{"orpha":873,"name":"Desmoid tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aggressive fibromatosis","Desmoid type fibromatosis"],"definition":"A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-873/","orphanet_url":"https://www.orpha.net/en/disease/detail/873","names":{"fr":{"name":"Tumeur desmoïde","synonyms":["Fibromatose agressive","Fibromatose type desmoïde"],"definition":"La tumeur dismoïde (TD) est une tumeur bénigne des tissus mous, localement invasive et hautement récidivante, mais non métastatique."},"de":{"name":"Desmoidtumor","synonyms":["Desmoid-Fibromatose","Fibromatose, aggressive"],"definition":"Ein Desmoid-Tumor (DT) ist ein benigner, lokal invasiver Weichteiltumor mit hoher Rezidivrate aber ohne Metastasierungs-Potential."},"es":{"name":"Tumor desmoide","synonyms":["Fibromatosis agresiva","Fibromatosis tipo desmoide"],"definition":"Un tumor desmoide (TD) es un tumor benigno de los tejidos blandos localmente invasivo, asociado a una alta tasa de recurrencia pero sin potencial metastásico."},"it":{"name":"Tumore desmoide","synonyms":["Fibromatosi aggressiva","Fibromatosi, tipo desmoide"],"definition":"Il tumore desmoide (DT) è una neoplasia benigna dei tessuti molli, localmente invasiva, associata ad un elevato tasso di ricorrenza, senza potenziale metastatico."},"nl":{"name":"Desmoïde tumor","synonyms":["Agressieve fibromatose","Desmoïd-type fibromatose"],"definition":"Een desmoïde tumor (DT) is een goedaardige, lokaal-invasieve wekedelentumor die is geassocieerd met een hoge terugvalgraad maar zonder potentieel voor metastase."},"pt":{"name":"Doença desmóide","synonyms":["Fibromatose agressiva"]},"pl":{"name":"Guz desmoidalny","synonyms":["Fibromatoza agresywna","Fibromatoza typu desomidalnego"]},"cs":{"name":"Desmoidní tumor","synonyms":["Agresivní fibromatóza","Desmoidní typ fibromatózy"]},"uk":{"name":"Десмоїдна пухлина","synonyms":["Агресивний фіброматоз","Фіброматоз десмоїдного типу"],"definition":"A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential."},"zh":{"name":"韧带样纤维瘤","synonyms":["韧带样型纤维瘤病"]},"tr":{"name":"Desmoid tümör","synonyms":["Agresif fibromatoz","Desmoid tipi fibromatoz"]}},"xrefs":[{"source":"OMIM","code":"135290","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D48.1","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2F7C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH13Z3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1314962913"},{"source":"MONDO","code":"0007608","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0079218","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1820","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059352","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"APC","name":"APC regulator of Wnt signaling pathway","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"583","ensembl":"ENSG00000134982","omim":"611731","loci":["5q22.2"]},{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":null,"hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Finland","status":"Not yet validated","source":"3946757[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004298","label":"Abnormality of the abdominal wall","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100245","label":"Desmoid tumors","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null}]}}