{"Name":"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency","DiseaseID__c":"GARD:0017285","id":17285,"encodedName":"diazoxide-resistant-focal-hyperinsulinism-due-to-sur1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency","Xref_IDs__c":"783740007; C5191059; MEDGEN:1683284; MONDO:0017187; ORPHA:276598","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:276598","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 beta-cells due to a mutation in the <i>ABCC8</i> gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, 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 SUR1 deficiency","GARD_Synonym__c":"diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency; hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form","Curated_Disease_Description_Source__c":"ORPHA:276598","Curated_Disease_Description__c":"A rare, congenital, isolated hyperinsulinism disorder characterised by diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic 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:276598","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017187","ORPHANET_ID__c":"ORPHA:276598","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo focal resistente al diazóxido por deficiencia de sur1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperinsulinismo focal resistente al diazóxido por deficiencia de sur1","Spanish_GARD_Synonym__c":"hipoglucemia hiperinsulinémica por deficiencia de sur1 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 characterised by diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome.","Curated_Disease_Description_Source__c":"ORPHA:276598","GARD_Synonym__c":"diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency; hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form","Name":"Diazoxide-resistant focal hyperinsulinism due to SUR1 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:276598"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:276598"}],"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=1683284","Source__c":"C5191059","Xref__c":"MEDGEN:1683284"},{"URL__c":"https://www.orpha.net/en/disease/detail/276598","Source__c":"C5191059; MONDO:0017187; ORPHA:276598","Xref__c":"ORPHA:276598"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191059","Source__c":"C5191059","Xref__c":"C5191059"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017187","Source__c":"GARD:0017285","Xref__c":"MONDO:0017187"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783740007","Source__c":"C5191059","Xref__c":"783740007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCC8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcc8","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":["diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency"," hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form"]}