{"orpha":79299,"name":"Congenital glucokinase-related hyperinsulinism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Glucokinase-related hyperinsulinemic hypoglycemia"],"definition":"A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79299/","orphanet_url":"https://www.orpha.net/en/disease/detail/79299","names":{"fr":{"name":"Hyperinsulinisme congénital lié à la glucokinase","synonyms":["Hypoglycémie hyperinsulinémique liée à la glucokinase"],"definition":"Forme rare d'hyperinsulinisme diffus due à une hyperactivité de la glucokinase, caractérisée par une sécrétion excessive/incontrôlée d'insuline (inadéquate par rapport au niveau de glycémie) et des épisodes récurrents d'hypoglycémie induits par le jeûne et les repas riches en glucose. Le spectre clinique peut aller des cas légers et intermédiaires qui répondent bien aux modifications du régime alimentaire et à la prise en charge médicale par le diazoxide, aux cas graves, non sensibles au diazoxide. Le développement potentiel d'un diabète de type 2 avec l'âge est une autre caractéristique notable."},"de":{"name":"Hyperinsulinismus, kongenitaler, durch Glukokinase-Mangel","synonyms":["Hypoglykämie, hyperinsulinämische, Glukokinase-assoziierte"],"definition":"Eine Form des diffusen Hyperinsulinismus, die auf einer Glukokinase-Hyperaktivität beruht und durch eine übermäßige/unkontrollierte Insulinausschüttung (die nicht an den Blutzuckerspiegel angepasst ist) und wiederkehrende Hypoglykämie-Episoden gekennzeichnet ist, die durch Fasten und glukosereiche Mahlzeiten ausgelöst werden. Das klinische Spektrum reicht von leichten und mittelschweren Fällen, die gut auf Ernährungsumstellungen und eine medizinische Behandlung mit Diazoxid ansprechen, bis hin zu schweren Fällen, die auf Diazoxid nicht ansprechen. Ein weiteres bemerkenswertes Merkmal ist die mögliche Entwicklung eines Typ-2-Diabetes mit zunehmendem Alter."},"es":{"name":"Hiperinsulinismo congénito por deficiencia de glucoquinasa","synonyms":["Hipoglucemia hiperinsulinémica por deficiencia de glucoquinasa"],"definition":"Es una forma de hiperinsulinismo difuso debido a hiperactividad de la glucocinasa y caracterizada por una secreción excesiva/incontrolada de insulina (inadecuada para el nivel de glucemia) y episodios recurrentes de hipoglucemia inducidos por el ayuno y por las comidas ricas en glucosa. El espectro clínico puede variar desde casos leves y moderados que responden bien a las modificaciones dietéticas y al tratamiento médico con diazóxido hasta casos graves refractarios al diazóxido. El desarrollo potencial de diabetes tipo 2 con la edad es otra característica a destacar."},"it":{"name":"Iperinsulinismo congenito correlato alla glucochinasi","synonyms":["Ipoglicemia iperinsulinemica correlata alla glucochinasi"],"definition":"L'iperinsulinismo da deficit di glucochinasi (HIGCK) è una forma di iperinsulinismo diffuso sensibile al diazossido (si veda questo termine), causata da una riduzione della soglia per il rilascio dell'insulina. La malattia è caratterizzata da una secrezione eccessiva/incontrollata di insulina (non adeguata al livello della glicemia) e da episodi ricorrenti di ipoglicemia grave indotta dal digiuno e da pasti ricchi in proteine, che richiedono un trattamento tempestivo e intensivo per prevenire le sequele neurologiche."},"nl":{"name":"Congenitaal hyperinsulinisme gerelateerd aan glucokinase","synonyms":["Hyperinsulinemische hypoglycemie gerelateerd aan glucokinase"],"definition":"Een vorm van diffuus hyperinsulinisme door hyperactiviteit van glucokinase, gekenmerkt door excessieve/ongecontroleerde insulinesecretie (niet gepast voor de mate van glycemie) en recidiverende episodes van hypoglycemie geïnduceerd door vasten en glucoserijke maaltijden. Het klinische spectrum kan gaan van milde en intermediaire gevallen die goed reageren op aanpassing van dieet en medische behandeling met diazoxide, tot ernstige gevallen die niet reageren op diazoxide. Mogelijke ontwikkeling van type 2 diabetes met het ouder worden, is een ander opmerkelijk kenmerk."},"pt":{"name":"Hiperinsulinismo por deficiência de glucocinase","definition":"Forma de hiperinsulinismo difuso devido à hiperfuncionalidade da glicoquinase e caracterizado por secreção excessiva/sem controlo de insulina (inapropriada para o nível de glicemia) e episódios recorrentes de hipoglicemia induzidos por jejum e refeições ricas em glicose. O espectro clínico pode variar de casos ligeiros e intermediários que respondem bem às modificações dietéticas e ao tratamento médico com diazóxido, até casos graves que não respondem ao diazóxido. O potencial desenvolvimento de diabetes tipo 2 com a idade é outra característica assinalável."},"pl":{"name":"Wrodzony hiperinsulinizm związany z glukokinazą","synonyms":["Hipoglikemia hiperinsulinemiczna z powodu niedoboru glukokinazy"]},"cs":{"name":"Hyperinzulinismus způsobený deficitem glukokinázy","synonyms":["Hyperinzulinemická hypoglykémie způsobená deficitem glukokinázy"]},"uk":{"name":"Вроджений глюкокіназо-залежний гіперінсулінізм","synonyms":["Глюкокіназозалежна гіперінсулінемічна гіпоглікемія"],"definition":"A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature."},"zh":{"name":"葡糖激酶缺乏所致高胰岛素血症","synonyms":["葡萄糖激酶缺乏所致高胰岛素血症性低血糖"]},"tr":{"name":"Glukokinaz eksikliğine bağlı hiperinsülinizm","synonyms":["Glukokinaz eksikliğine bağlı hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"OMIM","code":"602485","qualifier":"E","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":"0011236","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11236","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274019","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2818","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]},{"orpha":308459,"name":"Disorder of glycolysis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"GCK","name":"glucokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9435328[PMID]_25733449[PMID]","hgnc":"4195","ensembl":"ENSG00000106633","omim":"138079","loci":["7p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-12","source":"9435328[PMID]_17003566[PMID]_21967988[PMID]_15133749[PMID]","terms":[{"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: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:0001988","label":"Recurrent hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","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:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012638","label":"Abnormality of nervous system physiology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Very rare (<4-1%)","criteria":null}]}}