{"Name":"Exercise-induced hyperinsulinism","DiseaseID__c":"GARD:0009932","id":9932,"encodedName":"exercise-induced-hyperinsulinism","IsDeleted":false,"Disease_Name_Full__c":"Exercise-induced hyperinsulinism","Xref_IDs__c":"715830008; C131839; C1864902; C538376; DOID:0070214; MEDGEN:351246; MONDO:0012396; OMIM:610021; ORPHA:165991","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012396","Disease_Description__c":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide.","GARD_Name__c":"Exercise-induced hyperinsulinism","GARD_Synonym__c":"eihi; exercise-induced hyperinsulinemic hypoglycemia; hhf7; hyperinsulinemic hypoglycemia, familial, type 7; hyperinsulinism due to monocarboxylate transporter 1 deficiency; hyperinsulinism due to slc16a1 deficiency; mct1 hyperinsulinism; monocarboxylate transporter 1 hyperinsulinism","Curated_Disease_Description_Source__c":"GARD:0009932","Curated_Disease_Description__c":"Exercise induced hyperinsulinemic hypoglycemia is characterized by a sudden and exaggerated spike in insulin and drop in blood sugar levels. The condition is triggered by vigorous exercise. Signs and symptoms include fainting (syncope), shakiness, nervousness, sweating, dizziness or light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:165991","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012396","ORPHANET_ID__c":"ORPHA:165991","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo inducido por ejercicio","Spanish_Description_Source__c":"ORPHA:165991","Spanish_Description__c":"Es una forma poco frecuente de hiperinsulinismo difuso congénito sensible al dióxido que se caracteriza por episodios de hipoglucemia inducidos por el ejercicio debido a una sensibilidad inapropiada al lactato y al piruvato en las células beta pancreáticas. Se manifiesta con episodios recurrentes de hipoglucemia asociados a niveles elevados de insulina, en un plazo de 30 minutos posterior a un período corto de ejercicio anaeróbico. El grado de hipoglucemia asociado al ejercicio es variable y sólo responde parcialmente al diazóxido.","Spanish_Disease_Name__c":"hiperinsulinismo inducido por ejercicio","Spanish_GARD_Synonym__c":"hiie; hiperinsulinismo por deficiencia de slc16a1; hiperinsulinismo por deficiencia del transportador de monocarboxilato 1; hipoglucemia hiperinsulinémica inducida por el ejercicio","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":"Exercise induced hyperinsulinemic hypoglycemia is characterized by a sudden and exaggerated spike in insulin and drop in blood sugar levels. The condition is triggered by vigorous exercise. Signs and symptoms include fainting (syncope), shakiness, nervousness, sweating, dizziness or light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.","Curated_Disease_Description_Source__c":"GARD:0009932","GARD_Synonym__c":"eihi; exercise-induced hyperinsulinemic hypoglycemia; hhf7; hyperinsulinemic hypoglycemia, familial, type 7; hyperinsulinism due to monocarboxylate transporter 1 deficiency; hyperinsulinism due to slc16a1 deficiency; mct1 hyperinsulinism; monocarboxylate transporter 1 hyperinsulinism","Name":"Exercise-induced hyperinsulinism","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":"Adolescent","Provided_By__c":"ORPHA:165991"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:165991"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864902"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009932","Source__c":"RareSource"},{"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=351246","Source__c":"C1864902","Xref__c":"MEDGEN:351246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538376","Source__c":"MONDO:0012396","Xref__c":"C538376"},{"URL__c":"https://www.omim.org/entry/610021","Source__c":"C1864902; MONDO:0012396; ORPHA:165991","Xref__c":"OMIM:610021"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131839","Source__c":"C1864902; MONDO:0012396","Xref__c":"C131839"},{"URL__c":"https://www.orpha.net/en/disease/detail/165991","Source__c":"C1864902; MONDO:0012396; ORPHA:165991","Xref__c":"ORPHA:165991"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864902","Source__c":"C1864902","Xref__c":"C1864902"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070214","Source__c":"MONDO:0012396","Xref__c":"DOID:0070214"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715830008","Source__c":"C1864902; MONDO:0012396","Xref__c":"715830008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012396","Source__c":"GARD:0009932","Xref__c":"MONDO:0012396"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC16A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610021","Feature__r":{"HPO_Description__c":"Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004510","HPO_Synonym__c":"Hyperplastic islets of langerhans; Hypertrophic pancreatic islets; Islet of Langerhans hyperplasia; Islets of langerhans hypertrophy; Pancreatic islet-cell hypertrophy","HPO_Name__c":"Pancreatic islet-cell hyperplasia","Feature_System__c":"Endocrine System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610021","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000842","HPO_Synonym__c":"Elevated insulin level","HPO_Name__c":"Hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610021","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002173","HPO_Name__c":"Hypoglycemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610021","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610021","Feature__r":{"HPO_Description__c":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000825","HPO_Synonym__c":"Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia","HPO_Name__c":"Hyperinsulinemic hypoglycemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["eihi"," exercise-induced hyperinsulinemic hypoglycemia"," hhf7"," hyperinsulinemic hypoglycemia, familial, type 7"," hyperinsulinism due to monocarboxylate transporter 1 deficiency"," hyperinsulinism due to slc16a1 deficiency"," mct1 hyperinsulinism"," monocarboxylate transporter 1 hyperinsulinism"]}