{"orpha":424016,"name":"Adenocarcinoma of the anal canal","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424016/","orphanet_url":"https://www.orpha.net/en/disease/detail/424016","names":{"fr":{"name":"Adénocarcinome du canal anal","definition":"Une tumeur intestinale très rare dérivant de l'épithélium du canal anal (incluant la surface muqueuse, les glandes anales et la paroi des voies fistuleuses). Sur le plan macroscopique, elle se présente par une masse invasive nodulaire, souvent ulcéreuse, située au niveau du canal anal. Les patients présentent souvent un saignement rectal, ainsi qu'une douleur et des difficultés pendant la défécation. Si elle est présente, la lymphadénopathie inguinale indique habituellement une propagation métastatique."},"de":{"name":"Adenokarzinom des Analkanals","definition":"Ein sehr seltener Tumor des Darms, der vom Epithel des Analkanals (einschließlich der Schleimhautoberfläche, der Analdrüsen und der Auskleidung von Fistelgängen) ausgeht und sich makroskopisch als knotige, oft ulzerierte, invasive Masse im Analkanal darstellt. Die Patienten präsentieren sich oft mit rektalen Blutungen sowie Schwierigkeiten und Schmerzen bei der Defäkation. Falls eine Leistenlymphadenopathie vorhanden ist, deutet dies in der Regel auf eine metastatische Ausbreitung hin."},"es":{"name":"Adenocarcinoma del canal anal","definition":"Es un tumor del intestino muy poco frecuente que se origina en el epitelio del canal anal (incluida la superficie de la mucosa, las glándulas anales y el revestimiento de los tractos fistulosos), que aparece macroscópicamente como una masa nodular invasiva, a menudo ulcerada, localizada en el canal anal. Los afectados presentan a menudo sangrado rectal, así como dificultad y dolor durante la defecación. Si presenta linfadenopatía inguinal, indica habitualmente propagación metastásica."},"it":{"name":"Adenocarcinoma del canale anale","definition":"L'adenocarcinoma del canale anale è un tumore intestinale molto raro, che origina dall'epitelio del canale anale (compresa la mucosa, le ghiandole anali e il rivestimento dei tratti fistolosi). Al microscopio, si presenta come massa nodulare invasiva, spesso ulcerata, localizzata nel canale anale. Spesso i pazienti presentano emorragie rettali e difficoltà e dolore alla defecazione. Quando presente, la linfoadenopatia inguinale suggerisce la presenza di metastasi."},"nl":{"name":"Adenocarcinoom van anaal kanaal","definition":"Een zeer zeldzame tumor van darm, die ontstaat uit het epitheel van het anaal kanaal (inclusief mucosaal oppervlak, anale klieren, en wanden van fistuleuze kanalen), en die macroscopisch voorkomt als een nodulaire, vaak geülcereerde, invasieve massa gesitueerd in het anaal kanaal. Patiënten vertonen vaak rectale bloeding, alsook moeilijkheden en pijn tijdens de ontlasting. Indien aanwezig, wijst inguïnale lymfadenopathie meestal op metastatische uitzaaiing."},"pt":{"name":"Adenocarcinoma do canal anal"},"pl":{"name":"Gruczolakorak kanału odbytu"},"cs":{"name":"Adenokarcinom análního kanálu"},"uk":{"name":"Аденокарцинома анального каналу","definition":"A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread."},"zh":{"name":"肛管腺癌","definition":"一种非常罕见的肠道肿瘤，起源于肛管上皮（包括粘膜表面，肛门腺和瘘管内壁），大体可见肛管内呈结节状、常为溃疡性的浸润性肿块。患者经常出现直肠出血，以及排便时的困难和疼痛。如果存在腹股沟淋巴结肿大通常提示转移扩散。"},"tr":{"name":"Anal kanalın adenokarsinomu"}},"xrefs":[{"source":"ICD-10","code":"C21.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C00.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"168138050"},{"source":"MONDO","code":"0002735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1332259","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":424013,"name":"Carcinoma of the anal canal","classifications":[152,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.253,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.238,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.226,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.485,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.076,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.269,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.105,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"France","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.256,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.299,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.499,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.287,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.215,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.144,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.217,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.406,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.382,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.343,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.135,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-07","source":"10223561[PMID]_23809885[PMID]_24705191[PMID]_27510691[PMID]_25544486[PMID]_19702687[PMID]","terms":[{"hpo":"HP:0030439","label":"Anal canal adenocarcinoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002584","label":"Intestinal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null}]}}