{"orpha":276556,"name":"Hyperinsulinism due to UCP2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia due to UCP2 deficiency"],"definition":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276556/","orphanet_url":"https://www.orpha.net/en/disease/detail/276556","names":{"fr":{"name":"Hyperinsulinisme par déficit en UCP2","synonyms":["Hypoglycémie hyperinsulinémique par déficit en UCP2"],"definition":"Forme rare d'hyperinsulinisme congénital diffus sensible au diazoxide due à un déficit en UCP2 et caractérisée par des épisodes d'hypoglycémie survenant dès la période néonatale, une bonne réponse clinique au diazoxide, et dont la nature est probablement transitoire et la résolution spontanée."},"de":{"name":"Hyperinsulinismus durch UCP2-Mangel","synonyms":["Hypoglykämie, hyperinsulinämische, durch UCP2-Mangel"],"definition":"Eine seltene Form des kongenitalen Diazoxid-sensitiven diffusen Hyperinsulinismus, der auf einen UCP2-Mangel zurückzuführen ist und durch hypoglykämische Episoden in der Neugeborenenperiode, ein gutes klinisches Ansprechen auf Diazoxid und einen wahrscheinlich transienten Charakter der Erkrankung mit spontaner Rückbildung gekennzeichnet ist."},"es":{"name":"Hiperinsulinismo por deficiencia de UCP2","synonyms":["Hipoglucemia hiperinsulinémica por deficiencia de UCP2"],"definition":"Es una forma poco frecuente de hiperinsulinismo difuso congénito sensible al diazóxido por deficiencia de UCP2 caracterizada por episodios de hipoglucemia desde el periodo neonatal, buena respuesta clínica al diazóxido y una probable naturaleza transitoria de la enfermedad con resolución espontánea."},"it":{"name":"Iperinsulinismo da deficit di UCP2","synonyms":["Ipoglicemia iperinsulinemica da deficit di UCP2"],"definition":"L'iperinsulinismo da deficit di UCP2 (HIUCP2) è una forma di iperinsulinismo diffuso (DHI; si veda questo termine) sensibile al diazossido; è caratterizzato da episodi ipoglicemici, che esordiscono nel periodo neonatale, da una buona risposta clinica al diazossido, e da una probabile natura transitoria della malattia, con una guarigione spontanea."},"nl":{"name":"Hyperinsulinisme door UCP2-deficiëntie","synonyms":["Hyperinsulinemische hypoglycemie door UCP2-deficiëntie"],"definition":"Een zeldzame vorm van congenitaal diazoxidesensitief diffuus hyperinsulinisme door deficiëntie van UCP2, gekenmerkt door hypoglycemische episodes vanaf de neonatale periode, een goede klinische reactie op diazoxide, en waarschijnlijk een transiënt karakter met spontane resolutie."},"pt":{"name":"Hiperinsulinismo por deficiência de UCP2","definition":"Forma rara de hiperinsulinismo difuso congénito sensível ao diazóxido devido à deficiência de UCP2 e caracterizada por episódios hipoglicémicos desde o período neonatal, boa resposta clínica ao diazóxido e apresenta um provável caráter transitório com resolução espontânea."},"pl":{"name":"Hiperinsulinizm z powodu niedoboru UCP2","synonyms":["Hipoglikemia hiperinsulinemiczna z powodu niedoboru UCP2"],"definition":"Rzadka postać wrodzonego rozlanego hiperinsulinizmu wrażliwego na diazoksyd, spowodowana niedoborem UCP2, charakteryzująca się epizodami hipoglikemii od okresu noworodkowego, dobrą odpowiedzią kliniczną na diazoksyd i prawdopodobnie przemijającą naturą z samoistnym ustępowaniem choroby."},"cs":{"name":"Hyperinzulinismus způsobený deficitem UCP2","synonyms":["Hyperinzulinemická hypoglykémie způsobená deficitem UCP2"]},"uk":{"name":"Гіперінсулінізм внаслідок дефіциту UCP2","synonyms":["Гіперінсулінемічна гіпоглікемія внаслідок дефіциту UCP2"],"definition":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution."},"zh":{"name":"UCP2基因缺陷所致高胰岛素血症","synonyms":["UCP2基因缺陷所致高胰岛素低血糖"],"definition":"UCP2基因缺陷所致高胰岛素血症（HIUCP2）是一种二氮嗪敏感的弥漫性高胰岛素血症（DHI，见本术语），其特征是新生儿低血糖，对二氮嗪治疗反应良好，并可能是一种暂时性的疾病，可自行消退。"},"tr":{"name":"UCP2 eksikliğine bağlı hiperinsülinizm","synonyms":["UCP2 eksikliğine bağlı hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"ICD-10","code":"E16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A45","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017183","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303082","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":165985,"name":"Diazoxide-sensitive diffuse hyperinsulinism","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"UCP2","name":"uncoupling protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19065272[PMID]_25733449[PMID]","hgnc":"12518","ensembl":"ENSG00000175567","omim":"601693","loci":["11q13.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19065272[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-09","source":"29280746[PMID]_31414570[PMID]_30246418[PMID]_19065272[PMID]_21967988[PMID]","terms":[{"hpo":"HP:0040299","label":"Decreased circulating free fatty acid level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031084","label":"Excessive insulin response to glucagon test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030796","label":"Increased C-peptide level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012051","label":"Reactive hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001069","label":"Episodic hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031224","label":"Diffuse pancreatic islet hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001325","label":"Hypoglycemic coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null}]}}