{"orpha":97278,"name":"PPoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pancreatic polypeptidoma"],"definition":"PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97278/","orphanet_url":"https://www.orpha.net/en/disease/detail/97278","names":{"fr":{"name":"PPome","synonyms":["Polypeptidome pancréatique","Tumeur à polypeptide pancréatique"],"definition":"Le Ppome est un type de tumeur endocrine pancréatique qui hypersécrète le polypeptide pancréatique (PP) sans causer de syndrome d'hypersécrétion (non-fonctionnel). Il se caractérise par des symptômes non spécifiques, tels qu'une perte de poids, une douleur abdominale, une jaunisse, une diarrhée et/ou une masse abdominale, conduisant de ce fait à un diagnostic tardif. Le Ppome peut être associé à la néoplasie endocrinienne multiple type 1 (NEM1)."},"de":{"name":"PPoma","synonyms":["Pankreatisches Polypeptidom"]},"es":{"name":"PPoma","definition":"El PPoma es un tipo de tumor endocrino pancreático (consulte este término) que hipersecreta el polipéptido pancreático (PP) pero no produce un síndrome de hipersecreción (es no funcionante) y en su lugar se presenta sólo con síntomas no específicos tales como pérdida de peso, dolor abdominal, ictericia, diarrea y/o una masa abdominal, resultando, por consiguiente, en un diagnóstico tardío. El PPoma puede asociarse con la neoplasia endocrina múltiple 1 (MEN-1; consulte este término)."},"it":{"name":"PPoma","synonyms":["Polipeptidoma pancreatico"],"definition":"Il PPoma è un tumore endocrino pancreatico (si veda questo termine) che secerne elevate quantità del polipeptide pancreatico (PP), che di per sé non causa una sindrome da ipersecrezione (non è funzionante); si manifesta solo con sintomi aspecifici quali la perdita del peso, il dolore addominale, l'ittero, la diarrea e/o una massa addominale, e ciò comporta un ritardo nella diagnosi. Il PPoma può associarsi alla neoplasia endocrina multipla tipo 1 (MEN 1; si veda questo termine)."},"nl":{"name":"PPoom","synonyms":["Pancreatisch polypeptidoom"],"definition":"Een type tumor van endocriene pancreas, met hypersecretie van pancreatisch polypeptide (PP). De tumor veroorzaakt echter geen hypersecretiesyndroom (is niet-functionerend), en presenteert zich in plaats daarvan met enkel aspecifieke symptomen zoals gewichtsverlies, abdominale pijn, geelzucht, diarree en/of abdominale massa, wat dus leidt tot een late diagnose. PPoom kan geassocieerd zijn met multipele endocriene neoplasie 1 (MEN1)."},"pt":{"name":"PPoma"},"pl":{"name":"Nowotwór wydzielający polipeptyd trzustkowy","synonyms":["Wyspiak wydzielający polipeptyd trzustkowy"]},"cs":{"name":"PPom","synonyms":["Pankreatický polypeptidom"]},"uk":{"name":"PPoma","synonyms":["Поліпептидома підшлункової залози"],"definition":"PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term)."},"zh":{"name":"胰多肽瘤","synonyms":["胰多肽瘤"],"definition":"胰多肽瘤(Ppoma)是一种胰腺内分泌肿瘤（见该词条），它过度分泌胰多肽（PP），但不会引起高分泌综合征（无功能），而是只表现为非特异性症状，如体重减轻、腹痛、黄疸、腹泻和/或腹部肿块，从而导致无法及时诊断。PPoma可与多发性内分泌肿瘤1（MEN-1；见该词条）相关。"},"tr":{"name":"PPom","synonyms":["Pankreas polipeptidoması"]}},"xrefs":[{"source":"ICD-10","code":"D37.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"E16.8","qualifier":"ND","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C10.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1180851464"},{"source":"MONDO","code":"0019957","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346407","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":506060,"name":"Functioning neuroendocrine tumor of pancreas","classifications":[152,193,202]}],"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"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-01","source":"26742109[PMID]_22997445[PMID]_22261872[PMID]_23582916[PMID]_18798544[PMID]_10940685[PMID]_2440390[PMID]_18941127[PMID]_22052063[PMID]","terms":[{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100833","label":"Neoplasm of the small intestine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001438","label":"Abnormality of abdomen morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","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:0030144","label":"Hypoactive bowel sounds","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:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012334","label":"Extrahepatic cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001046","label":"Intermittent jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006723","label":"Intestinal carcinoid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030145","label":"Lack of bowel sounds","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001031","label":"Subcutaneous lipoma","frequency":"Very rare (<4-1%)","criteria":null}]}}