{"orpha":79644,"name":"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 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 Kir6.2 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-79644/","orphanet_url":"https://www.orpha.net/en/disease/detail/79644","names":{"fr":{"name":"Hyperinsulinisme autosomique récessif par déficit en Kir6.2","synonyms":["Hypoglycémie hyperinsulinémique autosomique récessif par déficit en Kir6.2"],"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 Kir6.2. 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 Kir6.2-Mangel, autosomal-rezessiver","synonyms":["Hyperinsulinämische Hypoglykämie durch Kir6.2-Mangel"]},"es":{"name":"Hiperinsulinismo autosómico recesivo por deficiencia de Kir6.2","synonyms":["Hipoglucemia hiperinsulinémica autosómica recesiva por deficiencia de Kir6.2"],"definition":"Es una forma de hiperinsulinismo aislado, congénito y poco frecuente, caracterizado por la manifestación neonatal de grave hipoglucemia refractaria en los primeros dos días de vida, con escasa respuesta al tratamiento médico y que requiere, en algunos casos, resección pancreática. Los recién nacidos suelen ser grandes para su edad gestacional, con hepatomegalia de leve a moderada y una forma de hiperinsulinismo difuso debido a la deficiencia de Kir6.2. En edades más tardías, se puede desarrollar hipoglucemia persistente, hiperglucemia y diabetes mellitus tipo 1. Esta enfermedad también asocia coma hipoglucémico o estatus epiléptico potencialmente letales."},"it":{"name":"Iperinsulinismo autosomico recessivo da deficit di Kir6.2","synonyms":["Ipoglicemia iperinsulinemica autosomica recessiva da deficit di Kir6.2"],"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 al trattamento, che talvolta richiede la resezione pancreatica. Spesso i neonati sono grandi rispetto all'epoca gestazionale e presentano epatomegalia lieve o moderata e un iperinsulinismo diffuso da deficit di Kir6.2. 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 Kir6.2-deficiëntie","synonyms":["Autosomaal recessieve hyperinsulinemische hypoglycemie als gevolg van Kir6.2-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 Kir6.2-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 Kir6"},"pl":{"name":"Autosomalny recesywny hiperinsulinizm z powodu niedoboru Kir6.2","synonyms":["Autosomalna recesywna hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2"]},"cs":{"name":"Autozomálně recesivní hyperinzulinismus způsobený deficitem Kir6.2","synonyms":["Autozomálně recesivní hyperinzulinemická hypoglykémie způsobená deficitem Kir6.2"]},"uk":{"name":"Аутосомно-рецесивний гіперінсулінізм внаслідок дефіциту Kir6.2","synonyms":["Аутосомно-рецесивна гіперінсулінемічна гіпоглікемія внаслідок дефіциту Kir6.2"],"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 Kir6.2 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":"Kir6.2缺乏所致常染色体隐性高胰岛素血症","synonyms":["Kir6.2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":"Kir6.2 eksikliğine bağlı otozomal resesif hiperinsülinizm","synonyms":["Kir6.2 eksikliğine bağlı otozomal Çekinik 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":"0019334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191078","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"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":"8923010[PMID]_25733449[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-05","source":"34055426[PMID]_30873120[PMID]_20301549[PMID]","terms":[{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031080","label":"Abnormal response to glucagon stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030796","label":"Increased C-peptide level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040299","label":"Decreased circulating free fatty acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031224","label":"Diffuse pancreatic islet hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031223","label":"Focal pancreatic islet hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008194","label":"Multiple pancreatic beta-cell adenomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Excluded (0%)","criteria":null}]}}