{"Name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","DiseaseID__c":"GARD:0021815","id":21815,"encodedName":"autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-tfg-mutation","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","Xref_IDs__c":"1187566006; C5569028; MEDGEN:1800451; MONDO:0018567; ORPHA:435819","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:435819","Disease_Description__c":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.","GARD_Name__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation; cmt2 due to tfg mutation","Curated_Disease_Description_Source__c":"ORPHA:435819","Curated_Disease_Description__c":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:435819","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018567","ORPHANET_ID__c":"ORPHA:435819","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 tfg","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 tfg","Spanish_GARD_Synonym__c":"cmt2 por una mutación en el gen tfg","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, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.","Curated_Disease_Description_Source__c":"ORPHA:435819","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation; cmt2 due to tfg mutation","Name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:435819"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/435819","Source__c":"C5569028; MONDO:0018567; ORPHA:435819","Xref__c":"ORPHA:435819"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800451","Source__c":"C5569028","Xref__c":"MEDGEN:1800451"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5569028","Source__c":"C5569028","Xref__c":"C5569028"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018567","Source__c":"GARD:0021815","Xref__c":"MONDO:0018567"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187566006","Source__c":"C5569028","Xref__c":"1187566006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TFG","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"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant charcot-marie-tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation"," cmt2 due to tfg mutation"]}