{"Name":"Charcot-Marie-Tooth disease, type I","DiseaseID__c":"GARD:0012433","id":12433,"encodedName":"charcot-marie-tooth-disease-type-i","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease, type I","Xref_IDs__c":"398040009; C0751036; DOID:0050538; MEDGEN:155486; MONDO:0019011; ORPHA:65753","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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":4,"Description_Source__c":"MONDO:0019011","Disease_Description__c":"Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.","GARD_Name__c":"Charcot-Marie-Tooth disease, type I","GARD_Synonym__c":"autosomal dominant demyelinating charcot-marie-tooth disease; charcot marie tooth disease, type 1; charcot-marie-tooth disease of demyelinating type; charcot-marie-tooth disease type 1; charcot-marie-tooth neuropathy type 1; charcot-marie-tooth, type 1; cmt1; hereditary motor and sensory neuropathy type 1; hereditary motor and sensory neuropathy type i; hereditary sensory-motor neuropathy, type i; hsmn, type i; inherited dominant hypertrophic neuropathy; peroneal muscular atrophy of demyelinating type","Curated_Disease_Description_Source__c":"GARD:0012433","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. The condition is usually slowly progressive. Signs and symptoms include distal muscle weakness and wasting (atrophy); sensory loss; and slow nerve conduction velocity. It is often associated with pes cavus foot deformity (high arch) and bilateral foot drop. Fewer than 5% of people with CMT1 become wheelchair dependent. CMT1 is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:65753","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019011","ORPHANET_ID__c":"ORPHA:65753","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 1","Spanish_Description_Source__c":"ORPHA:65753","Spanish_Description__c":"La enfermedad de Charcot-Marie-Tooth tipo 1 (CMT1) es un grupo de neuropatías periféricas desmielinizantes autosómicas dominantes caracterizadas por debilidad y atrofia distal, pérdida sensorial, deformidades del pie y una baja velocidad de conducción nerviosa.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 1","Spanish_GARD_Synonym__c":"enfermedad de charcot-marie-tooth desmielinizante autosómica dominante; neuropatía de charcot-marie-tooth tipo 1","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":"Charcot-Marie-Tooth disease type 1 (CMT1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. The condition is usually slowly progressive. Signs and symptoms include distal muscle weakness and wasting (atrophy); sensory loss; and slow nerve conduction velocity. It is often associated with pes cavus foot deformity (high arch) and bilateral foot drop. Fewer than 5% of people with CMT1 become wheelchair dependent. CMT1 is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0012433","GARD_Synonym__c":"autosomal dominant demyelinating charcot-marie-tooth disease; charcot marie tooth disease, type 1; charcot-marie-tooth disease of demyelinating type; charcot-marie-tooth disease type 1; charcot-marie-tooth neuropathy type 1; charcot-marie-tooth, type 1; cmt1; hereditary motor and sensory neuropathy type 1; hereditary motor and sensory neuropathy type i; hereditary sensory-motor neuropathy, type i; hsmn, type i; inherited dominant hypertrophic neuropathy; peroneal muscular atrophy of demyelinating type","Name":"Charcot-Marie-Tooth disease, type I","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"}],"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":"Adult","Provided_By__c":"ORPHA:65753"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:65753"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:65753"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:65753"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050538","Source__c":"MONDO:0019011","Xref__c":"DOID:0050538"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155486","Source__c":"C0751036","Xref__c":"MEDGEN:155486"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=398040009","Source__c":"C0751036; MONDO:0019011","Xref__c":"398040009"},{"URL__c":"https://www.orpha.net/en/disease/detail/65753","Source__c":"C0751036; MONDO:0019011; ORPHA:65753","Xref__c":"ORPHA:65753"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751036","Source__c":"C0751036","Xref__c":"C0751036"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019011","Source__c":"GARD:0012433","Xref__c":"MONDO:0019011"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant demyelinating charcot-marie-tooth disease"," charcot marie tooth disease, type 1"," charcot-marie-tooth disease of demyelinating type"," charcot-marie-tooth disease type 1"," charcot-marie-tooth neuropathy type 1"," charcot-marie-tooth, type 1"," cmt1"," hereditary motor and sensory neuropathy type 1"," hereditary motor and sensory neuropathy type i"," hereditary sensory-motor neuropathy, type i"," hsmn, type i"," inherited dominant hypertrophic neuropathy"," peroneal muscular atrophy of demyelinating type"],"spanishId":13520,"spanishName":"enfermedad-de-charcot-marie-tooth-tipo-1"}