{"orpha":2495,"name":"Meningioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2495/","orphanet_url":"https://www.orpha.net/en/disease/detail/2495","names":{"fr":{"name":"Méningiome","definition":"Maladie néoplasique rare, essentiellement bénigne, caractérisée par une tumeur primitive des méninges, généralement intracrânienne (environ 90 % des cas), mais on peut également observer des méningiomes spinaux. Les signes cliniques dépendent de la localisation de la tumeur et peuvent inclure des convulsions, des déficits neurologiques focaux (troubles sensori-moteurs ou visuels, dysfonctionnement des nerfs crâniens), des complications vasculaires (occlusion de vaisseaux sanguins cérébraux, thrombose veineuse profonde, embolie pulmonaire), une augmentation chronique de la pression intracrânienne, des troubles neurocognitifs et/ou une perte du contrôle de la vessie et du sphincter anal."},"de":{"name":"Meningeom","synonyms":["Meningiom"],"definition":"Eine seltene, meist gutartige Neoplasie, die durch einen primären Tumor der Hirnhäute gekennzeichnet ist, der in der Regel intrakraniell lokalisiert ist (~90 %), aber auch spinale Meningeome kommen vor. Die klinischen Symptome hängen von der Lokalisation des Tumors ab und können Krampfanfälle, fokale neurologische Defizite (sensomotorische oder visuelle Symptome, Hirnnervenstörungen), vaskuläre Komplikationen (Verschluss zerebraler Blutgefäße, tiefe Venenthrombose, Lungenembolie), chronisch erhöhter Hirndruck, neurokognitive Beeinträchtigung und/oder Verlust der Kontrolle über den Blasen- und Anus-Sphinkter umfassen."},"es":{"name":"Meningioma","definition":"Es una enfermedad neoplásica poco frecuente, habitualmente benigna, caracterizada por un tumor primario de las meninges, por lo general, con localización intracraneal (~ 90%), aunque también puede ser espinal. Los síntomas clínicos están asociados a la localización del tumor, pudiendo incluir crisis epilépticas, déficits neurológicos focales (síntomas sensitivo-motores o visuales, disfunción de los pares craneales), complicaciones vasculares (oclusión de los vasos sanguíneos cerebrales, trombosis venosa profunda, embolia pulmonar), aumento crónico de la presión intracraneal, afectación neurocognitiva y/o pérdida del control del esfínter de la vejiga/del ano."},"it":{"name":"Meningioma","definition":"Si tratta di una neoplasia rara, per lo più benigna, caratterizzata da un tumore primitivo delle meningi, di solito localizzato a livello intracranico (~90%), ma anche spinale. I segni clinici dipendono dalla localizzazione del tumore e comprendono le crisi epilettiche, i deficit neurologici focali (sintomi sensitivo-motori o visivi, disfunzione dei nervi cranici), le complicanze vascolari (occlusione dei vasi sanguigni cerebrali, trombosi venosa profonda, embolia polmonare), l'aumento cronico della pressione intracranica, i deficit neurocognitivi e/o la perdita del controllo della vescica/sfintere anale."},"nl":{"name":"Meningeoom","definition":"Een zeldzame, overwegend goedaardige, neoplastische aandoening, gekarakteriseerd door een primaire tumor van hersenvliezen, meestal intracranieel gelokaliseerd (~90%), maar meningeoom van ruggenmerg komt ook voor. Klinische symptomen zijn gerelateerd aan de locatie van de tumor, en omvatten onder meer insulten, focale neurologische functiestoornissen (sensorimotorische of visuele symptomen, disfunctie van hersenzenuw), vasculaire complicaties (occlusie van cerebrale bloedvaten, diep veneuze trombose, pulmonale embolie), chronisch verhoogde intracraniële druk, neurocognitieve stoornis en/of verlies van controle van sluitspier van blaas/anus."},"pt":{"name":"Meningioma"},"pl":{"name":"Oponiak"},"cs":{"name":"Meningeom","synonyms":["Meningiom"]},"uk":{"name":"Менінгіома","definition":"A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include seizures, focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control."},"zh":{"name":"脑膜瘤"},"tr":{"name":"Menenjiyom"}},"xrefs":[{"source":"OMIM","code":"606190","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D32.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A01.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"672106711"},{"source":"MONDO","code":"0016642","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025286","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7015","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027191","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":95503,"name":"Pituitary hormone deficiency of tumoral origin","classifications":[193]},{"orpha":252025,"name":"Tumor of meninges","classifications":[181,202]}],"children":[],"genes":[{"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":"AKT1","name":"AKT serine/threonine kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31750041[PMID]","hgnc":"391","ensembl":"ENSG00000142208","omim":"164730","loci":["14q32.33"]},{"symbol":"BAP1","name":"BRCA1 associated deubiquitinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28170043[PMID]","hgnc":"950","ensembl":"ENSG00000163930","omim":"603089","loci":["3p21.1"]},{"symbol":"PDGFB","name":"platelet derived growth factor subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2212004[PMID]","hgnc":"8800","ensembl":"ENSG00000100311","omim":"190040","loci":["22q13.1"]},{"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":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22958902[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"]},{"symbol":"BAP1","name":"BRCA1 associated deubiquitinase 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28170043[PMID]","hgnc":"950","ensembl":"ENSG00000163930","omim":"603089","loci":["3p21.1"]},{"symbol":"NF2","name":"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"8162072[PMID]","hgnc":"7773","ensembl":"ENSG00000186575","omim":"607379","loci":["22q12.2"]},{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26826201[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]},{"symbol":"SMO","name":"smoothened, frizzled class receptor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23334667[PMID]_23348505[PMID]","hgnc":"11119","ensembl":"ENSG00000128602","omim":"601500","loci":["7q32.1"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"29216385[PMID]_29312603[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]},{"symbol":"TRAF7","name":"TNF receptor associated factor 7","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23334667[PMID]_23348505[PMID]","hgnc":"20456","ensembl":"ENSG00000131653","omim":"606692","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.15,"area":"Germany","status":"Validated","source":"25249493[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":8.14,"area":"United States","status":"Validated","source":"Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-17","source":"8334619[PMID]_15135603[PMID]_15452322[PMID]_16762094[PMID]_17580362[PMID]_10560602[PMID]_19864997[PMID]_20433281[PMID]_21629022[PMID]_22288971[PMID]_27235182[PMID]_22094004[PMID]_21804547[PMID]_24755950[PMID]_11376799[PMID]","terms":[{"hpo":"HP:0010997","label":"Chromosomal breakage induced by ionizing radiation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011133","label":"Increased sensitivity to ionizing radiation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100009","label":"Intracranial meningioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030341","label":"Decreased circulating follicle stimulating hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030344","label":"Decreased circulating luteinizing hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012691","label":"Focal T2 hypointense thalamic lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012285","label":"Abnormal hypothalamus physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030591","label":"Abnormal kinetic perimetry test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011442","label":"Abnormality of central motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011730","label":"Abnormality of central sensory function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012505","label":"Enlarged pituitary gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","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:0008237","label":"Hypothalamic hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011750","label":"Neoplasm of the anterior pituitary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008202","label":"Reduced circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100010","label":"Spinal meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030532","label":"Visual acuity test abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007715","label":"Weak extraocular muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002512","label":"Brain stem compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030766","label":"Ear pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010828","label":"Hemifacial spasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011752","label":"Neoplasm of the posterior pituitary","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100648","label":"Neoplasm of the tongue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006520","label":"Progressive pulmonary function impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010534","label":"Transient global amnesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null}]}}