{"Name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","DiseaseID__c":"GARD:0021446","id":21446,"encodedName":"autosomal-dominant-intermediate-charcot-marie-tooth-disease-with-neuropathic-pain","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","Xref_IDs__c":"778003000; C4755257; MEDGEN:1650625; MONDO:0017937; ORPHA:324585","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:324585","Disease_Description__c":"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.","GARD_Name__c":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","GARD_Synonym__c":"autosomal dominant intermediate cmt disease with neuropathic pain","Curated_Disease_Description_Source__c":"ORPHA:324585","Curated_Disease_Description__c":"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.","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:324585","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017937","ORPHANET_ID__c":"ORPHA:324585","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante con dolor neuropático","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante con dolor neuropático","Spanish_GARD_Synonym__c":null,"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 subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.","Curated_Disease_Description_Source__c":"ORPHA:324585","GARD_Synonym__c":"autosomal dominant intermediate cmt disease with neuropathic pain","Name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pai","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":"All ages","Provided_By__c":"ORPHA:324585"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1650625","Source__c":"C4755257","Xref__c":"MEDGEN:1650625"},{"URL__c":"https://www.orpha.net/en/disease/detail/324585","Source__c":"C4755257; MONDO:0017937; ORPHA:324585","Xref__c":"ORPHA:324585"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755257","Source__c":"C4755257","Xref__c":"C4755257"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017937","Source__c":"GARD:0021446","Xref__c":"MONDO:0017937"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=778003000","Source__c":"C4755257","Xref__c":"778003000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MPZ","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mpz","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 intermediate cmt disease with neuropathic pain"]}