{"Name":"Hyperinsulinism due to INSR deficiency","DiseaseID__c":"GARD:0017256","id":17256,"encodedName":"hyperinsulinism-due-to-insr-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hyperinsulinism due to INSR deficiency","Xref_IDs__c":"721235003; C1864952; C566494; DOID:0070220; MEDGEN:355335; MONDO:0012381; OMIM:609968; ORPHA:263458","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012381","Disease_Description__c":"A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.","GARD_Name__c":"Hyperinsulinism due to INSR deficiency","GARD_Synonym__c":"hyperinsulinemic hypoglycemia due to insr deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinemic hypoglycemia, familial, type 5; hyperinsulinism due to glutamodehydrogenase deficiency","Curated_Disease_Description_Source__c":"ORPHA:263458","Curated_Disease_Description__c":"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:263458","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012381","ORPHANET_ID__c":"ORPHA:263458","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo por deficiencia de insr","Spanish_Description_Source__c":"ORPHA:263458","Spanish_Description__c":"La hipoglucemia hiperinsulinémica por déficit de INSR es una forma autosómica dominante muy poco frecuente de hiperinsulinismo familiar que se caracteriza clínicamente, en la única familia descrita, por hipoglucemia postprandial, hiperinsulinemia en el ayuno y niveles séricos elevados de péptido C e insulina, y una edad de aparición variable.","Spanish_Disease_Name__c":"hiperinsulinismo por deficiencia de insr","Spanish_GARD_Synonym__c":"hipoglucemia hiperinsulinémica por deficiencia de insr; hipoglucemia hiperinsulinémica por deficiencia de receptor de insulina","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":"Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.","Curated_Disease_Description_Source__c":"ORPHA:263458","GARD_Synonym__c":"hyperinsulinemic hypoglycemia due to insr deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinemic hypoglycemia, familial, type 5; hyperinsulinism due to glutamodehydrogenase deficiency","Name":"Hyperinsulinism due to INSR deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:263458"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:263458"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864952","Source__c":"C1864952","Xref__c":"C1864952"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355335","Source__c":"C1864952","Xref__c":"MEDGEN:355335"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566494","Source__c":"MONDO:0012381","Xref__c":"C566494"},{"URL__c":"https://www.omim.org/entry/609968","Source__c":"C1864952; MONDO:0012381; ORPHA:263458","Xref__c":"OMIM:609968"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070220","Source__c":"MONDO:0012381","Xref__c":"DOID:0070220"},{"URL__c":"https://www.orpha.net/en/disease/detail/263458","Source__c":"C1864952; MONDO:0012381","Xref__c":"ORPHA:263458"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721235003","Source__c":"MONDO:0012381","Xref__c":"721235003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012381","Source__c":"GARD:0017256","Xref__c":"MONDO:0012381"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1375","Source__c":"Gene Review","Xref__c":"NBK1375"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"INSR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/insr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Always (100%)","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":"ORPHA:263458","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000855","HPO_Synonym__c":"Body fails to respond to insulin","HPO_Name__c":"Insulin resistance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001988","HPO_Synonym__c":"hypoglycaemia, recurrent; hypoglycemia, recurrent; Hypoglycemic episodes; Recurrent hypoglycaemia; Recurrent hypoglycemic episodes; Recurrent low blood sugar levels","HPO_Name__c":"Recurrent hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030794","HPO_Synonym__c":"Abnormal C peptide level; Abnormal C-peptide level","HPO_Name__c":"Abnormal circulating C-peptide concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:263458","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008283","HPO_Synonym__c":"High blood insulin levels while fasting","HPO_Name__c":"Fasting hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:263458","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["hyperinsulinemic hypoglycemia due to insr deficiency"," hyperinsulinemic hypoglycemia due to insulin receptor deficiency"," hyperinsulinemic hypoglycemia, familial, type 5"," hyperinsulinism due to glutamodehydrogenase deficiency"]}