{"orpha":276575,"name":"Autosomal dominant hyperinsulinism due to SUR1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"],"definition":"A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to <i>ABCC8</i> variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276575/","orphanet_url":"https://www.orpha.net/en/disease/detail/276575","names":{"fr":{"name":"Hyperinsulinisme autosomique dominant par déficit en SUR1","synonyms":["Hypoglycémie hyperinsulinémique autosomique dominant par déficit en SUR1"],"definition":"Forme d'hyperinsulinisme diffus congénital sensible au diazoxide, due à des mutations du gène <i>ABCC8</i> caractérisée par des épisodes d'hypoglycémie généralement légers, échappant à la détection pendant la petite enfance et présentant habituellement une bonne réponse clinique au diazoxide. L'hyperinsulinisme autosomique dominant présente généralement un phénotype plus léger que celui résultant de mutations récessives du canal potassique (K-ATP)."},"de":{"name":"Hyperinsulinismus durch SUR1-Mangel, autosomal-dominanter","synonyms":["Hypoglykämie, hyperinsulinämische, durch SUR1-Mangel"],"definition":"Eine Form des kongenitalen Diazoxid-sensitiven diffusen Hyperinsulinismus, die auf <i>ABCC8</i>-Varianten zurückzuführen ist und durch hypoglykämische Episoden gekennzeichnet ist, die in der Regel mild sind, im Säuglingsalter oftmals nicht entdeckt werden und in der Regel gut auf Diazoxid ansprechen. Der autosomal-dominante Hyperinsulinismus weist in der Regel einen milderen Phänotyp auf als der durch aurosomal-rezessive Mutationen des Kaliumkanals (K-ATP) bedingte."},"es":{"name":"Hiperinsulinismo autosómico dominante por deficiencia de SUR1","synonyms":["Hipoglucemia hiperinsulinémica autosómica dominante por deficiencia de SUR1"],"definition":"Es una forma de hiperinsulinismo difuso congénito sensible al diazóxido debido a variantes de <i>ABCC8</i> caracterizado por episodios de hipoglucemia que suelen ser leves, pasando inadvertidos durante la infancia, y que suelen presentar una buena respuesta clínica al diazóxido. El hiperinsulinismo autosómico dominante suele tener un fenotipo más leve en comparación con el resultante de las mutaciones recesivas del canal de potasio (K-ATP)."},"it":{"name":"Iperinsulinismo autosomico dominante da deficit di SUR1","synonyms":["Ipoglicemia iperinsulinemica autosomica dominante da deficit di SUR1"],"definition":"L'iperinsulinismo autosomico dominante da deficit di SUR1 è una forma di iperinsulinismo diffuso (DHI) sensibile al diazossido; è caratterizzato da episodi di ipoglicemia, di solito lievi, che passano inosservati durante l'infanzia, e da una buona risposta clinica al diazossido. In genere l'iperinsulinismo autosomico dominante da deficit di SUR1 presenta un quadro clinico più lieve rispetto a quello correlato alle mutazioni recessive di K-ATP (forme recessive di iperinsulinismo resistente al diazossido; si veda questo termine)."},"nl":{"name":"Autosomaal dominant hyperinsulinisme door SUR1-deficiëntie","synonyms":["Autosomaal dominante hyperinsulinemische hypoglycemie door SUR1-deficiëntie"],"definition":"Een vorm van congenitaal diazoxidesensitief diffuus hyperinsulinisme door varianten van <i>ABCC8</i>, gekenmerkt door hypoglycemische episodes die meestal mild zijn, ontsnappen aan detectie in de zuigelingentijd, en doorgaans een goede klinische reactie op diazoxide vertonen. Autosomaal dominant hyperinsulinisme heeft meestal een milder fenotype dan vormen die het gevolg zijn van recessieve mutaties in kaliumkanalen (K-ATP)."},"pt":{"name":"Hiperinsulinismo autossómico dominante por deficiência de SUR1","definition":"Forma de hiperinsulinismo difuso congénito sensível ao diazóxido devido a variantes no gene ABCC8 e caracterizada por episódios hipoglicémicos que geralmente são leves, indetetáveis durante a infância e geralmente apresentam boa resposta clínica ao diazóxido. O hiperinsulinismo autossómico dominante geralmente apresenta um fenótipo mais fruste quando comparado ao resultante de mutações recessivas nos canais de potássio (K-ATP)."},"pl":{"name":"Autosomalny dominujący hiperinsulinizm z powodu niedoboru SUR1","synonyms":["Autosomalna dominująca hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1"],"definition":"Postać wrodzonego rozlanego hiperinsulinizmu wrażliwego na diazoksyd, spowodowana wariantami w genie ABCC8 i charakteryzująca się epizodami hipoglikemii, które są zwykle łagodne, rzadko wykrywane w okresie niemowlęcym i zwykle wykazują dobrą odpowiedź kliniczną na diazoksyd. Autosomalny dominujący hiperinsulinizm ma zwykle łagodniejszy fenotyp w porównaniu z chorobą związaną z recesywnymi mutacjami w genach kodujących białka kanału potasowego (K-ATP)."},"cs":{"name":"Autozomálně dominantní hyperinzulinismus způsobený deficitem SUR1","synonyms":["Autozomálně dominantní hyperinzulinemická hypoglykémie způsobená deficitem SUR1"]},"uk":{"name":"Аутосомно-домінантний гіперінсулінізм внаслідок дефіциту SUR1","synonyms":["Аутосомно-домінантна гіперінсулінемічна гіпоглікемія внаслідок дефіциту SUR1"],"definition":"A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to <i>ABCC8</i> variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations."},"zh":{"name":"SUR1基因缺陷所致常染色体显性高胰岛素血症","synonyms":["SUR1基因缺陷所致常染色体显性高胰岛素低血糖症"],"definition":"SUR1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，通常对二氮嗪有治疗反应良好。SUR1缺乏引起的常染色体显性遗传高胰岛素症比常染色体隐性遗传K-ATP突变（抗二氮氧化合物的隐性高胰岛素症的隐性形式）表型更轻。"},"tr":{"name":"SUR1 eksikliğine bağlı otozomal dominant hiperinsülinizm","synonyms":["SUR1 eksikliğine bağlı otozomal baskın hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"OMIM","code":"256450","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":"0017184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274080","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":"ABCC8","name":"ATP binding cassette subfamily C member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11018078[PMID]_25733449[PMID]","hgnc":"59","ensembl":"ENSG00000006071","omim":"600509","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":"21967988[PMID]_29280746[PMID]_23275527[PMID]_29750770[PMID]_31414570[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: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: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:0031223","label":"Focal pancreatic islet hyperplasia","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: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}]}}