{"Name":"Autosomal recessive hyperinsulinism due to SUR1 deficiency","DiseaseID__c":"GARD:0016726","id":16726,"encodedName":"autosomal-recessive-hyperinsulinism-due-to-sur1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive hyperinsulinism due to SUR1 deficiency","Xref_IDs__c":"783767001; C5191077; MEDGEN:1683144; MONDO:0019333; ORPHA:79643","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:79643","Disease_Description__c":"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.","GARD_Name__c":"Autosomal recessive hyperinsulinism due to SUR1 deficiency","GARD_Synonym__c":"autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency; autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency","Curated_Disease_Description_Source__c":"ORPHA:79643","Curated_Disease_Description__c":"A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79643","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019333","ORPHANET_ID__c":"ORPHA:79643","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo autosómico recesivo por deficiencia de sur1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperinsulinismo autosómico recesivo por deficiencia de sur1","Spanish_GARD_Synonym__c":"hipoglucemia hiperinsulinémica autosómica recesiva por deficiencia de sur1","Category_Linearization__c":"ORPHA:68367","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 neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.","Curated_Disease_Description_Source__c":"ORPHA:79643","GARD_Synonym__c":"autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency; autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency","Name":"Autosomal recessive 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"}],"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.orpha.net/en/disease/detail/79643","Source__c":"C5191077; MONDO:0019333; ORPHA:79643","Xref__c":"ORPHA:79643"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1683144","Source__c":"C5191077","Xref__c":"MEDGEN:1683144"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191077","Source__c":"C5191077","Xref__c":"C5191077"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019333","Source__c":"GARD:0016726","Xref__c":"MONDO:0019333"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783767001","Source__c":"C5191077","Xref__c":"783767001"}],"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"]},"synonyms":["autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency"," autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency"]}