{"Name":"Hyperinsulinism-hyperammonemia syndrome","DiseaseID__c":"GARD:0009931","id":9931,"encodedName":"hyperinsulinism-hyperammonemia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hyperinsulinism-hyperammonemia syndrome","Xref_IDs__c":"C131832; C1847555; C538375; DOID:0070217; MEDGEN:376153; MONDO:0011717; OMIM:606762; ORPHA:35878","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:0011717","Disease_Description__c":"A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.","GARD_Name__c":"Hyperinsulinism-hyperammonemia syndrome","GARD_Synonym__c":"gdh hyperinsulinism; glud1 hyperinsulinism; glud1 related hyperinsulinism and hyperammonemia syndrome; glud1-related hyperinsulinism; glutamate dehydrogenase 1 hyperinsulinism; glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome; hhf6; hi/ha syndrome; hyperinsulinemic hypoglycemia, familial, type 6; hyperinsulinism and hyperammonemia syndrome; hyperinsulinism/hyperammonemia syndrome","Curated_Disease_Description_Source__c":"MONDO:0011717","Curated_Disease_Description__c":"A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.","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:35878","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011717","ORPHANET_ID__c":"ORPHA:35878","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiperinsulinismo-hiperamonemia","Spanish_Description_Source__c":"ORPHA:35878","Spanish_Description__c":"Es una forma difusa de hiperinsulinismo congénito poco frecuente caracterizada por una secreción de insulina excesiva/incontrolada (inadecuada para el nivel de glucemia), hiperamonemia crónica y episodios recurrentes de hipoglucemia inducidos por ayunos y comidas ricas en proteínas. También puede asociar epilepsia y deficiencia cognitiva no relacionados con la hipoglucemia, pero posiblemente relacionados con la hiperamonemia crónica. Este trastorno suele responder al tratamiento con diazóxido.","Spanish_Disease_Name__c":"síndrome de hiperinsulinismo-hiperamonemia","Spanish_GARD_Synonym__c":"síndrome hi/ha","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 rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment.","Curated_Disease_Description_Source__c":"MONDO:0011717","GARD_Synonym__c":"gdh hyperinsulinism; glud1 hyperinsulinism; glud1 related hyperinsulinism and hyperammonemia syndrome; glud1-related hyperinsulinism; glutamate dehydrogenase 1 hyperinsulinism; glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome; hhf6; hi/ha syndrome; hyperinsulinemic hypoglycemia, familial, type 6; hyperinsulinism and hyperammonemia syndrome; hyperinsulinism/hyperammonemia syndrome","Name":"Hyperinsulinism-hyperammonemia syndrome","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":"Neonatal","Provided_By__c":"ORPHA:35878"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:35878"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847555"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009931","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1375","Source__c":"Gene Review","Xref__c":"NBK1375"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070217","Source__c":"MONDO:0011717","Xref__c":"DOID:0070217"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847555","Source__c":"C1847555","Xref__c":"C1847555"},{"URL__c":"https://www.orpha.net/en/disease/detail/35878","Source__c":"C1847555; MONDO:0011717; ORPHA:35878","Xref__c":"ORPHA:35878"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376153","Source__c":"C1847555","Xref__c":"MEDGEN:376153"},{"URL__c":"https://www.omim.org/entry/606762","Source__c":"C1847555; MONDO:0011717; ORPHA:35878","Xref__c":"OMIM:606762"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131832","Source__c":"C1847555; MONDO:0011717","Xref__c":"C131832"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538375","Source__c":"MONDO:0011717","Xref__c":"C538375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718106009","Source__c":"C1847555","Xref__c":"718106009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011717","Source__c":"GARD:0009931","Xref__c":"MONDO:0011717"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLUD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoglycermia following a meal (or more generally, after intake of glucose).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012051","HPO_Synonym__c":"Low blood sugar after a meal; Postprandial hypoglycemia","HPO_Name__c":"Reactive hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","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:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","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:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011198","HPO_Name__c":"EEG with generalized epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008162","HPO_Synonym__c":"Hyperammonemia, asymptomatic","HPO_Name__c":"Asymptomatic hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A greater than normal concentration of 2-oxoglutaric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012402","HPO_Synonym__c":"Elevated urinary 2-oxoglutarate; Increased urine alpha-ketoglutarate concentration","HPO_Name__c":"Increased urine alpha-ketoglutarate concentration","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":["gdh hyperinsulinism"," glud1 hyperinsulinism"," glud1 related hyperinsulinism and hyperammonemia syndrome"," glud1-related hyperinsulinism"," glutamate dehydrogenase 1 hyperinsulinism"," glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome"," hhf6"," hi/ha syndrome"," hyperinsulinemic hypoglycemia, familial, type 6"," hyperinsulinism and hyperammonemia syndrome"," hyperinsulinism/hyperammonemia syndrome"]}