{"orpha":276580,"name":"Autosomal dominant hyperinsulinism due to Kir6.2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dominant KATP hyperinsulinism due to Kir6.2 deficiency","Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"],"definition":"A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276580/","orphanet_url":"https://www.orpha.net/en/disease/detail/276580","names":{"fr":{"name":"Hyperinsulinisme autosomique dominant par déficit en Kir6.2","synonyms":["Hypoglycémie hyperinsulinémique autosomique dominant par déficit en Kir6.2"],"definition":"Forme d'hyperinsulinisme diffus sensible au diazoxide (DHI) caractérisée par des épisodes hypoglycémiques généralement légers, passant inaperçus pendant la petite enfance, et par une bonne réponse clinique au diazoxyde (même si certains cas résistent au médicament). L'hyperinsulinisme autosomique dominant par déficit en Kir6.2 présente généralement un tableau clinique plus léger par rapport à celui lié aux mutations récessives du canal K+ (K-ATP) (formes récessives d'hyperinsulinisme résistant au diazoxide)."},"de":{"name":"Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter","synonyms":["Hypoglykämie, hyperinsulinämische, durch Kir6.2-Mangel"]},"es":{"name":"Hiperinsulinismo autosómico dominante por deficiencia de Kir6.2","synonyms":["Hipoglucemia hiperinsulinémica autosómica dominante por deficiencia de Kir6.2"],"definition":"Es una forma de hiperinsulinismo difuso (DHI) con buena respuesta clínica al diazóxido (aunque se han descrito casos refractarios) caracterizada por episodios hipoglucémicos que, por lo general, son leves y pasan inadvertidos durante la infancia. Esta forma de hiperinsulinismo presenta, por lo habitual, un fenotipo más leve en comparación con el que resulta de mutaciones recesivas en el canal de potasio dependiente de ATP (KATP) (formas recesivas de hiperinsulinismo resistente al diazóxido)."},"it":{"name":"Iperinsulinismo autosomico dominante da deficit di Kir6.2","synonyms":["Ipoglicemia iperinsulinemica autosomica dominante da deficit di Kir6.2"],"definition":"L'iperinsulinismo autosomico dominate da deficit di Kir6.2 è una forma di iperinsulinismo diffuso sensibile al diazossido (DHI); è caratterizzato da episodi di ipoglicemia, di solito lievi, che passano inosservati durante l'infanzia, e da una buona risposta clinica al diazossido (anche se alcuni casi sono resistenti al farmaco). In genere, l'iperinsulinismo autosomico dominate da deficit di Kir6.2 presenta un quadro clinico più lieve rispetto a quello correlato alle mutazioni recessive del canale K+ (K-ATP) (forme recessive di iperinsulinismo resistente al diazossido; si veda questo termine)."},"nl":{"name":"Autosomaal dominant hyperinsulinisme door Kir6.2-deficiëntie","synonyms":["Autosomaal dominante hyperinsulinemische hypoglycemie door Kir6.2-deficiëntie","Dominant KATP-hyperinsulinisme door Kir6.2-deficiëntie"],"definition":"Een vorm van diazoxidesensitief diffuus hyperinsulinisme (DHI), gekarakteriseerd door hypoglycemische episodes die meestal mild zijn, ontsnappen aan detectie in de zuigelingentijd, en doorgaans een goede klinische reactie op diazoxide vertonen (hoewel sommigen resistent zijn tegen diazoxide). Autosomaal dominant hyperinsulinisme door Kir6.2-deficiëntie vertoont doorgaans een milder fenotype dan vormen door recessieve mutaties in K+ (K-ATP) kanalen (recessieve vormen van diazoxideresistent hyperinsulinisme)."},"pt":{"name":"Hiperinsulinismo autossómico dominante por deficiência de Kir6.2"},"pl":{"name":"Autosomalny dominujący hiperinsulinizm z powodu niedoboru Kir6.2","synonyms":["Autosomalna dominująca hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2"]},"cs":{"name":"Autozomálně dominantní hyperinzulinismus způsobený deficitem Kir6.2","synonyms":["Autozomálne dominantní hyperinzulinemická hypoglykémie zpusobená deficitem Kir6.2","Autozomálně dominantní hyperinzulinemická hypoglykémie způsobená deficitem Kir6.2","Dominantní KATP hyperinzulinismus způsobený deficitem Kir6.2"]},"uk":{"name":"Аутосомно-домінантний гіперінсулінізм внаслідок дефіциту Kir6.2","synonyms":["Аутосомно-домінантна гіперінсулінемічна гіпоглікемія внаслідок дефіциту Kir6.2","Домінантний KATP-гіперінсулінізм внаслідок дефіциту Kir6.2"],"definition":"A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)."},"zh":{"name":"Kir6.2缺乏所致常染色体显性高胰岛素血症","synonyms":["Kir6.2缺陷所致常染色体显性高胰岛素低血糖"],"definition":"Kir6.2缺陷所致常染色体显性遗传高胰岛素血症是一种对二氮嗪敏感的弥漫性高胰岛素血症（DHI），其特征是轻度低血糖发作，婴儿期常不能发现，通常对二氮嗪治疗反应良好（部分有二氮氧化合物抵抗）。Kir6.2缺乏所致常染色体显性遗传高胰岛素症比常染色体隐性遗传K+（K-ATP）通道突变（二氮氧化合物抵抗的常染色体隐性遗传高胰岛素症）表型更轻。"},"tr":{"name":"Kir6.2 eksikliğine bağlı otozomal dominant hiperinsülinizm","synonyms":["Kir6.2 eksikliğine bağlı baskın KATP hiperinsülinizm","Kir6.2 eksikliğine bağlı otozomal baskın hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"OMIM","code":"601820","qualifier":"NTBT","icd_relation":null,"validated":true},{"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":"0017185","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274081","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":"KCNJ11","name":"potassium inwardly rectifying channel subfamily J member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18596924[PMID]_25733449[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-09","source":"31414570[PMID]_29280746[PMID]_21967988[PMID]_31464105[PMID]","terms":[{"hpo":"HP:0031084","label":"Excessive insulin response to glucagon test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","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: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:0004924","label":"Abnormal oral glucose tolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031224","label":"Diffuse pancreatic islet hyperplasia","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:0002173","label":"Hypoglycemic seizures","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: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:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","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},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null}]}}