{"orpha":634475,"name":"Mosaic NF2-related schwannomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MNF2","Mosaic NF2","Mosaic neurofibromatosis type 2"],"definition":"A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-634475/","orphanet_url":"https://www.orpha.net/en/disease/detail/634475","names":{"fr":{"name":"Schwannomatose liée à NF2 mosaïque","synonyms":["NF2 mosaïque","Neurofibromatose 2 mosaïque","Neurofibromatose type 2 mosaïque"],"definition":"Forme mosaïque rare de schwannomatose liée à NF2 caractérisée par des signes typiques de la schwannomatose liée à NF2, à savoir le développement de multiples tumeurs bénignes de la gaine du nerf appelées schwannomes, affectant particulièrement le nerf vestibulaire. La forme mosaïque est causée par des variants pathogènes postzygotes de NF2. Dans la schwannomatose mosaïque liée à NF2, la répartition allélique/tissulaire du variant pathogène de NF2 pointe clairement vers un mosaïcisme. Le phénotype peut être plus léger que dans la schwannomatose liée à la NF2."},"de":{"name":"Mosaik-Schwannomatose, NF2-assoziierte","synonyms":["MNF2","Mosaik-NF2","Mosaik-NF2-bedingte Schwannomatose","Mosaik-Neurofibromatose Typ 2"],"definition":"Eine seltene Mosaikform der NF2-assoziierten Schwannomatose, die durch die für die NF2-assoziierte Schwannomatose typischen Befunde gekennzeichnet ist, nämlich die Entwicklung multipler gutartiger Nervenscheidentumore, so genannter Schwannome, die insbesondere den Vestibularisnerv betreffen. Die Mosaikform wird durch postzygotische pathogene Varianten im NF2-Gen verursacht. Bei der Mosaikform der NF2-assoziierten Schwannomatose lässt die Allel-/Gewebeverteilung der pathogenen NF2-Variante eindeutig auf einen Mosaik-Zustand schließen. Der Phänotyp kann milder sein als bei der NF2-assoziierten Schwannomatose."},"es":{"name":"Schwannomatosis en mosaico asociada al gen NF2","synonyms":["MNF2","Neurofibromatosis tipo 2 en mosaico"],"definition":"Es una forma en mosaico de la schwannomatosis asociada a NF2 poco frecuente caracterizada por hallazgos típicos de la schwannomatosis asociada a NF2, es decir, por el desarrollo de múltiples tumores benignos de la vaina nerviosa denominados schwannomas, que afectan particularmente al nervio vestibular. La forma en mosaico está causada por variantes patogénicas poscigóticas de <i>NF2</i>. En la schwannomatosis en mosaico asociada a NF2, la distribución alélica/ tisular de la variante patogénica de <i>NF2</i> sugiere claramente la presencia de mosaicismo. El fenotipo puede ser más leve que en la schwannomatosis asociada a NF2."},"it":{"name":"Schwannomatosi in mosaico correlata a NF2","synonyms":["MNF2","NF2 in mosaico","Neurofibromatosi in mosaico tipo 2"]},"nl":{"name":"Mozaïek NF2-gerelateerde schwannomatose","synonyms":["MNF2","Mozaïek NF2","Mozaïek neurofibromatose type 2"],"definition":"Een zeldzame mozaïsche vorm van NF2-gerelateerde schwannomatose, gekenmerkt door typische bevindingen van NF2-gerelateerde schwannomatose, met name ontwikkeling van meervoudige goedaardige zenuwschedetumoren gekend als schwannomen, vooral met aantasting van nervus vestibularis (evenwichtszenuw). De mozaïsche vorm wordt veroorzaakt door postzygotische pathogene varianten in <i>NF2</i>. Bij mozaïsche NF2-gerelateerde schwannomatose wijst de allel-/weefselverdeling van de pathogene <i>NF2</i>-variant duidelijk op mozaïcisme. Het fenotype kan milder zijn dan bij NF2-gerelateerde schwannomatose."},"pt":{"name":"Schwanomatose em mosaico NF2-relacionada","synonyms":["MNF2","NF2 em mosaico","Neurofibromatose em mosaico tipo 2"],"definition":"Forma rara em mosaico de schwannomatose relacionada com o NF2, caracterizada por achados típicos de schwannomatose relacionada com a NF2, ou seja, desenvolvimento de múltiplos tumores benignos da bainha dos nervos denominados schwannomas, afetando particularmente o nervo vestibular. A forma em mosaico é causada por variantes patogénicas pós-zigóticas no NF2. Na schwannomatose relacionada com o NF2 em mosaico, a distribuição alélica/teciduar da variante patogénica no NF2 sugere claramente mosaicismo. O fenótipo pode ser mais ligeiro do que na schwannomatose relacionada com o NF2."},"pl":{"name":"Mozaikowa postać schwannomatozy związanej z NF2","synonyms":["MNF2","Mosaic NF2","Mosaic neurofibromatosis type 2"],"definition":"Rzadka mozaikowa postać schwannomatozy związanej z NF2, charakteryzująca się objawami typowymi dla schwannomatozy związanej z NF2, tj. rozwojem wielu łagodnych guzów z osłonek nerwowych, zwanych schwannoma, dotyczących szczególnie nerwu przedsionkowego. Postać mozaikowa jest spowodowana postzygotycznymi wariantami patogennymi w NF2. W schwannomatozie mozaikowej związanej z NF2 alleliczny/tkankowy rozkład patogennego wariantu NF2 wyraźnie sugeruje mozaikowość. Fenotyp może być łagodniejszy niż w przypadku schwannomatozy związanej z NF2."},"cs":{"name":"Mozaiková forma schwannomatózy asociovaná s NF2","synonyms":["MNF2","Mosaic NF2","Mosaic neurofibromatosis type 2"]},"uk":{"name":"Мозаїчний NF2-асоційований шванноматоз","synonyms":["MNF2","Мозаїчний нейрофіброматоз типу 2","Мозаїчний NF2"],"definition":"A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis."}},"xrefs":[{"source":"OMIM","code":"101000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.11","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0859764","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816778","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":634518,"name":"Neurofibromatosis/schwannomatosis","classifications":[156,181,202]}],"children":[],"genes":[{"symbol":"NF2","name":"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35674741[PMID]","hgnc":"7773","ensembl":"ENSG00000186575","omim":"607379","loci":["22q12.2"]}],"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":"35674741[PMID]_ORPHANET"}],"phenotypes":null}