{"orpha":634492,"name":"Mosaic schwannomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MNF3","Mosaic SWN","Mosaic neurilemmomatosis","Mosaic neurofibromatosis type 3"],"definition":"A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-634492/","orphanet_url":"https://www.orpha.net/en/disease/detail/634492","names":{"fr":{"name":"Schwannomatose mosaïque","synonyms":["NF3 mosaïque","Neurilemmomatose mosaïque","Neurofibromatose 3 mosaïque","Neurofibromatose type 3 mosaïque","SWN mosaïque"],"definition":"Forme mosaïque rare de schwannomatose caractérisée par des signes typiques de la schwannomatose, à savoir de multiples tumeurs bénignes de la gaine du nerf appelées schwannomes. La forme mosaïque est causée par des variants pathogènes postzygotes de <i>SMARCB1</i> ou de <i>LZTR1</i>. Dans la schwannomatose mosaïque, la répartition allélique/tissulaire du variant pathogène pointe clairement vers un mosaïcisme. Le phénotype peut être plus léger que dans la schwannomatose."},"de":{"name":"Mosaik-Schwannomatose","synonyms":["MNF3","Mosaik-Neurilemmomatose","Mosaik-Neurofibromatose Typ 3","Mosaik-SWN"],"definition":"Eine seltene Mosaikform der Schwannomatose, die durch die für die Schwannomatose typischen Befunde gekennzeichnet ist, nämlich multiple gutartige Nervenscheidentumore, die Schwannome genannt werden. Die Mosaikform wird durch postzygotische pathogene Varianten in den Genen <i>SMARCB1</i> oder <i>LZTR1</i> verursacht. Bei der Mosaik- Schwannomatose lässt die Allel-/Gewebeverteilung der pathogenen Variante eindeutig auf einen Mosaik-Zustand schließen. Der Phänotyp kann milder sein als bei der Schwannomatose."},"es":{"name":"Schwannomatosis en mosaico","synonyms":["MNF3","Neurilemomatosis en mosaico","Neurofibromatosis tipo 3 en mosaico","SWN en mosaico"],"definition":"Es una forma en mosaico de la schwannomatosis, poco frecuente, caracterizada por hallazgos típicos de la schwannomatosis, como múltiples tumores benignos de la vaina nerviosa denominados schwannomas. La forma en mosaico está causada por variantes patogénicas poscigóticas de <i>SMARCB1</i> o de <i>LZTR1</i>. En la schwannomatosis en mosaico, la distribución alélica/tisular de la variante patogénica sugiere claramente mosaicismo. El fenotipo puede ser más leve que en la schwannomatosis."},"it":{"name":"Schwannomatosi in mosaico","synonyms":["MNF3","Neurilemmomatosi in mosaico","Neurofibromatosi in mosaico tipo 3","SWN in mosaico"]},"nl":{"name":"Mozaïek schwannomatose","synonyms":["Mozaïek neurilemmomatose","Mozaïek neurofibromatose type 3","MNF3","Mozaïek SWN"],"definition":"Een zeldzame mozaïsche vorm van schwannomatose, gekenmerkt door typische bevindingen van schwannomatose, met name meervoudige goedaardige zenuwschedetumoren gekend als schwannomen. De mozaïsche vorm wordt veroorzaakt door postzygotische pathogene varianten in <i>SMARCB1</i> of <i>LZTR1</i>. Bij mozaïsche schwannomatose wijst de allel-/weefselverdeling van de pathogene variant duidelijk op mozaïcisme. Het fenotype kan milder zijn dan bij schwannomatose."},"pt":{"name":"Schwanomatose em mosaico","synonyms":["MNF3","Neurilemomatose em mosaico","Neurofibromatose em mosaico tipo 3","SWN em mosaico"],"definition":"Forma rara em mosaico de schwannomatose caracterizada por achados típicos de schwannomatose, ou seja, múltiplos tumores benignos da bainha dos nervos chamados schwannomas. A forma em mosaico é causada por variantes patogénicas pós-zigóticas em SMARCB1 ou LZTR1. Na svhwannomatose em mosaico, a distribuição alélica/teciduar da variante patogénica sugere claramente mosaicismo. O fenótipo pode ser mais ligeiro do que na schwannomatose."},"pl":{"name":"Mozaikowa postać schwannomatozy","synonyms":["MNF3","Mosaic SWN","Mosaic neurilemmomatosis","Mosaic neurofibromatosis type 3"],"definition":"Rzadka mozaikowa postać schwannomatozy charakteryzująca się objawami typowymi dla schwannomatozy, w tym mnogimi łagodnymi guzami osłonek nerwowych, zwanymi schwannoma. Postać mozaikowa jest spowodowana postzygotycznymi wariantami patogennymi w genach SMARCB1 lub LZTR1. W svhwannomatozie mozaikowej alleliczny/tkankowy rozkład wariantu patogennego wyraźnie sugeruje mozaikowość. Fenotyp może być łagodniejszy niż w przypadku schwannomatozy."},"cs":{"name":"Mozaiková forma schwannomatózy","synonyms":["MNF3","Mosaic SWN","Mosaic neurilemmomatosis","Mosaic neurofibromatosis type 3"]},"uk":{"name":"Мозаїчний шванноматоз","synonyms":["MNF3","Мозаїчний нейрилеммоматоз","Мозаїчний нейрофіброматоз типу 3","Мозаїчний SWN"],"definition":"A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis."}},"xrefs":[{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816779","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":634518,"name":"Neurofibromatosis/schwannomatosis","classifications":[156,181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"29909380[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7928,"area":"United Kingdom","status":"Validated","source":"29909380[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4502,"area":"United Kingdom","status":"Validated","source":"29909380[PMID]"}],"phenotypes":null}