dans les extrémités ou le tronc, associée à une mononeuropathie à prédominance motrice comprenant une perte lente, indolore et progressive de la fonction motrice dans le tronc nerveux concerné avec une faiblesse et une atrophie musculaires et, rarement, des troubles sensoriels. L'atteinte des nerfs crâniens est rare."},"de":{"name":"Perineuriom, intraneurales","definition":"Das intraneurale Perineuriom ist ein seltener Tumor der Hirn- und Spinalnerven, der aus dem peripheren Nervenblatt entsteht und ausschließlich oder überwiegend aus Zellen besteht, die eine perineurale Differenzierung aufweisen. Es präsentiert sich als lokalisierte, röhren- oder fusiforme Vergrößerung eines Nervs oder eines Nervensegments, meist in den Extremitäten oder im Rumpf, verbunden mit einer motorisch dominierten Mononeuropathie, einschließlich eines langsamen, schmerzlosen, allmählichen Verlusts der motorischen Funktion im betroffenen Nervenstamm mit Muskelschwäche und -atrophie und, selten, sensorischer Dysfunktion. Eine Hirnnervenbeteiligung ist selten."},"es":{"name":"Perineurioma intraneural","definition":"Es un tumor poco frecuente de los nervios craneales y espinales que se origina en la vaina nerviosa periférica y se compone exclusiva- o predominantemente de células que muestran diferenciación perineural. Se presenta como un ensanchamiento localizado, tubular o fusiforme de un nervio o segmento de nervio, generalmente en las extremidades o el tronco, asociado a una mononeuropatía predominantemente motora que incluye una pérdida lenta, indolora y gradual de la función motora en el tronco nervioso afectado, con debilidad muscular y atrofia y, raramente, disfunción sensitiva. La afectación de nervios craneales es infrecuente."},"it":{"name":"Perineurinoma intraneurale","definition":"Il perineuroma intraneurale è una neoplasia rara dei nervi cranici e spinali, che origina dalla guaina dei nervi periferici ed è composto esclusivamente o prevalentemente da cellule con differenziazione perineurale. Si manifesta sotto forma di allargamento localizzato, tubulare o fusiforme, di un nervo o di un suo segmento, di solito alle estremità o nel tronco. Si associa a mononeuropatia prevalentemente motoria, caratterizzata dalla perdita graduale, indolore e a progressione lenta della funzione motoria nel tronco del nervo interessato, associata a debolezza ed atrofia muscolare e, raramente, a disfunzione sensoriale. L'interessamento dei nervi cranici è raro."},"nl":{"name":"Intraneuraal perineurioom","definition":"Intraneuraal perineurioom is een zeldzame tumor van craniale en spinale zenuwen die ontstaat uit perifere zenuwscheden en bestaat exclusief of voornamelijk uit cellen die perineuriale differentiatie vertonen. Het presenteert zich als een gelokaliseerde, tubulaire of fusiforme vergroting van een zenuw of zenuwsegment, meestal in de ledematen of de romp, geassocieerd met een overwegend motorische mononeuropathie, met onder meer traag, pijnloos, gradueel verlies van motorische functie in de betrokken zenuwstam, spierzwakte en -atrofie en, zelden, sensorische disfunctie. Betrokkenheid van hersenzenuwen komt maar zelden voor."},"pt":{"name":"Perineurioma intraneural"},"pl":{"name":"Guz okołonerwowy / Onerwiak śródnerwowy"},"cs":{"name":"Intraneurální perineuriom"},"uk":{"name":"Інтраневральна периневріома","definition":"Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare."},"zh":{"name":"神经内神经鞘瘤","definition":"神经内神经束膜瘤是一种罕见的脑神经和脊神经肿瘤，起源于周围神经鞘，仅由或主要由显示神经周围分化的细胞组成。它表现为神经或神经节段局限性的管状或梭形增大，通常位于四肢或躯干，与运动性单神经病变相关，包括受累神经干缓慢、无痛、逐渐丧失运动功能并伴有肌肉无力和萎缩，极少数情况下还有感觉功能障碍。颅神经受累很少见。"},"tr":{"name":"İntranöral perinörom"}},"xrefs":[{"source":"ICD-10","code":"D36.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"362421359"},{"source":"ICD-11","code":"XH4BQ8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1727229828"},{"source":"MONDO","code":"0015032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1370658","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10921","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":85102,"name":"Perineurioma","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":172.0,"area":"Worldwide","status":"Validated","source":"34284162[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34284162[PMID]_ORPHANET"}],"phenotypes":null}