{"Name":"Hyperinsulinism due to glucokinase deficiency","DiseaseID__c":"GARD:0002818","id":2818,"encodedName":"hyperinsulinism-due-to-glucokinase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hyperinsulinism due to glucokinase deficiency","Xref_IDs__c":"717182006; C1865290; C538374; DOID:0070216; MEDGEN:355435; MONDO:0011236; OMIM:602485; ORPHA:79299","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011236","Disease_Description__c":"A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.","GARD_Name__c":"Hyperinsulinism due to glucokinase deficiency","GARD_Synonym__c":"gck-related hyperinsulinism; hhf3; hyperinsulinemic hypoglycemia due to glucokinase deficiency; hyperinsulinemic hypoglycemia, familial, type 3","Curated_Disease_Description_Source__c":"MONDO:0011236","Curated_Disease_Description__c":"A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79299","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011236","ORPHANET_ID__c":"ORPHA:79299","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperinsulinismo congénito por deficiencia de glucoquinasa","Spanish_Description_Source__c":"ORPHA:79299","Spanish_Description__c":"Es una forma de hiperinsulinismo difuso debido a hiperactividad de la glucocinasa y caracterizada por una secreción excesiva/incontrolada de insulina (inadecuada para el nivel de glucemia) y episodios recurrentes de hipoglucemia inducidos por el ayuno y por las comidas ricas en glucosa. El espectro clínico puede variar desde casos leves y moderados que responden bien a las modificaciones dietéticas y al tratamiento médico con diazóxido hasta casos graves refractarios al diazóxido. El desarrollo potencial de diabetes tipo 2 con la edad es otra característica a destacar.","Spanish_Disease_Name__c":"hiperinsulinismo congénito por deficiencia de glucoquinasa","Spanish_GARD_Synonym__c":"hipoglucemia hiperinsulinémica por deficiencia de glucoquinasa","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 form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.","Curated_Disease_Description_Source__c":"MONDO:0011236","GARD_Synonym__c":"gck-related hyperinsulinism; hhf3; hyperinsulinemic hypoglycemia due to glucokinase deficiency; hyperinsulinemic hypoglycemia, familial, type 3","Name":"Hyperinsulinism due to glucokinase 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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79299"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79299"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002818","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1375","Source__c":"Gene Review","Xref__c":"NBK1375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717182006","Source__c":"MONDO:0011236","Xref__c":"717182006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355435","Source__c":"C1865290","Xref__c":"MEDGEN:355435"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538374","Source__c":"MONDO:0011236","Xref__c":"C538374"},{"URL__c":"https://www.omim.org/entry/602485","Source__c":"C1865290; MONDO:0011236; ORPHA:79299","Xref__c":"OMIM:602485"},{"URL__c":"https://www.orpha.net/en/disease/detail/79299","Source__c":"C1865290; MONDO:0011236","Xref__c":"ORPHA:79299"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070216","Source__c":"MONDO:0011236","Xref__c":"DOID:0070216"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865290","Source__c":"C1865290","Xref__c":"C1865290"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011236","Source__c":"GARD:0002818","Xref__c":"MONDO:0011236"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GCK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gck","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79299","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001985","HPO_Synonym__c":"Hypoglycemia, hypoketotic","HPO_Name__c":"Hypoketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79299","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:79299","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79299","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:79299","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":"ORPHA:79299","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79299","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:79299","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"}},{"Provided_By__c":"ORPHA:79299","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:79299","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79299","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012638","HPO_Synonym__c":"Abnormality of nervous system physiology","HPO_Name__c":"Abnormal nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79299","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002270","HPO_Name__c":"Abnormality of the autonomic nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79299","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["gck-related hyperinsulinism"," hhf3"," hyperinsulinemic hypoglycemia due to glucokinase deficiency"," hyperinsulinemic hypoglycemia, familial, type 3"]}