{"orpha":391723,"name":"Mucinous adenocarcinoma of the appendix","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Appendiceal mucinous adenocarcinoma"],"definition":"Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391723/","orphanet_url":"https://www.orpha.net/en/disease/detail/391723","names":{"fr":{"name":"Adénocarcinome mucineux de l'appendice","synonyms":["Adénocarcinome mucineux appendiculaire"],"definition":"L'adénocarcinome mucineux de l'appendice est un néoplasme épithélial très rare de l'appendice, bien différencié et progressant lentement. Il se caractérise par une abondante production de mucine. Sur le plan clinique, il se présente par une appendicite aigüe (avec douleur abdominale, fièvre, leucocytose) ou par un pseudomyxome péritonéal (présence très étendue de mucine au sein de la cavité péritonéale). Cependant, certains patients peuvent être complètement asymptomatiques au moment du diagnostic. Une malignité gastro-intestinale secondaire est présente dans plusieurs cas."},"de":{"name":"Muzinöses Adenokarzinom des Appendix","definition":"Das muzinöses Adenokarzinom des Appendix ist ein sehr seltenes, langsam wachsendes, gut differenziertes epitheliales Neoplasma des Wurmfortsatzes, das durch eine reichliche Muzinproduktion gekennzeichnet ist. Klinisch präsentiert es sich als akute Appendizitis (mit Bauchschmerzen, Fieber, Leukozytose) oder als Pseudomyxoma peritonei (weitverbreitetes Vorhandensein von Muzin in der Peritonealhöhle), wobei einige Patienten zum Zeitpunkt der Diagnose völlig asymptomatisch sein können. In vielen Fällen liegt ein zweites gastrointestinales Malignom vor."},"es":{"name":"Adenocarcinoma mucinoso del apéndice","synonyms":["Adenocarcinoma mucinoso apendicular"],"definition":"El adenocarcinoma mucinoso del apéndice es una neoplasia epitelial apendicular bien diferenciada, de crecimiento lento y muy poco frecuente caracterizada por la abundante producción de mucina. Clínicamente se presenta como apendicitis aguda (con dolor abdominal, fiebre, leucocitosis) o pseudomixoma peritoneal (presencia generalizada de mucina en la cavidad peritoneal); sin embargo, algunos pacientes pueden ser completamente asintomáticos en el momento del diagnóstico. En muchos casos, está presente una segunda neoplasia gastrointestinal."},"it":{"name":"Adenocarcinoma mucinoso dell'appendice","synonyms":["Adenocarcinoma mucinoso appendicolare"],"definition":"L'adenocarcinoma mucinoso dell'appendice è una neoplasia epiteliale molto rara, ben differenziata, a crescita lenta, caratterizzata da un'abbondante produzione di mucina. Esordisce con appendicite acuta (dolori addominali, febbre e leucocitosi) o sotto forma di pseudomixoma del peritoneo (presenza diffusa di mucina all'interno della cavità peritoneale); alcuni pazienti sono asintomatici al momento della diagnosi. In molti casi si associa ad un secondo tumore maligno del tratto gastrointestinale."},"nl":{"name":"Mucineus adenocarcinoom van appendix","synonyms":["Appendiculair muceus adenocarcinoom"],"definition":"Mucineus adenocarcinoom van de appendix is een zeer zeldzaam, traag groeiend, goed gedifferentieerd epitheliaal neoplasma van de appendix dat gekarakteriseerd wordt door overvloedige productie van mucine. Klinisch uit de ziekte zich als acute appendicitis (met buikpijn, koorts, leukocytose) of als pseudomyxoma peritonei (wijdverspreide aanwezigheid van mucine in de peritoneale holte), hoewel sommige patiënten ook volledig asymptomatisch kunnen zijn op het moment van de diagnose. In vele gevallen is een tweede gastro-intestinale maligniteit aanwezig."},"pt":{"name":"Adenocarcinoma mucinoso do apêndice"},"pl":{"name":"Rakowiak gruczołowy śluzowy wyrostka robaczkowego","synonyms":["Rakowiak gruczołowy śluzowy wyrostka robaczkowego"]},"cs":{"name":"Mucinózní adenokarcinom apendixu","synonyms":["Apendikální mucinózní adenokarcinom"]},"uk":{"name":"Муцинозна аденокарцинома апендикса","synonyms":["Муцинозна аденокарцинома апендикса"],"definition":"Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present."},"zh":{"name":"阑尾粘液腺癌","synonyms":["阑尾粘液性腺癌"],"definition":"阑尾粘液腺癌是一种非常罕见的、生长缓慢、分化良好的阑尾上皮性肿瘤，其特征是分泌大量粘液。临床上表现为急性阑尾炎(伴有腹痛、发热、白细胞增多)或腹膜假性粘液瘤(腹腔内广泛存在粘液)，但部分患者在确诊时可能完全没有症状。在许多病例中存在第二种胃肠道恶性肿瘤。"},"tr":{"name":"Apendiksin müsinöz adenokarsinomu","synonyms":["Apandise ait müsinöz adenokarsinom"]}},"xrefs":[{"source":"ICD-10","code":"C18.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B81.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"425095558"},{"source":"MONDO","code":"0018330","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1706832","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":423982,"name":"Epithelial tumor of the appendix","classifications":[152,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":null}