{"Name":"Autosomal dominant Charcot-Marie-Tooth disease type 2M","DiseaseID__c":"GARD:0017147","id":17147,"encodedName":"autosomal-dominant-charcot-marie-tooth-disease-type-2m","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2M","Xref_IDs__c":"719514002; C4304672; MEDGEN:930341; MONDO:0016431; ORPHA:228179","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016431","Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.","GARD_Name__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2M","GARD_Synonym__c":"charcot-marie-tooth disease, axonal, autosomal dominant, type 2m; charcot-marie-tooth disease, axonal, type 2m; charcot-marie-tooth disease, type 2m; charcot-marie-tooth neuropathy, axonal, type 2m; cmt2m","Curated_Disease_Description_Source__c":"MONDO:0016431","Curated_Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:228179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016431","ORPHANET_ID__c":"ORPHA:228179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2m","Spanish_Description_Source__c":"ORPHA:228179","Spanish_Description__c":"Es una forma axonal de la enfermedad de Charcot-Marie-Tooth, una neuropatía periférica sensorial y motora caracterizada por ptosis congénita y cataratas tempranas asociadas a una neuropatía periférica progresiva leve de aparición variable, entre el nacimiento y la 6ª década de vida, pie cavo, reflejos tendinosos en los tobillos entre reducidos y ausentes, y algunas veces neutropenia.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2m","Spanish_GARD_Synonym__c":"cmt2m","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 form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.","Curated_Disease_Description_Source__c":"MONDO:0016431","GARD_Synonym__c":"charcot-marie-tooth disease, axonal, autosomal dominant, type 2m; charcot-marie-tooth disease, axonal, type 2m; charcot-marie-tooth disease, type 2m; charcot-marie-tooth neuropathy, axonal, type 2m; cmt2m","Name":"Autosomal dominant Charcot-Marie-Tooth disease type 2M","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:228179"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Source__c":"Gene Review","Xref__c":"NBK1358"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719514002","Source__c":"C4304672; MONDO:0016431","Xref__c":"719514002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304672","Source__c":"C4304672","Xref__c":"C4304672"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930341","Source__c":"C4304672","Xref__c":"MEDGEN:930341"},{"URL__c":"https://www.orpha.net/en/disease/detail/228179","Source__c":"C4304672; MONDO:0016431; ORPHA:228179","Xref__c":"ORPHA:228179"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016431","Source__c":"GARD:0017147","Xref__c":"MONDO:0016431"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dnm2","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":["charcot-marie-tooth disease, axonal, autosomal dominant, type 2m"," charcot-marie-tooth disease, axonal, type 2m"," charcot-marie-tooth disease, type 2m"," charcot-marie-tooth neuropathy, axonal, type 2m"," cmt2m"]}