{"orpha":99966,"name":"Atypical teratoid rhabdoid tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATRT"],"definition":"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99966/","orphanet_url":"https://www.orpha.net/en/disease/detail/99966","names":{"fr":{"name":"Tumeur rhabdoïde tératoïde atypique","synonyms":["ATRT"],"definition":"La tumeur rhabdoïde tératoïde atypique (ATRT) est une tumeur rhabdoïde du système nerveux central (SNC) très maligne, retrouvée presqu'exclusivement chez les enfants."},"de":{"name":"Tumor, atypischer teratoider","synonyms":["ATRT"],"definition":"Der Atypische teratoide Rhabdoidtumor (ATRT) ist ein hochmaligner Rhabdoidtumor (RT; siehe dort) des Zentralnervensystems (ZNS) und tritt fast ausschließlich bei Kindern auf."},"es":{"name":"Tumor teratoideo rabdoide atípico","synonyms":["ATRT"],"definition":"Es un tumor rabdoide (TR) muy maligno del sistema nervioso central (SNC) descrito casi exclusivamente en niños."},"it":{"name":"Tumore rabdoide teratoide atipico","synonyms":["ATRT"],"definition":"Il tumore rabdoide teratoide atipico (ATRT) è un tumore rabdoide (RT; si veda questo termine), ad elevato grado di malignità, del sistema nervoso centrale (SNC), descritto quasi esclusivamente nei bambini."},"nl":{"name":"Atypische teratoïde rhabdoïde tumor","synonyms":["ATRT"],"definition":"Een zeldzame, zeer kwaadaardige rhabdoïde tumor (RT) van centraal zenuwstelsel (CZS) die bijna alleen bij kinderen wordt aangetroffen."},"pt":{"name":"Tumor teratóide, atípico"},"pl":{"name":"Atypowy guz teratoidny rabdoidny","synonyms":["ATRT"]},"cs":{"name":"Atypický teratoidní rhabdoidní nádor","synonyms":["ATRT"]},"uk":{"name":"Атипова тератоїдна рабдоїдна пухлина","synonyms":["ATRT"],"definition":"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children."},"zh":{"name":"非典型畸胎样/横纹肌样瘤","synonyms":["ATRT"],"definition":"不典型畸胎样横纹肌样瘤是一种罕见的高度恶性的中枢神经系统横纹肌样瘤(RT)，几乎仅见于儿童。"},"tr":{"name":"Atipik teratoid rabdoid tümör","synonyms":["ATRT"]}},"xrefs":[{"source":"OMIM","code":"609322","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"406773184"},{"source":"MONDO","code":"0020560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1266184","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":251891,"name":"OBSOLETE: Atypical teratoid/rhabdoid tumor","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251852,"name":"Embryonal tumor of neuroepithelial tissue","classifications":[181,202]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"SMARCB1","name":"SWI/SNF related BAF chromatin remodeling complex subunit B1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"11103","ensembl":"ENSG00000099956","omim":"601607","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"20737418[PMID]_19707161[PMID]_22988546[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.38,"area":"Austria","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000741","label":"Apathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100836","label":"Malignant neoplasm of the central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null}]}}