{"orpha":324575,"name":"Hyperinsulinism due to HNF1A deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia due to HNF1A deficiency"],"definition":"Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324575/","orphanet_url":"https://www.orpha.net/en/disease/detail/324575","names":{"fr":{"name":"Hyperinsulinisme par déficit en HNF1A","synonyms":["Hypoglycémie hyperinsulinémique par déficit en HNF1A"],"definition":"Forme d'hyperinsulinisme diffus sensible au diazoxide (DHI), caractérisée par une hypoglycémie hyperinsulinémique (HH) transitoire ou persistante dans la petite enfance qui répond au diazoxide, évoluant vers un diabète de sous-type&nbsp;1 (MODY-1) plus tard dans la vie."},"de":{"name":"Hyperinsulinismus durch HNF1A-Mangel","synonyms":["Hypoglykämie, hyperinsulinämische, durch HNF1A-Mangel"]},"es":{"name":"Hiperinsulinismo por deficiencia de HNF1A","synonyms":["Hipoglucemia hiperinsulinémica por deficiencia de HNF1A"],"definition":"Es un tipo de hiperinsulinismo difuso (DHI) sensible al diazóxido caracterizado por hipoglucemia hiperinsulinémica (HH) transitoria o persistente en la lactancia que responde al diazóxido, y que puede evolucionar posteriormente al subtipo 1 de diabetes del adulto de inicio juvenil (MODY1)."},"it":{"name":"Iperinsulinismo da deficit di HNF1A","synonyms":["Ipoglicemia iperinsulinemica da deficit di HNF1A"],"definition":"L'iperinsulinismo da deficit di HNF1A è una forma di iperinsulinismo diffuso sensibile al diazossido (DHI); è caratterizzato da ipoglicemia iperinsulinemica (HH) transitoria o persistente che esordisce nell'infanzia, risponde al diazossido ed evolve nel diabete giovanile ad esordio nell'età adulta, sottotipo 1 (MODY-1; si veda questo termine)."},"nl":{"name":"Hyperinsulinisme door HNF1A-deficiëntie","synonyms":["Hyperinsulinemische hypoglycemie door HNF1A-deficiëntie"],"definition":"Hyperinsulinisme door HNF1A-deficiëntie is een vorm van diazoxidesensitief diffuus hyperinsulinisme (DHI), en wordt gekarakteriseerd door transiënte of persisterende hyperinsulinemische hypoglycemie (HH) in de zuigelingentijd die gevoelig is voor diazoxide en die op latere leeftijd evolueert tot ouderdomsdiabetes bij jongeren subtype 1 (MODY-1; zie deze term)."},"pt":{"name":"Hiperinsulinismo por deficiencia de HNF1A"},"pl":{"name":"Hiperinsulinizm z powodu niedoboru HNF1A","synonyms":["Hipoglikemia hiperinsulinemiczna z powodu niedoboru HNF1A deficiency"]},"cs":{"name":"Hyperinzulinismus způsobený HNF1A deficitem","synonyms":["Hyperinzulinemická hypoglykémie způsobená HNF1A deficitem"]},"uk":{"name":"Гіперінсулінізм, зумовлений дефіцитом HNF1A","synonyms":["Гіперінсулінемічна гіпоглікемія внаслідок дефіциту HNF1A"],"definition":"Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life."},"zh":{"name":"HNF1A基因缺陷所致高胰岛素血症","synonyms":["HNF1A基因缺陷所致高胰岛素血症"],"definition":"HNF1A缺乏所致高胰岛素血症是二氮嗪敏感的弥漫性高胰岛素血症(DHI)的一种类型，其特征是在婴儿期对二氮嗪有反应的短暂或持续的高胰岛素低血糖症(HH)，随后发展为青少年发病的成人型糖尿病1型(MODY-1；见该术语)。"},"tr":{"name":"HNF1A eksikliğine bağlı hiperinsülinizm","synonyms":["HNF1A 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":"0017935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303475","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":"HNF1A","name":"HNF1 homeobox A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22802087[PMID]_25733449[PMID]","hgnc":"11621","ensembl":"ENSG00000135100","omim":"142410","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22802087[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-12","source":"21967988[PMID]_31414570[PMID]_29493090[PMID]_29280746[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:0000825","label":"Hyperinsulinemic 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: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:0000713","label":"Agitation","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:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004904","label":"Maturity-onset diabetes of the young","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:0012051","label":"Reactive hypoglycemia","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:0001325","label":"Hypoglycemic coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012734","label":"Ketotic hypoglycemia","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:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}