{"orpha":263458,"name":"Hyperinsulinism due to INSR deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia due to INSR deficiency","Hyperinsulinemic hypoglycemia due to insulin receptor deficiency"],"definition":"A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263458/","orphanet_url":"https://www.orpha.net/en/disease/detail/263458","names":{"fr":{"name":"Hyperinsulinisme par déficit en INSR","synonyms":["Hypoglycémie hyperinsulinémique par déficit en INSR","Hypoglycémie hyperinsulinémique par déficit en récepteur à l'insuline"],"definition":"Forme autosomique dominante rare d'hyperinsulinisme familial caractérisée sur le plan clinique par une hypoglycémie postprandiale, une hyperinsulinémie à jeun, un taux élevé d'insuline sérique/peptide&nbsp;C et un âge d'apparition variable."},"de":{"name":"Hyperinsulinismus durch INSR-Mangel","synonyms":["Hypoglykämie, hyperinsulinämische, durch INSR-Mangel","Hypoglykämie, hyperinsulinämische, durch Insulin-Rezeptor-Mangel"],"definition":"Die Hyperinsulinämische Hypoglykämie durch INSR-Mangel ist eine sehr seltene, autosomal-dominant vererbte Form von familiärem Hyperinsulinismus. In der einzigen bisher beschriebenen Familie ist sie klinisch gekennzeichnet durch postprandiale Hypoglykämie, Nüchtern-Hyperinsulinämie und im Serum erhöhtes Insulin/C-Peptid-Verhältnis. Das Erkrankungsalter ist variabel."},"es":{"name":"Hiperinsulinismo por deficiencia de INSR","synonyms":["Hipoglucemia hiperinsulinémica por deficiencia de INSR","Hipoglucemia hiperinsulinémica por deficiencia de receptor de insulina"],"definition":"La hipoglucemia hiperinsulinémica por déficit de INSR es una forma autosómica dominante muy poco frecuente de hiperinsulinismo familiar que se caracteriza clínicamente, en la única familia descrita, por hipoglucemia postprandial, hiperinsulinemia en el ayuno y niveles séricos elevados de péptido C e insulina, y una edad de aparición variable."},"it":{"name":"Iperinsulinismo da deficit di INSR","synonyms":["Ipoglicemia iperinsulinemica da deficit del recettore dell'insulina","Ipoglicemia iperinsulinemica da deficit di INSR"],"definition":"L'ipoglicemia iperinsulinemica da deficit di INSR è una forma molto rara, autosomica dominante, di iperinsulinismo familiare, caratterizzata, nell'unica famiglia descritta, da ipoglicemia postprandiale, iperinsulinemia a digiuno e livelli sierici elevati di insulina e peptide C, e un'età di esordio variabile."},"nl":{"name":"Hyperinsulinisme door INSR-deficiëntie","synonyms":["Hyperinsulinemische hypoglycemie door INSR-deficiëntie","Hyperinsulinemische hypoglycemie door deficiëntie van insulinereceptor"],"definition":"Een zeer zeldzame autosomaal dominante vorm van familiaal hyperinsulinisme, klinisch gekenmerkt, bij de enige familie die werd gerapporteerd, door postprandiale hypoglycemie, nuchtere hyperinsulinemie, en verhoogde insuline/C-peptide-verhouding in serum, met variabele aanvangsleeftijd."},"pt":{"name":"Hiperinsulinismo hipoglicémico devido a défice de INSR"},"pl":{"name":"Hiperinsulinizm z powodu niedoboru INSR","synonyms":["Hipoglikemia hiperinsulinemiczna z powodu niedoboru INSR","Hipoglikemia hiperinsulinemiczna z powodu niedoboru receptora insulinowego"]},"cs":{"name":"Hyperinzulinemie způsobená deficitem INSR","synonyms":["Hyperinzulinemická hypoglykémie způsobená deficitem INSR","Hyperinzulinemická hypoglykémie způsobená deficitem inzulinového receptoru"]},"uk":{"name":"Гіперінсулінізм, зумовлений дефіцитом INSR","synonyms":["Гіперінсулінемічна гіпоглікемія внаслідок дефіциту INSR","Гіперінсулінемічна гіпоглікемія внаслідок дефіциту інсулінових рецепторів"],"definition":"A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset."},"zh":{"name":"INSR基因缺陷所致高胰岛素血症","synonyms":["胰岛素受体缺陷所致的高胰岛素低血糖"],"definition":"胰岛素受体缺乏所致的高胰岛素血症是一种非常罕见的常染色体显性遗传性家族性高胰岛素血症，其临床特征是在单一报道的家系中表现为餐后低血糖、空腹高胰岛素血症、血清胰岛素与C肽比值升高以及发病年龄可变。"},"tr":{"name":"INSR eksikliğine bağlı hiperinsülinizm","synonyms":["INSR eksikliğine bağlı hiperinsülinemik hipoglisemi","İnsülin reseptör eksikliğine bağlı hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"OMIM","code":"609968","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012381","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":276525,"name":"Familial hyperinsulinism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"INSR","name":"insulin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15161766[PMID]","hgnc":"6091","ensembl":"ENSG00000171105","omim":"147670","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"15161766[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15161766[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-24","source":"21967988[PMID]_15161766[PMID]","terms":[{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030794","label":"Abnormal C-peptide level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null}]}}