{"orpha":100085,"name":"Primary hepatic neuroendocrine carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100085/","orphanet_url":"https://www.orpha.net/en/disease/detail/100085","names":{"fr":{"name":"Carcinome neuroendocrine hépatique primaire","definition":"Tumeur rare du foie pouvant se manifester par des douleurs abdominales ou des ballonnements, ainsi que par des diarrhées ou une perte de poids. Plus de 10&nbsp;% des cas sont asymptomatiques et, dans de rares cas, un syndrome carcinoïde peut être observé."},"de":{"name":"Tumor, neuroendokriner, primär hepatischer"},"es":{"name":"Carcinoma neuroendocrino hepático primario","definition":"El carcinoma neuroendocrino hepático primario (PHNEC) es un tumor hepático raro que puede manifestarse con dolor abdominal o plenitud, así como con diarrea o pérdida de peso. Más del 10% de los casos son asintomáticos y en casos raros se puede observar un síndrome carcinoide."},"it":{"name":"Tumore endocrino epatico","definition":"Il carcinoma neuroendocrino epatico primitivo (PHNEC) è un tumore epatico raro che si manifesta con dolore o tensione addominale, diarrea o perdita di peso. In oltre il 10% dei casi, i pazienti sono asintomatici e raramente si osserva una sindrome carcinoide."},"nl":{"name":"Primair neuro-endocrien carcinoom van lever","synonyms":["Primair hepatisch neuro-endocrien carcinoom"],"definition":"Primair hepatisch neuro-endocrien carcinoom (PHNEC) is een zeldzame levertumor die zich kan manifesteren met pijn in de buik of een vol gevoel, alsook diarree of gewichtsverlies. Meer dan 10% van de gevallen zijn asymptomatisch en in zeldzame gevallen kan een carcinoïdsyndroom geobserveerd worden."},"pt":{"name":"Tumor endócrino hepático"},"pl":{"name":"Pierwotny neuroendokrynny guz wątroby","definition":"Pierwotny rak neuroendokrynowy wątroby (PHNEC) jest rzadkim nowotworem wątroby, który może objawiać się bólem brzucha lub poczuciem sytości, a także biegunką czy utratą masy ciała. Ponad 10% przypadków przebiega bezobjawowo a w rzadkich przypadkach można zaobserwować zespół rakowiaka."},"cs":{"name":"Primární neuroendokrinní karcinom jater","synonyms":["Primární jaterní karcinoid"]},"uk":{"name":"Первинна нейроендокринна карцинома печінки","definition":"Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed."},"zh":{"name":"原发性肝神经内分泌癌","definition":"原发性肝神经内分泌癌(PHNEC)是一种罕见的肝脏肿瘤，可表现为腹痛、腹胀、腹泻或体重减轻。超过10%的病例无症状，极少数病例可观察到类癌综合征。"},"tr":{"name":"Primer hepatik nöroendokrin karsinom"}},"xrefs":[{"source":"ICD-10","code":"C22.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C12.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3273031","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19760","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100101,"name":"Neuroendocrine tumor with other location","classifications":[193,202]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":424933,"name":"Rare malignant epithelial tumor of liver and intrahepatic biliary tract","classifications":[183,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"8227395[PMID]_24944650[PMID]_ [EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-13","source":"8453589[PMID]_19031017[PMID]_20133228[PMID]_21329891[PMID]_24761861[PMID]_25051214[PMID]_26882787[PMID]","terms":[{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000007","label":"Bronchoconstriction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001407","label":"Hepatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005230","label":"Biliary tract obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010638","label":"Elevated alkaline phosphatase of hepatic origin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001046","label":"Intermittent jaundice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006575","label":"Intrahepatic cholestasis with episodic jaundice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100012","label":"Neoplasm of the eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031029","label":"Elevated carcinoembryonic antigen level","frequency":"Excluded (0%)","criteria":null}]}}