{"Name":"Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation","DiseaseID__c":"GARD:0021999","id":21999,"encodedName":"autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-dgat2-mutation","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation","Xref_IDs__c":"1172684002; C5567515; MEDGEN:1798938; MONDO:0044625; ORPHA:487814","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:487814","Disease_Description__c":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.","GARD_Name__c":"Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2 due to diacylglycerol o-acyltransferase 2 mutation; cmt2 due to dgat2 mutation","Curated_Disease_Description_Source__c":"ORPHA:487814","Curated_Disease_Description__c":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:487814","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044625","ORPHANET_ID__c":"ORPHA:487814","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2 por una mutación en el gen dgat2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2 por una mutación en el gen dgat2","Spanish_GARD_Synonym__c":"cmt2 por una mutación en el gen dgat2","Category_Linearization__c":"ORPHA:98006","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 autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.","Curated_Disease_Description_Source__c":"ORPHA:487814","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2 due to diacylglycerol o-acyltransferase 2 mutation; cmt2 due to dgat2 mutation","Name":"Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:487814"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/487814","Source__c":"C5567515; MONDO:0044625; ORPHA:487814","Xref__c":"ORPHA:487814"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567515","Source__c":"C5567515","Xref__c":"C5567515"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798938","Source__c":"C5567515","Xref__c":"MEDGEN:1798938"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172684002","Source__c":"C5567515","Xref__c":"1172684002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044625","Source__c":"GARD:0021999","Xref__c":"MONDO:0044625"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DGAT2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant charcot-marie-tooth disease type 2 due to diacylglycerol o-acyltransferase 2 mutation"," cmt2 due to dgat2 mutation"]}