{"orpha":100079,"name":"Neuroendocrine neoplasm of appendix","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Appendiceal NEN","Appendiceal neuroendocrine neoplasm","NEN of appendix"],"definition":"A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100079/","orphanet_url":"https://www.orpha.net/en/disease/detail/100079","names":{"fr":{"name":"Néoplasme neuroendocrine de l'appendice","synonyms":["NEN appendiculaire","NEN de l'appendice","Néoplasme neuroendocrine appendiculaire"],"definition":"Néoplasme sporadique rare de l'appendice et tumeur endocrine digestive, sans présentation clinique particulière. Elle se divise en tumeur neuroendocrine classique de l'appendice ou en carcinome à cellules caliciformes, plus agressif."},"de":{"name":"Tumor, neuroendokriner, der Appendix","synonyms":["Appendikale NEN","Appendikale neuroendokrine Neoplasie","NEN der Appendix"],"definition":"Die Endokrinen Appendix-Tumoren sind das häufigste sporadische Neoplasma der Appendix und der zweithäufigste endokrine Tumor im Verdauungstrakt. Sie verursachen keine spezifischen Symptome. Unterschieden werden die klassischen Endokrinen Appendix-Tumoren vom aggressiveren Gobletzell-Karzinom (GCC; s. diese Termini)."},"es":{"name":"Neoplasia neuroendocrina de apéndice","synonyms":["Neoplasia neuroendocrina apendicular","TNE apendicular","TNE de apéndice"],"definition":"El tumor endocrino de apéndice es la neoplasia esporádica del apéndice más común y la segunda más común de los tumores endocrinos digestivos, sin una presentación clínica específica. Se divide en tumor endocrino clásico del apéndice o el más agresivo carcinoma de células caliciformes (GCC; ver estos términos)."},"it":{"name":"Tumore endocrino dell'appendice","synonyms":["Tumore endocrino appendicolare"],"definition":"I tumori endocrini dell'appendice sono le neoplasie sporadiche più comuni dell'appendice e per frequenza sono i secondi tumori endocrini dell'apparato digerente, non associati a un quadro clinico specifico. Comprendono i classici tumori endocrini dell'appendice e il più aggressivo carcinoma a cellule caliciformi."},"nl":{"name":"Neuro-endocrien neoplasma van appendix","synonyms":["Appendiculair NEN","Appendiculair neuro-endocrien neoplasma","NEN van appendix"],"definition":"Endocriene tumor van de appendix is het meest voorkomende neoplasma van de appendix en het tweede meest voorkomende type digestieve endocriene tumor, vaak zonder specifieke klinische kenmerken. Er is een onderverdeling in klassieke endocriene tumor van de appendix en het meer agressieve slijmbekercelcarcinoom (GCC; zie deze termen)."},"pt":{"name":"Tumor endócrino do apêndice"},"pl":{"name":"Guz neuroendokrynny wyrostka robaczkowego","synonyms":["Appendiceal NEN","Appendiceal neuroendocrine neoplasm","NEN of appendix"]},"cs":{"name":"Endokrinní nádor appendixu","synonyms":["Appendiceal NEN","Appendiceal neuroendocrine neoplasm","NEN of appendix"]},"uk":{"name":"Нейроендокринна пухлина апендикса","synonyms":["НЕП аппендіксу","Нейроендокринна пухлина аппендіксу","НЕП аппендіксу"],"definition":"A rare sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC)."},"zh":{"name":"阑尾神经内分泌肿瘤","synonyms":["阑尾神经内分泌瘤"],"definition":"阑尾内分泌肿瘤是阑尾最常见的散发性肿瘤，是消化系统内分泌肿瘤中第二常见的类型，通常没有特殊的临床表现。它们被分为经典的阑尾内分泌瘤和更具侵袭性的杯状细胞癌(GCC，见该类词条)。"},"tr":{"name":"Apendiks nöroendokrin neoplazmı","synonyms":["Apansise ait NEN","Apendiks NEN","Apendiks nöroendokrin neoplazmı"]}},"xrefs":[{"source":"ICD-10","code":"C18.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D37.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B81.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1590340268"},{"source":"MONDO","code":"0015066","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15066","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1879718","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]},{"orpha":481508,"name":"Gastroenteric neuroendocrine neoplasm","classifications":[193,202]}],"children":[{"orpha":329977,"name":"Classic neuroendocrine tumor of appendix","type":"Clinical subtype"},{"orpha":329984,"name":"Goblet cell carcinoma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"12115365[PMID]_21741512[PMID]_25840530[PMID]_8466309[PMID]_25840530[PMID]_22052063[PMID]_28326748[PMID]_27311320[PMID]_27306228[PMID]_26774818[PMID]_23049637[PMID]_20631606[PMID]_19363829[PMID]_17082811[PMID]_10832290[PMID]_10352529[PMID]_10323177[PMID]_14047627[PMID]_18887660[PMID]","terms":[{"hpo":"HP:0006723","label":"Intestinal carcinoid","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011848","label":"Abdominal colic","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030142","label":"Abnormal bowel sounds","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012701","label":"Bowel urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005249","label":"Functional intestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030144","label":"Hypoactive bowel sounds","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010676","label":"Mechanical ileus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003148","label":"Elevated serum acid phosphatase","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030412","label":"Ileal adenocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011749","label":"Adrenocorticotropic hormone excess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031499","label":"Appendiceal mucinous neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005211","label":"Midgut malrotation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001579","label":"Primary hypercortisolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010446","label":"Tricuspid stenosis","frequency":"Very rare (<4-1%)","criteria":null}]}}