{"orpha":79643,"name":"Autosomal recessive hyperinsulinism due to SUR1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"],"definition":"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79643/","orphanet_url":"https://www.orpha.net/en/disease/detail/79643","names":{"fr":{"name":"Hyperinsulinisme autosomique récessif par déficit en SUR1","synonyms":["Hypoglycémie hyperinsulinémique autosomique récessif par déficit en SUR1"],"definition":"Hyperinsulinisme congénital isolé rare caractérisé par la présentation néonatale d'une hypoglycémie sévère réfractaire au cours des deux premiers jours de vie, avec réponse limitée au traitement médical, nécessitant dans certains cas une résection pancréatique. Les nouveau-nés sont souvent gros pour leur âge gestationnel et présentent une hépatomégalie légère à modérée, ainsi qu'une forme diffuse d'hyperinsulinisme par déficit en SUR1. Une hypoglycémie persistante, une hyperglycémie et un diabète sucré de type 1 peuvent être observés à un stade plus tardif de la vie. Un coma hypoglycémique ou un état de mal épileptique engageant le pronostic vital ont également été associés."},"de":{"name":"Hyperinsulinismus durch SUR1-Mangel, autosomal-rezessiver","synonyms":["Hyperinsulinämische Hypoglykämie durch SUR1-Mangel"]},"es":{"name":"Hiperinsulinismo autosómico recesivo por deficiencia de SUR1","synonyms":["Hipoglucemia hiperinsulinémica autosómica recesiva por deficiencia de SUR1"],"definition":"Es una forma de hiperinsulinismo aislado, congénito y poco frecuente, caracterizado por la presentación neonatal de grave hipoglucemia refractaria en los primeros dos días de vida, con una respuesta limitada al tratamiento médico, requiriendo resección pancreática en algunos casos. Los neonatos suelen ser grandes para su edad gestacional, con hepatomegalia de leve a moderada y una forma de hiperinsulinismo difuso debido a la deficiencia de SUR1. En edades más tardías, se puede desarrollar hipoglucemia persistente, hiperglucemia y diabetes mellitus tipo 1. Esta enfermedad también se ha asociado a coma hipoglucémico o a estatus epilético potencialmente letales."},"it":{"name":"Iperinsulinismo autosomico recessivo da deficit di SUR1","synonyms":["Ipoglicemia iperinsulinemica autosomica recessiva da deficit di SUR1"],"definition":"È un iperinsulinismo congenito isolato raro, che esordisce nel periodo neonatale con ipoglicemia refrattaria grave (nei primi due giorni di vita) con scarsa risposta alla terapia, che talvolta richiede la resezione pancreatica. Spesso i neonati sono grandi rispetto all'epoca gestazionale e presentano epatomegalia lieve o moderata e una forma diffusa di iperinsulinismo da deficit di SUR1. Successivamente, i pazienti possono sviluppare ipoglicemia persistente, iperglicemia e diabete mellito tipo 1. Possono associarsi il coma ipoglicemico potenzialmente letale o lo stato epilettico."},"nl":{"name":"Autosomaal recessief hyperinsulinisme als gevolg van SUR1-deficiëntie","synonyms":["Autosomaal recessieve hyperinsulinemische hypoglycemie als gevolg van SUR1-deficiëntie"],"definition":"Een zeldzaam, congenitaal, geïsoleerd hyperinsulinisme dat gekarakteriseerd wordt door neonatale presentatie van ernstige refractaire hypoglycemie tijdens de twee eerste levensdagen, met beperkte reactie op medicinale therapie, en soms met nood aan resectie van de pancreas. Nieuwgeborenen zijn vaak groot voor hun gestatieleeftijd, met milde tot matige hepatomegalie en een diffuse vorm van hyperinsulinisme als gevolg van SUR1-deficiëntie. Persisterende hypoglycemie, hyperglycemie en type1 diabetes mellitus kunnen in een latere levensfase ontwikkelen. Levensbedreigende hypoglycemische coma of status epilepticus werden ook reeds geassocieerd."},"pt":{"name":"Hiperinsulinismo autossómico recessivo por deficiência de SUR1"},"pl":{"name":"Autosomalny recesywny hiperinsulinizm z powodu niedoboru SUR1","synonyms":["Autosomalna recesywna hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1"]},"cs":{"name":"Autozomálně recesivní hyperinzulinismus působený deficitem SUR1","synonyms":["Autozomálně recesivní hyperinzulinemická hypoglykémie způsobená deficitem SUR1"]},"uk":{"name":"Аутосомно-рецесивний гіперінсулінізм внаслідок дефіциту SUR1","synonyms":["Аутосомно-рецесивна гіперінсулінемічна гіпоглікемія внаслідок дефіциту SUR1"],"definition":"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated."},"zh":{"name":"SUR1缺乏所致常染色体隐性高胰岛素血症","synonyms":["SUR1缺乏所致常染色体隐性遗传性高胰岛素血症性低血糖症"]},"tr":{"name":"SUR1 eksikliğine bağlı otozomal resesif hiperinsülinizm","synonyms":["SUR1 eksikliğine bağlı otozomal Çekinik 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":"0019333","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191077","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":165988,"name":"Diazoxide-resistant 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":"15562009[PMID]_25733449[PMID]","hgnc":"59","ensembl":"ENSG00000006071","omim":"600509","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}