{"Name":"Hypoinsulinemic hypoglycemia and body hemihypertrophy","DiseaseID__c":"GARD:0017352","id":17352,"encodedName":"hypoinsulinemic-hypoglycemia-and-body-hemihypertrophy","IsDeleted":false,"Disease_Name_Full__c":"Hypoinsulinemic hypoglycemia and body hemihypertrophy","Xref_IDs__c":"C3278384; DOID:0112263; MEDGEN:480014; MONDO:0009416; OMIM:240900; ORPHA:293964","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:293964","Disease_Description__c":"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.","GARD_Name__c":"Hypoinsulinemic hypoglycemia and body hemihypertrophy","GARD_Synonym__c":"hypoinsulinemic hypoglycemia and hemihypertrophy","Curated_Disease_Description_Source__c":"ORPHA:293964","Curated_Disease_Description__c":"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:293964","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009416","ORPHANET_ID__c":"ORPHA:293964","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoglucemia hipoinsulinémica y hemihipertrofia corporal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipoglucemia hipoinsulinémica y hemihipertrofia corporal","Spanish_GARD_Synonym__c":null,"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":"Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.","Curated_Disease_Description_Source__c":"ORPHA:293964","GARD_Synonym__c":"hypoinsulinemic hypoglycemia and hemihypertrophy","Name":"Hypoinsulinemic hypoglycemia and body hemihypertrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293964"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293964"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=480014","Source__c":"C3278384","Xref__c":"MEDGEN:480014"},{"URL__c":"https://www.orpha.net/en/disease/detail/293964","Source__c":"C3278384; MONDO:0009416","Xref__c":"ORPHA:293964"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112263","Source__c":"MONDO:0009416","Xref__c":"DOID:0112263"},{"URL__c":"https://www.omim.org/entry/240900","Source__c":"C3278384; MONDO:0009416; ORPHA:293964","Xref__c":"OMIM:240900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3278384","Source__c":"C3278384","Xref__c":"C3278384"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009416","Source__c":"GARD:0017352","Xref__c":"MONDO:0009416"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AKT2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030781","HPO_Name__c":"Increased circulating free fatty acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001528","HPO_Synonym__c":"Asymmetric limb hypertrophy; Asymmetric overgrowth","HPO_Name__c":"Hemihypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001958","HPO_Name__c":"Nonketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in the amount of glycogen stored in hepatocytes compared to normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006568","HPO_Synonym__c":"Increased liver glycogen content","HPO_Name__c":"Increased hepatic glycogen content","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030812","HPO_Synonym__c":"Enlargement of tonsils; Tonsillar hypertrophy; tonsils large/hypertrophy","HPO_Name__c":"Enlarged tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:293964","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of insulin in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040214","HPO_Synonym__c":"Abnormal insulin level","HPO_Name__c":"Abnormal circulating insulin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293964","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:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coma induced by low blood sugar.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001325","HPO_Synonym__c":"Coma caused by low blood sugar; Coma, hypoglycemic; Hypoglycaemic coma; Hypoglycemic coma; Loss of consciousness due to hypoglycemia","HPO_Name__c":"Hypoglycemic coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293964","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Obesity located preferentially in the trunk of the body as opposed to the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001956","HPO_Synonym__c":"Centripetal obesity; Truncal obesity","HPO_Name__c":"Truncal obesity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["hypoinsulinemic hypoglycemia and hemihypertrophy"]}