{"orpha":97279,"name":"Insulinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97279/","orphanet_url":"https://www.orpha.net/en/disease/detail/97279","names":{"fr":{"name":"Insulinome","definition":"Forme de tumeur neuroendocrine fonctionnelle du pancréas, généralement caractérisée par une petite lésion isolée du pancréas à l'origine d'une hypoglycémie hyperinsulinémique."},"de":{"name":"Insulinom","definition":"Eine Form eines funktionellen neuroendokrinen Tumors der Bauchspeicheldrüse, der in der Regel durch eine kleine solitäre Pankreasläsion gekennzeichnet ist, die eine hyperinsulinämische Hypoglykämie verursacht."},"es":{"name":"Insulinoma","definition":"Es un tipo de tumor neuroendocrino pancreático funcionante que suele se único y de pequeño tamaño, que causa hipoglucemia hiperinsulinémica."},"it":{"name":"Insulinoma","definition":"L'insulinoma è un tumore neuroendocrino pancreatico funzionante, caratterizzato di solito da una piccola lesione singola del pancreas che causa ipoglicemia iperinsulinemica."},"nl":{"name":"Insulinoom","definition":"Een vorm van functionele neuro-endocriene tumor van pancreas, doorgaans gekenmerkt door een solitaire, kleine pancreatische laesie die hyperinsulinemische hypoglycemie veroorzaakt."},"pt":{"name":"Insulinoma","definition":"Forma de tumor neuroendócrino pancreático funcionante caracterizado habitualmente por uma pequena lesão pancreática solitária que causa hipoglicemia hiperinsulinémica."},"pl":{"name":"Insulinoma"},"cs":{"name":"Inzulinom"},"uk":{"name":"Інсулінома","definition":"A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia."},"zh":{"name":"胰岛素瘤","definition":"胰岛素瘤是一种最常见的功能性胰腺神经内分泌肿瘤（见该词条），最常见的特征是孤立的、小的胰腺病变，从而导致高胰岛素血症性低血糖。"},"tr":{"name":"İnsülinoma"}},"xrefs":[{"source":"ICD-10","code":"C25.4","qualifier":"BTNT","icd_relation":"index","validated":true},{"source":"ICD-10","code":"D13.7","qualifier":"BTNT","icd_relation":"index","validated":true},{"source":"ICD-10","code":"D37.7","qualifier":"BTNT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C10.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1924450368"},{"source":"MONDO","code":"0005048","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"5048","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0021670","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10022498","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":[{"symbol":"YY1","name":"YY1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24326773[PMID]","hgnc":"12856","ensembl":"ENSG00000100811","omim":"600013","loci":["14q32.2"]},{"symbol":"MEN1","name":"menin 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26307114[PMID]","hgnc":"7010","ensembl":"ENSG00000133895","omim":"613733","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Ireland","status":"Validated","source":"2575263[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Worldwide","status":"Validated","source":"23430217[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.56,"area":"Japan","status":"Validated","source":"24499825[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-25","source":"1677058[PMID]_10190379[PMID]_25594862[PMID]_26107678[PMID]_19141587[PMID]_23094726[PMID]","terms":[{"hpo":"HP:0006476","label":"Abnormality of the pancreatic islet cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001958","label":"Nonketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010534","label":"Transient global amnesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007159","label":"Fluctuations in consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012051","label":"Reactive hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002044","label":"Zollinger-Ellison syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010832","label":"Abnormality of pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100631","label":"Neoplasm of the adrenal gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null}]}}