{"Name":"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","DiseaseID__c":"GARD:0017286","id":17286,"encodedName":"diazoxide-resistant-focal-hyperinsulinism-due-to-kir62-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","Xref_IDs__c":"783741006; C5191060; MEDGEN:1673560; MONDO:0017188; ORPHA:276603","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:276603","Disease_Description__c":"A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.","GARD_Name__c":"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","GARD_Synonym__c":"hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form","Curated_Disease_Description_Source__c":"ORPHA:276603","Curated_Disease_Description__c":"A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:276603","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017188","ORPHANET_ID__c":"ORPHA:276603","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo focal resistente al diazóxido por deficiencia de kir6.2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperinsulinismo focal resistente al diazóxido por deficiencia de kir6.2","Spanish_GARD_Synonym__c":"hipoglucemia hiperinsulinémica por deficiencia de kir6.2 resistente al diazóxido","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.","Curated_Disease_Description_Source__c":"ORPHA:276603","GARD_Synonym__c":"hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form","Name":"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Congenital Hyperinsulinism International","Website__c":"https://congenitalhi.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:276603"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:276603"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1375","Source__c":"Gene Review","Xref__c":"NBK1375"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1673560","Source__c":"C5191060","Xref__c":"MEDGEN:1673560"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191060","Source__c":"C5191060","Xref__c":"C5191060"},{"URL__c":"https://www.orpha.net/en/disease/detail/276603","Source__c":"C5191060; MONDO:0017188; ORPHA:276603","Xref__c":"ORPHA:276603"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783741006","Source__c":"C5191060","Xref__c":"783741006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017188","Source__c":"GARD:0017286","Xref__c":"MONDO:0017188"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNJ11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form"]}