{"Name":"Hyperinsulinemic hypoglycemia, familial, 2","DiseaseID__c":"GARD:0009927","id":9927,"encodedName":"hyperinsulinemic-hypoglycemia-familial-2","IsDeleted":false,"Disease_Name_Full__c":"Hyperinsulinemic hypoglycemia, familial, 2","Xref_IDs__c":"C2931833; DOID:0070218; MEDGEN:419173; MONDO:0011153; OMIM:601820","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011153","Disease_Description__c":"Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.","GARD_Name__c":"Hyperinsulinemic hypoglycemia, familial, 2","GARD_Synonym__c":"hyperinsulinemic hypoglycemia (disease) caused by mutation in kcnj11; hyperinsulinemic hypoglycemia due to kir6.2 deficiency; hyperinsulinemic hypoglycemia, familial, type 2; hyperinsulinemic hypoglycemia, persistent; hyperinsulinism, neonatal; kcnj11 hyperinsulinemic hypoglycemia (disease); kcnj11-related hyperinsulinism","Curated_Disease_Description_Source__c":"MEDGEN:C2931833","Curated_Disease_Description__c":"Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (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 sugar 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":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011153","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (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 sugar 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":"MEDGEN:C2931833","GARD_Synonym__c":"hyperinsulinemic hypoglycemia (disease) caused by mutation in kcnj11; hyperinsulinemic hypoglycemia due to kir6.2 deficiency; hyperinsulinemic hypoglycemia, familial, type 2; hyperinsulinemic hypoglycemia, persistent; hyperinsulinism, neonatal; kcnj11 hyperinsulinemic hypoglycemia (disease); kcnj11-related hyperinsulinism","Name":"Hyperinsulinemic hypoglycemia, familial, 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Congenital Hyperinsulinism International","Website__c":"https://congenitalhi.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931833"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931833","Source__c":"C2931833","Xref__c":"C2931833"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070218","Source__c":"MONDO:0011153","Xref__c":"DOID:0070218"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419173","Source__c":"C2931833","Xref__c":"MEDGEN:419173"},{"URL__c":"https://www.omim.org/entry/601820","Source__c":"C2931833; MONDO:0011153","Xref__c":"OMIM:601820"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011153","Source__c":"GARD:0009927","Xref__c":"MONDO:0011153"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1375","Source__c":"Gene Review","Xref__c":"NBK1375"}],"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"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601820","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:601820","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034346","HPO_Name__c":"Nesidioblastosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601820","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:601820","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:601820","Feature__r":{"HPO_Description__c":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001520","HPO_Synonym__c":"Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal","HPO_Name__c":"Large for gestational age","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["hyperinsulinemic hypoglycemia (disease) caused by mutation in kcnj11"," hyperinsulinemic hypoglycemia due to kir6.2 deficiency"," hyperinsulinemic hypoglycemia, familial, type 2"," hyperinsulinemic hypoglycemia, persistent"," hyperinsulinism, neonatal"," kcnj11 hyperinsulinemic hypoglycemia (disease)"," kcnj11-related hyperinsulinism"]}