{"orpha":263662,"name":"Familial multiple meningioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263662/","orphanet_url":"https://www.orpha.net/en/disease/detail/263662","names":{"fr":{"name":"Méningiomes multiples familiaux","definition":"Les méningiomes multiples familiaux sont un néoplasme bénin et rare du système nerveux caractérisé par le développement de méningiomes multiples (ou solitaires dans de rares cas) chez au moins deux membres d'une même famille, sans aucune autre manifestation syndromique apparente. En fonction de la localisation, du taux de croissance et de la taille des tumeurs, les patients peuvent être complètement asymptomatiques, ou présenter une atteinte neurologique qui peut être subtile, empirant progressivement, ou abrupte et sévère."},"de":{"name":"Meningeom, multiples, familiäre Form","definition":"Das familiäre multiple Meningom ist ein seltenes, gutartiges Neoplasma des zentralen Nervensystems, das durch die Entwicklung von multiplen oder seltenen solitären Meningomen bei zwei oder mehr Blutsverwandten gekennzeichnet ist, ohne weitere offensichtliche syndromale Manifestationen. Je nach Lokalisation, Wachstumsrate und Größe der Tumore können die Patienten mit subtilen, sich allmählich verschlechternden oder abrupten und schweren neurologischen Beeinträchtigungen konfrontiert werden oder völlig asymptomatisch sein."},"es":{"name":"Meningioma familiar múltiple","definition":"El meningioma familiar múltiple es una neoplasia benigna, poco frecuente, del sistema nervioso central caracterizada por el desarrollo de meningiomas múltiples o raramente solitarios en dos o más familiares consanguíneos, sin ninguna otra manifestación sindrómica aparente. Dependiendo de la localización, de la tasa de crecimiento y del tamaño de los tumores, los afectados pueden presentar leve empeoramiento progresivo, compromiso neurológico abrupto y grave o bien ser completamente asintomáticos."},"it":{"name":"Meningiomi multipli familiari","definition":"Il meningioma multiplo familiare è una neoplasia rara benigna del sistema nervose contrale; è caratterizzato da meningiomi multipli o, raramente, solitari in due o più consanguinei, in assenza di altri segni sindromici evidenti. A seconda della localizzazione, della rapidità di crescita e delle dimensioni dei tumori, i pazienti possono presentare una compromissione neurologica lieve che peggiora gradualmente, una compromissione improvvisa e grave oppure possono essere asintomatici."},"nl":{"name":"Familiaal meervoudig meningeoom","definition":"Familiaal meervoudig meningeoom is een zeldzaam, goedaardig neoplasma van het centrale zenuwstelsel en wordt gekarakteriseerd door de ontwikkeling van meervoudige, of in zeldzame gevallen enkelvoudige, meningeomen in twee of meer bloedverwanten, zonder andere zichtbare syndromale manifestaties. Afhankelijk van de lokalisatie, groeisnelheid en omvang van de tumoren, kunnen patiënten subtiele, gradueel verergerende of abrupte en ernstige neurologische complicaties vertonen, of kunnen ze volledig asymptomatisch zijn."},"pt":{"name":"Meningioma familiar múltiplo"},"pl":{"name":"Rodzinne mnogie oponiaki"},"cs":{"name":"Familiární mnohočetné meningeomy"},"uk":{"name":"Сімейна множинна менінгіома","definition":"Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic."},"zh":{"name":"家族性多发性脑膜瘤","definition":"家族性多发性脑膜瘤是一种罕见的中枢神经系统良性肿瘤，其特征是在两个或更多的亲缘个体中罹患多个或罕见的单发脑膜瘤，没有其他明显的症状表现。根据肿瘤的部位、生长速度和大小，患者可能出现轻微的、逐渐恶化的或突然的严重神经损害，也可能完全没有症状。"},"tr":{"name":"ailesel çoklu menenjiyom"}},"xrefs":[{"source":"OMIM","code":"607174","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D32.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A01.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"160795085"},{"source":"MONDO","code":"0016995","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":252025,"name":"Tumor of meninges","classifications":[181,202]}],"children":[],"genes":[{"symbol":"MN1","name":"MN1 proto-oncogene, transcriptional regulator","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7180","ensembl":"ENSG00000169184","omim":"156100","loci":["22q12.1"]},{"symbol":"PDGFB","name":"platelet derived growth factor subunit B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"3969118[PMID]","hgnc":"8800","ensembl":"ENSG00000100311","omim":"190040","loci":["22q13.1"]},{"symbol":"SMARCE1","name":"SWI/SNF related BAF chromatin remodeling complex subunit E1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23377182[PMID]","hgnc":"11109","ensembl":"ENSG00000073584","omim":"603111","loci":["17q21.2"]},{"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":"20930055[PMID]","hgnc":"11103","ensembl":"ENSG00000099956","omim":"601607","loci":["22q11.23"]},{"symbol":"SUFU","name":"SUFU negative regulator of hedgehog signaling","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22958902[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}