{"orpha":263455,"name":"Congenital hyperinsulinism due to HNF4A deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia due to HNF4A deficiency"],"definition":"A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263455/","orphanet_url":"https://www.orpha.net/en/disease/detail/263455","names":{"fr":{"name":"Hyperinsulinisme congénital par déficit en HNF4A","synonyms":["Hypoglycémie hyperinsulinémique par déficit en HNF4A"],"definition":"Forme rare d'hyperinsulinisme congénital diffus sensible au diazoxide due à un déficit en HNF4A et caractérisée par une macrosomie, une hypoglycémie hyperinsulinémique transitoire ou persistante, une sensibilité au diazoxide et une susceptibilité à développer un diabète de la maturité des jeunes (MODY)."},"de":{"name":"Hyperinsulinismus durch HNF4A-Mangel","synonyms":["Hypoglykämie, hyperinsulinämische, durch HNF4A-Mangel"],"definition":"Eine Form des Diazoxid-sensitiven diffusen kongenitalen Hyperinsulinismus, der auf einen HNF4A-Mangel zurückzuführen ist und durch Makrosomie, vorübergehende oder anhaltende hyperinsulinämische Hypoglykämie (HH), Ansprechen auf Diazoxid und eine Neigung zur Entwicklung eines Altersdiabetes vom Subtyp 1 (MODY) gekennzeichnet ist."},"es":{"name":"Hiperinsulinismo congénito por deficiencia de HNF4A","synonyms":["Hipoglucemia hiperinsulinémica por deficiencia de HNF4A"],"definition":"Es una forma de hiperinsulinismo congénito difuso sensible al diazóxido por deficiencia de HNF4A. Está caracterizado por macrosomía, hipoglucemia hiperinsulinémica (HH) transitoria o persistente, respuesta al diazóxido y una propensión a desarrollar diabetes del adulto de inicio juvenil subtipo 1 (MODY)."},"it":{"name":"Iperinsulinismo congenito da deficit di HNF4A","synonyms":["Ipoglicemia iperinsulinemica da deficit di HNF4A"],"definition":"L'iperinsulinismo da deficit di HNF4A è una forma di iperinsulinismo diffuso sensibile al diazossido (DHI), caratterizzata da macrosomia, ipoglicemia iperinsulinemica (HH) transitoria o persistente, risposta al diazossido e predisposizione al diabete giovanile ad esordio nell'età adulta sottotipo 1 (MODY-1; si veda questo termine)."},"nl":{"name":"Congenitaal hyperinsulinisme door HNF4A-deficiëntie","synonyms":["Hyperinsulinemische hypoglycemie door HNF4A-deficiëntie"],"definition":"Een vorm van diazoxidesensitief diffuus hyperinsulinisme door deficiëntie van HNF4A, gekenmerkt door macrosomie, tijdelijke of aanhoudende hyperinsulinemische hypoglycemie (HH), gevoeligheid voor diazoxide, en aanleg om ouderdomsdiabetes bij jongeren subtype 1 (MODY1) te ontwikkelen."},"pt":{"name":"Hiperinsulinismo congénito por deficiência de HNF4A","synonyms":["Hipoglicémia hiperinsulinémica por deficiência de HNF4A"],"definition":"Forma de hiperinsulinismo congénito difuso sensível ao diazóxido devido à deficiência de HNF4A e caracterizada por macrossomia, hipoglicemia hiperinsulinémica (HH) transitória ou persistente, sensível ao diazóxido e predisposição a desenvolver diabetes de início na idade adulta do subtipo 1 jovem (MODY)."},"pl":{"name":"Hiperinsulinizm z powodu niedoboru HNF4A","synonyms":["Hipoglikemia hiperinsulinemiczna z powodu niedoboru HNF4A","Wrodzony hiperinsulinizm z powodu niedoboru HNF4A"],"definition":"Postać rozlanego, wrażliwego na diazoksyd wrodzonego hiperinsulinizmu spowodowanego niedoborem HNF4A, charakteryzująca się makrosomią, przejściową lub przetrwałą hipoglikemią hiperinsulinemiczną, odpowiedzią na diazoksyd i skłonnością do rozwoju cukrzycy typu MODY 1 (ang. maturity onset diabetes of the young)."},"cs":{"name":"Hyperinzulinémie způsobená deficitem HNF4A","synonyms":["Hyperinzulinemická hypoglykémie způsobená deficitem HNF4A"]},"uk":{"name":"Вроджений гіперінсулінізм, зумовлений дефіцитом HNF4A","synonyms":["Гіперінсулінемічна гіпоглікемія внаслідок дефіциту HNF4A"],"definition":"A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY)."},"zh":{"name":"HNF4A基因缺陷所致高胰岛素血症","synonyms":["HNF4A基因缺陷所致的高胰岛素低血糖"],"definition":"HNF4A基因缺陷所致的高胰岛素血症是一种二氮嗪敏感型弥漫性高胰岛素血症(DHI)，其特征是巨大儿、一过性或持续性的高胰岛素低血糖(HH)、二氮嗪治疗有效以及成年起病的1型糖尿病的致病倾向(MODY-1；见该词条)。"},"tr":{"name":"HNF4A eksikliğine bağlı hiperinsülinizm","synonyms":["HNF4A eksikliğine bağlı hiperinsülinemik hipoglisemi"]}},"xrefs":[{"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":"0016988","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16988","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274078","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":"HNF4A","name":"hepatocyte nuclear factor 4 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20931292[PMID]_25733449[PMID]","hgnc":"5024","ensembl":"ENSG00000101076","omim":"600281","loci":["20q13.12"]}],"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":"2016-03-14","source":"21967988[PMID]_22802087[PMID]","terms":[{"hpo":"HP:0004359","label":"Abnormal circulating fatty-acid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","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:0004324","label":"Increased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004510","label":"Pancreatic islet-cell hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006568","label":"Increased hepatic glycogen content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005979","label":"Metabolic ketoacidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null}]}}