{"orpha":97280,"name":"Glucagonoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Glucagonoma syndrome"],"definition":"Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97280/","orphanet_url":"https://www.orpha.net/en/disease/detail/97280","names":{"fr":{"name":"Glucagonome","synonyms":["Syndrome du glucagonome"],"definition":"Tumeur neuroendocrine du pancréas (PNET pour pancreatic neuroendocrine tumor) rare et fonctionnelle, secrétant du glucagon en excès et entraînant un syndrome associant érythème migratoire nécrotique, diabète sucré, anémie, perte de poids, anomalies des muqueuses, thromboembolie, troubles gastro-intestinaux et neuropsychiatriques."},"de":{"name":"Glucagonom","synonyms":["Glucagonom-Syndrom"]},"es":{"name":"Glucagonoma","synonyms":["Síndrome de glucagonoma"],"definition":"El glucagonoma es un tumor neuroendocrino pancreático raro de tipo funcionante (PNET; consulte este término) que hipersecreta glucagón, conduciendo a un síndrome que comprende eritema necrolítico migratorio, diabetes mellitus, anemia, pérdida de peso, anomalías en las mucosas, tromboembolismo, síntomas gastrointestinales y neuropsiquiátricos."},"it":{"name":"Glucagonoma","synonyms":["Sindrome da glucagonoma"],"definition":"Il glucagonoma è un tumore neuroendocrino pancreatico raro (PNET; si veda questo termine) di tipo funzionante, che ipersecerne glucagone, causando una sindrome caratterizzata da eritema necrolitico migrante, diabete mellito, anemia, perdita di peso, anomalie della mucosa, tromboembolismo e sintomi gastrointestinali e neuropsichiatrici."},"nl":{"name":"Glucagonoom","synonyms":["Glucagonoomsyndroom"],"definition":"Een zeldzaam, functionerend type van neuro-endocriene tumor van pancreas (PNET) met hypersecretie van glucagon, wat leidt tot een syndroom bestaande uit necrolytisch migrerend erytheem, diabetes mellitus, anemie, gewichtsverlies, anomalieën van mucosa, trombo-embolie, en gastro-intestinale en neuropsychiatrische symptomen."},"pt":{"name":"Glucagonoma"},"pl":{"name":"Glukagonoma","synonyms":["Zespół glucagonoma"]},"cs":{"name":"Glukagonom","synonyms":["Glukagonový syndrom"]},"uk":{"name":"Глюкагонома","synonyms":["Синдром глюкагономи"],"definition":"Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms."},"zh":{"name":"胰高血糖素瘤","synonyms":["胰高血糖素瘤综合征"],"definition":"胰高血糖素瘤是一种罕见的功能性胰腺神经内分泌肿瘤（PNET；见该词条），由于过度分泌胰高血糖素，导致一些综合症状：包括坏死性游走性红斑、糖尿病、贫血、体重减轻、粘膜异常、血栓栓塞、胃肠道和神经精神症状。"},"tr":{"name":"Glukagonom","synonyms":["Glukagonom sendromu"]}},"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":"1918063179"},{"source":"MONDO","code":"0019959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017689","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2496","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018404","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":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Europe","status":"Validated","source":"9113318[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-06","source":"17122523[PMID]_16699310[PMID]_15538929[PMID]_4134714[PMID]_18957496[PMID]_21763589[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:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001927","label":"Acanthocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","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:0000206","label":"Glossitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031181","label":"Necrolytic migratory erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030895","label":"Abnormal gastrointestinal motility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001438","label":"Abnormality of abdomen morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","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: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:0002570","label":"Steatorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","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}]}}