{"Name":"Congenital isolated hyperinsulinism","DiseaseID__c":"GARD:0003947","id":3947,"encodedName":"congenital-isolated-hyperinsulinism","IsDeleted":false,"Disease_Name_Full__c":"Congenital isolated hyperinsulinism","Xref_IDs__c":"C122923; CN372705; MEDGEN:1049640; MONDO:0019010; ORPHA:657","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019010","Disease_Description__c":"A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.","GARD_Name__c":"Congenital isolated hyperinsulinism","GARD_Synonym__c":"chi; phhi","Curated_Disease_Description_Source__c":"GARD:0003947","Curated_Disease_Description__c":"Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:657","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019010","ORPHANET_ID__c":"ORPHA:657","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo congénito aislado","Spanish_Description_Source__c":"ORPHA:657","Spanish_Description__c":"Es una enfermedad endocrina poco frecuente caracterizada por una secreción excesiva o desregulada de insulina y episodios recurrentes de hipoglucemia que, sin tratamiento, pueden provocar secuelas neurológicas. Se distinguen dos formas en base a la respuesta al tratamiento de primera línea: hiperinsulinismo sensible al diazóxido e hiperinsulinismo resistente al diazóxido; y tres formas histopatológicas: focal, difusa y atípica. La forma focal sólo se observa en casos de inicio precoz de pacientes resistentes al diazóxido.","Spanish_Disease_Name__c":"hiperinsulinismo congénito aislado","Spanish_GARD_Synonym__c":"chi; hipoglucemia hiperinsulinémica persistente infantil; phhi","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":"Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.","Curated_Disease_Description_Source__c":"GARD:0003947","GARD_Synonym__c":"chi; phhi","Name":"Congenital isolated hyperinsulinism","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Center for Monogenic Diabetes at the University of Chicago","Website__c":"https://monogenicdiabetes.uchicago.edu/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"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:657"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:657"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:657"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122923","Source__c":"MONDO:0019010","Xref__c":"C122923"},{"URL__c":"https://www.orpha.net/en/disease/detail/657","Source__c":"MONDO:0019010","Xref__c":"ORPHA:657"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN372705","Source__c":"CN372705","Xref__c":"CN372705"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1049640","Source__c":"CN372705","Xref__c":"MEDGEN:1049640"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019010","Source__c":"GARD:0003947","Xref__c":"MONDO:0019010"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["chi"," phhi"],"spanishId":13432,"spanishName":"hiperinsulinismo-congenito"}