{"orpha":637,"name":"Full NF2-related schwannomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Full NF2","Full neurofibromatosis type 2","Nonmosaic NF2-related schwannomatosis","Nonmosaic neurofibromatosis type 2"],"definition":"A rare inherited cancer-predisposing syndrome disorder characterized by the development of multiple schwannomas, meningiomas and ependymoma. Schwannomas typically affect both vestibular nerves but also other cranial and peripheral nerves, leading to tinnitus, hearing loss and balance dysfunction. Intradermal schwannomas and ocular involvement (cataract, retinal hamartoma) are also typical.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-637/","orphanet_url":"https://www.orpha.net/en/disease/detail/637","names":{"fr":{"name":"Schwannomatose liée à NF2 germinale","synonyms":["NF2 germinale","NF2 non mosaïque","Neurinome de l'acoustique familial germinal","Neurofibromatose type 2 germinale","Neurofibromatose type 2 non mosaïque","Neurome de l'acoustique familial germinal","Schwannomatose liée à NF2 non mosaïque","Schwannome vestibulaire familial germinal"],"definition":"Syndrome héréditaire rare prédisposant au cancer, caractérisé par l'apparition de schwannomes, de méningiomes et d'épendymomes multiples. Les schwannomes touchent généralement les deux nerfs vestibulaires, mais aussi d'autres nerfs crâniens et périphériques, entraînant des acouphènes, une perte auditive et des troubles de l'équilibre. Les schwannomes intradermiques et les atteintes oculaires (cataracte, hamartome rétinien) sont également fréquents."},"de":{"name":"Schwannomatose, NF2-assoziierte","synonyms":["Akustikusneurinom, bilaterales","NF2","NF2-bedingte Schwannomatose","Neurofibromatose Typ 2","Neurofibromatose, zentrale"],"definition":"Neurofibromatose Typ 2 (NF2) ist eine Tumordispositions-Erkrankung, die durch die Entwicklung von multiplen Schwannomen und Meningeomen gekennzeichnet ist."},"es":{"name":"Schwannomatosis completa asociada a NF2","synonyms":["NF2","Neurofibromatosis tipo 2 completa","Neurofibromatosis tipo 2 no mosaico"],"definition":"La neurofibromatosis tipo 2 (NF2) es un trastorno de predisposición a tumores caracterizado por el desarrollo de múltiples schwannomas y meningiomas."},"it":{"name":"Schwannomatosi completa correlata a NF2","synonyms":["NF2 completa","Neurofibromatosi completa tipo 2","Neurofibromatosi tipo 2 non in mosaico","Schwannomatosi non in mosaico correlata a NF2"],"definition":"La neurofibromatosi tipo 2 (NF2) è una malattia da predisposizione ai tumori ed è caratterizzata dallo sviluppo di shwannomi e meningiomi multipli."},"nl":{"name":"Volledige schwannomatose gerelateerd aan NF2","synonyms":["Niet-mozaïsche NF2-gerelateerde schwannomatose","Niet-mozaïsche neurofibromatose type 2","Volledige NF2","Volledige neurofibromatose type 2"],"definition":"Een zeldzaam erfelijk kankerpredispositiesyndroom, gekenmerkt door de ontwikkeling van multipele schwannomen, meningeomen en ependymomen. Schwannomen tasten doorgaans beide evenwichtszenuwen aan, maar ook andere hersenzenuwen en perifere zenuwen, wat leidt tot tinnitus, gehoorverlies en evenwichtsstoornissen. Intradermale schwannomen en oculaire betrokkenheid (cataract, hamartoom van retina) zijn ook typerend."},"pt":{"name":"Schwanomatose de espectro clínico completo NF2-relacionada","synonyms":["NF2 de espectro clínico completo","Neurofibromatose central","Neurofibromatose tipo 2 não em mosaico","Schwanomatose não em mosaico NF2-relacionada"],"definition":"A neurofibromatose tipo 2 (NF2) é uma doença propensa a tumores, caracterizada pelo desenvolvimento de múltiplos schwannomas e meningiomas."},"pl":{"name":"Neurofibromatoza typu 2","synonyms":["NF2","Rodzinna szwannoma nerwu przedsionkowego","Rodzinny nerwiak nerwu słuchowego","Rodzinny nerwiak osłonkowy nerwu słuchowego","Pełna schwannomatoza związana z NF2"],"definition":"Neurofibromatoza typu 2 to zespół podatności na nowotwory, charakteryzujący się rozwojem licznych nerwiaków i oponiaków."},"cs":{"name":"Neurofibromatóza, typ 2","synonyms":["Bilaterální akustická neurofibromatóza","Centrální neurofibromatóza","NF2"]},"uk":{"name":"Повний NF2-асоційований шванноматоз","synonyms":["Повний нейрофіброматоз 2 типу","Повний NF2","Немозаїчний нейрофіброматоз типу 2","Немозаїчний NF2-асоційований шванноматоз"],"definition":"Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas."},"zh":{"name":"神经纤维瘤病2型","synonyms":["NF2"]},"tr":{"name":"Nörofibromatoz tip 2","synonyms":["NF2"]}},"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":"E","icd_relation":"specific","validated":true,"icd11_uri":"14808714"},{"source":"MONDO","code":"7039","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016518","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027832","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]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"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":"20301380[PMID]","hgnc":"7773","ensembl":"ENSG00000186575","omim":"607379","loci":["22q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.78,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.56,"area":"Finland","status":"Validated","source":"25354145[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-16","source":"20301380[PMID]_26073919[PMID]_28720529[PMID]","terms":[{"hpo":"HP:0030430","label":"Neuroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009589","label":"Bilateral vestibular schwannoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100009","label":"Intracranial meningioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009593","label":"Peripheral schwannoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002512","label":"Brain stem compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100019","label":"Cortical cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002888","label":"Ependymoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100014","label":"Epiretinal membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009831","label":"Mononeuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009594","label":"Retinal hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100010","label":"Spinal meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031189","label":"Wrist drop","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009733","label":"Glioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007968","label":"Remnants of the hyaloid vascular system","frequency":"Very rare (<4-1%)","criteria":null}]}}