{"orpha":69077,"name":"Rhabdoid tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Malignant rhabdoid tumor"],"definition":"Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69077/","orphanet_url":"https://www.orpha.net/en/disease/detail/69077","names":{"fr":{"name":"Tumeur rhabdoïde","synonyms":["Tumeur rhabdoïde maligne"],"definition":"La tumeur rhabdoïde est un sarcome agressif des tissus mous chez l'enfant, affectant les reins, le foie, les nerfs périphériques et tous les tissus mous du corps. Elle prend le nom de tumeur rhabdoïde tératoïde atypique (ATRT) lorsqu'elle affecte le système nerveux central (SNC)."},"de":{"name":"Rhabdoidtumor","synonyms":["Tumor, maligner rhabdoider"],"definition":"Der Rhabdoidtumor (RT) ist ein aggressives Weichteilsarkom des Kindesalters. Der RT entsteht in Niere, Leber, peripheren Nerven und in verschiedenen Geweben aller Bereiche des Körpers. RTs im Zentralnervensystem (ZNS) werden als Atypischer teratoider Rhabdoidtumor (ATRT; s. dort) bezeichnet."},"es":{"name":"Tumor rabdoide","synonyms":["Tumor rabdoide maligno"],"definition":"El tumor rabdoide (TR) es un sarcoma pediátrico agresivo de los tejidos blandos que surge en los riñones, el hígado, los nervios periféricos y otras partes blandas del cuerpo. Cuando el TR afecta al sistema nervioso central (SNC) se llama tumor teratoideo rabdoide atípico (TTRA; ver este término)."},"it":{"name":"Tumore rabdoide","synonyms":["Tumore rabdoide maligno"],"definition":"Il tumore rabdoide (RT) è un sarcoma pediatrico aggressivo dei tessuti molli che insorge nei reni, nel fegato, nei nervi periferici e in diverse parti molli del corpo. Il RT che interessa il sistema nervoso centrale (SNC) viene definito tumore rabdoide teratoide atipico (ATRT; si veda questo termine)."},"nl":{"name":"Rhabdoïde tumor","synonyms":["Maligne rhabdoïde tumor"],"definition":"Rhabdoïde tumor (RT) in een agressief pediatrisch wekedelensarcoom dat voorkomt in de nieren, de lever, perifere zenuwen en allerlei zachte weefsels in het lichaam. RT waarbij het centrale zenuwstelsel (CZS) is betrokken wordt atypische teratoïde rhabdoïde tumor (ATRT; zie deze term) genoemd."},"pt":{"name":"Tumores rabdóides","synonyms":["Tumores rabdóides malignos"]},"pl":{"name":"Guz rabdoidalny","synonyms":["Złośliwy guz rabdoidalny"]},"cs":{"name":"Rhabdoidní tumor","synonyms":["Maligní rhabdoidní tumor"]},"uk":{"name":"Рабдоїдна пухлина","synonyms":["Злоякісна рабдоїдна пухлина"],"definition":"Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term)."},"zh":{"name":"杆状瘤","synonyms":["恶性横纹肌样瘤"]},"tr":{"name":"Rabdoid tümör","synonyms":["Habis rabdoid tümör"]}},"xrefs":[{"source":"OMIM","code":"609322","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613325","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B5K","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH3RF3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1850105733"},{"source":"MONDO","code":"0002728","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}