{"orpha":93921,"name":"Full schwannomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Full NF3","Full SWN","Full neurofibromatosis type 3","Neurilemmomatosis","Nonmosaic schwannomatosis"],"definition":"A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93921/","orphanet_url":"https://www.orpha.net/en/disease/detail/93921","names":{"fr":{"name":"Schwannomatose germinale","synonyms":["NF3 germinale","Neurilemmomatose","Neurofibromatose type3 germinale","Schwannomatose non mosaïque"],"definition":"Forme rare de neurofibromatose caractérisée par le développement de multiples schwannomes (tumeurs de la gaine nerveuse), sans atteinte des nerfs vestibulaires, et souvent associée à des douleurs chroniques. Des dysesthésies et des paresthésies peuvent également être présentes. Elle est généralement localisée dans la moelle épinière, les nerfs périphériques et le crâne."},"de":{"name":"Schwannomatose","synonyms":["NF3","Neurilemmomatose","Neurofibromatose Typ 3"],"definition":"Eine seltene Form der Neurofibromatose, die durch die Entwicklung multipler Schwannome (Tumore der Nervenscheiden) ohne Beteiligung der vestibulären Nerven gekennzeichnet ist und häufig mit chronischen Schmerzen einhergeht. Auch Dysästhesie und Parästhesie können auftreten. Zu den häufigen Lokalisationen gehören die Wirbelsäule, die peripheren Nerven und der Schädel."},"es":{"name":"Schwannomatosis completa","synonyms":["NF3 completa","Neurilemomatosis","Neurofibromatosis tipo 3 completa","SWN completa","Schwannomatosis sin mosaicismo"],"definition":"Es una forma poco frecuente de neurofibromatosis caracterizada por el desarrollo de múltiples schwannomas (tumores de la vaina nerviosa), sin afectación de los nervios vestibulares y, a menudo, asociada a dolor crónico. También puede manifestar disestesia y parestesia. Las localizaciones más comunes incluyen la columna vertebral, los nervios periféricos y el cráneo."},"it":{"name":"Schwannomatosi completa","synonyms":["NF3 completa","Neurilemmomatosi","Neurofibromatosi completa tipo 3","SWN completa","Schwannomatosi non in mosaico"],"definition":"La neurofibromatosi (NF) tipo 3, nota anche come schwannomatosi, è la forma meno frequente della neurofibromatosi, una malattia genetica rara. Dal punto di vista clinico e genetico, è distinta dalla NF1 e dalla NF2 e si caratterizza per lo sviluppo di schwannomi (tumori della guaina nervosa) multipli senza interessamento dei nervi vestibolari. La NF3 esordisce nell'età adulta e spesso si associa a dolore cronico. Possono essere presenti anche disestesia e parestesia. Di solito si localizza a livello del midollo spinale, dei nervi periferici e del cranio."},"nl":{"name":"Volledige schwannomatose","synonyms":["Neurilemmomatose","Niet-mozaïsche schwannomatose","Volledige NF3","Volledige SWN","Volledige neurofibromatose type 3"],"definition":"Een zeldzame vorm van neurofibromatose, gekenmerkt door ontwikkeling van multipele schwannomen (zenuwschedetumor), zonder betrokkenheid van nervus vestibularis (evenwichtszenuw), en vaak geassocieerd met chronische pijn. Dysesthesie en paresthesie kunnen ook aanwezig zijn. Gangbare locaties zijn wervelkolom, perifere zenuwen, en schedel."},"pt":{"name":"Schwanomatose de espectro clínico completo","synonyms":["NF3 de espectro clínico completo","Neurilemomatose","Neurofibromatose tipo 3 de espectro clínico completo","SWN de espectro clínico completo","Schwanomatose não em mosaico"]},"pl":{"name":"Neurofibromatoza typu 3","synonyms":["Neurilemmomatoza","NF3","Schwannomatoza","Pełna schwannomatoza"],"definition":"Rzadka postać nerwiakowłókniakowatości charakteryzująca się rozwojem licznych guzów o typie schwannoma (guzy osłonek nerwów), bez zajęcia nerwów przedsionkowych, często związana z przewlekłym bólem. Mogą również występować dyzestezje i parestezje. Typowe lokalizacje to kręgosłup, nerwy obwodowe i czaszka."},"cs":{"name":"Neurofibromatóza, typ 3","synonyms":["NF3","Neurilemomatóza","Schwannomatóza"]},"uk":{"name":"Повний шваноматоз","synonyms":["Повний нейрофіброматоз типу 3","Повний NF3","Повний SWN","Нейрилеммоматоз","Немозаїчний шванноматоз"],"definition":"A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium."},"zh":{"name":"神经鞘瘤病","synonyms":["神经纤维瘤病3型"],"definition":"神经纤维瘤病（NF）3型（NF3），又称神经鞘瘤病，是罕见遗传性疾病神经纤维瘤病中发病率最低的一种。它在临床和遗传学上不同于NF1和NF2，其特点是多发性神经鞘瘤，不累及前庭神经。NF3在成年后形成，通常伴慢性疼痛，也可能出现感觉障碍和感觉异常。该病好发部位包括脊柱、周围神经和头盖骨。"},"tr":{"name":"Schwannomatoz","synonyms":["NF3","Nörilemmomatoz","Nörofibromatoz tip 3"]}},"xrefs":[{"source":"OMIM","code":"162091","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"162260","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615670","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008075","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8075","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536641","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779880","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":634518,"name":"Neurofibromatosis/schwannomatosis","classifications":[156,181,202]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"NF2","name":"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23401320[PMID]","hgnc":"7773","ensembl":"ENSG00000186575","omim":"607379","loci":["22q12.2"]},{"symbol":"SMARCB1","name":"SWI/SNF related BAF chromatin remodeling complex subunit B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17357086[PMID]_23401320[PMID]","hgnc":"11103","ensembl":"ENSG00000099956","omim":"601607","loci":["22q11.23"]},{"symbol":"COQ6","name":"coenzyme Q6, monooxygenase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24763291[PMID]","hgnc":"20233","ensembl":"ENSG00000119723","omim":"614647","loci":["14q24.3"]},{"symbol":"LZTR1","name":"leucine zipper like post translational regulator 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24362817[PMID]","hgnc":"6742","ensembl":"ENSG00000099949","omim":"600574","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_ISBN:3211695001[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.058,"area":"Finland","status":"Validated","source":"ISBN:3211695001[OTHER]_10636128[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-06-16","source":"35678462[PMID]_27759912[PMID]_22558206[PMID]_29517885[PMID]","terms":[{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009593","label":"Peripheral schwannoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410275","label":"Lumbosacral hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0033748","label":"Hypoesthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011750","label":"Neoplasm of the anterior pituitary","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009589","label":"Bilateral vestibular schwannoma","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}