{"orpha":411593,"name":"Insulin autoimmune syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hirata disease"],"definition":"A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411593/","orphanet_url":"https://www.orpha.net/en/disease/detail/411593","names":{"fr":{"name":"Syndrome hypoglycémique auto-immun","synonyms":["Maladie d'Hirata"],"definition":"Maladie endocrinienne rare caractérisée par une hypoglycémie hyperinsulinémique associée à la présence d'auto-anticorps à l'insuline endogène sans une exposition préalable à de l'insuline exogène. Généralement, les patients présentent à l'âge adulte une hypoglycémie postprandiale, à jeun ou à l'effort, souvent accompagnée de symptômes neuroglycopéniques prononcés. Les tests biologiques révèlent un taux d'insuline sérique nettement élevé ainsi qu'une augmentation du peptide C et de la proinsuline. Cette maladie peut être associée à d'autres maladies auto-immunes, à une gammapathie monoclonale et/ou à une exposition récente à certains médicaments."},"de":{"name":"Antiinsulinantikörper-Syndrom","synonyms":["Autoimmunes Insulin-Syndrom","Hirata-Krankheit"],"definition":"Eine seltene endokrine Erkrankung, die durch eine hyperinsulinämische Hypoglykämie gekennzeichnet ist, die mit dem Vorhandensein von Autoantikörpern gegen endogenes Insulin einhergeht, ohne dass zuvor eine Exposition gegenüber exogenem Insulin stattgefunden hat. Die Patienten stellen sich in der Regel im Erwachsenenalter mit postprandialer, nüchterner oder trainingsinduzierter Hypoglykämie vor, oft mit ausgeprägten neuroglykopenischen Symptomen. Laboruntersuchungen zeigen einen deutlich erhöhten Seruminsulinspiegel sowie erhöhte C-Peptide und Proinsulin. Die Erkrankung kann mit anderen Autoimmunerkrankungen, monoklonaler Gammopathie und/oder einer kürzlichen Exposition gegenüber bestimmten Medikamenten einhergehen."},"es":{"name":"Síndrome autoinmune por insulina","synonyms":["Enfermedad de Hirata"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por hipoglucemia hiperinsulinémica asociada con la presencia de autoanticuerpos contra la insulina endógena sin exposición previa a la insulina exógena. Los pacientes se presentan habitualmente en la edad adulta con hipoglucemia posprandial inducida por el ayuno o el ejercicio, a menudo con síntomas neuroglucopénicos pronunciados. Las pruebas de laboratorio revelan niveles marcadamente elevados de insulina sérica, así como aumento del péptido C y de la proinsulina. Esta entidad puede estar asociada con otras enfermedades autoinmunes, gammapatía monoclonal y/o exposición reciente a ciertos medicamentos."},"it":{"name":"Sindrome insulinica autoimmune","synonyms":["Malattia di Hirata"],"definition":"Si tratta di un'endocrinopatia rara, caratterizzata da ipoglicemia iperinsulinemica associata ad autoanticorpi diretti contro l'insulina endogena, in assenza di una precedente esposizione all'insulina esogena. Di solito la malattia esordisce nell'età adulta con ipoglicemia postprandiale, indotta dal digiuno o dall'esercizio fisico, spesso con sintomi neuroglicopenici marcati. Gli esami di laboratorio evidenziano livelli molto elevati di insulina nel siero ed un aumento del peptide C e della proinsulina. La malattia può associarsi ad altre malattie autoimmuni, alla gammopatia monoclonale e/o ad un'assunzione recente di alcuni farmaci."},"nl":{"name":"Insuline-auto-immuun syndroom","synonyms":["Ziekte van Hirata"],"definition":"Een zeldzame endocriene aandoening, gekarakteriseerd door hyperinsulinemische hypoglycemie geassocieerd met aanwezigheid van auto-antilichamen tegen endogeen insuline zonder voorafgaande blootstelling aan exogeen insuline. Patiënten presenteren zich meestal in de volwassenheid met postprandiale of door vasten of inspanning geïnduceerde hypoglycemie, vaak met uitgesproken neuroglycopenische symptomen. Laboratoriumonderzoek toont uitgesproken verhoogd gehalte van insuline in serum, alsook toename van C-peptide en pro-insuline. De aandoening kan geassocieerd zijn met andere auto-immuunziekten, monoklonale gammopathie, en/of recente blootstelling aan bepaalde medicatie."},"pt":{"name":"Síndrome autoimune da insulina"},"pl":{"name":"Autoimmunologiczny zespół insulinowy/Zespół autoimmunologicznej hipoglikemii/Zespół autoimmunologicznej hiperinsulinemii","synonyms":["Choroba Hirata"]},"cs":{"name":"Inzulinový autoimunitní syndrom","synonyms":["Hirataova nemoc"]},"uk":{"name":"Інсуліновий аутоімунний синдром","synonyms":["Хвороба Хірата"],"definition":"A rare endocrine disease characterized by hyperinsulinemic hypoglycemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting-, or exercise-induced hypoglycemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications."},"zh":{"name":"胰岛素自身免疫综合征","synonyms":["平田病"],"definition":"一种罕见的内分泌疾病，其特征是高胰岛素血症性低血糖，与内源性胰岛素自身抗体的产生相关，且无事先接触过外源性胰岛素。患者通常在成年期出现餐后，空腹或运动引起的低血糖症，通常伴有明显的神经血糖症状。实验室检查显示血清胰岛素显着升高，以及C肽和胰岛素原升高。该病可能与其他自身免疫性疾病，单克隆丙种球蛋白病和/或近期接触某些药物使用有关。"},"tr":{"name":"İnsülin otoimmün sendromu","synonyms":["Hirata hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"E16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0854359","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10808","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10022472","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":443095,"name":"Hyperinsulinemic hypoglycaemia","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":404.0,"area":"Worldwide","status":"Validated","source":"24111525[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.017,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-04","source":"25390580[PMID]_22275456[PMID]_24111525[PMID]","terms":[{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005059","label":"Arthralgia/arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001958","label":"Nonketotic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012051","label":"Reactive hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}