{"Name":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","DiseaseID__c":"GARD:0017916","id":17916,"encodedName":"mme-related-autosomal-dominant-charcot-marie-tooth-disease-type-2","IsDeleted":false,"Disease_Name_Full__c":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","Xref_IDs__c":"1172585006; C5567450; MEDGEN:1798873; MONDO:0044657; ORPHA:497757","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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:497757","Disease_Description__c":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.","GARD_Name__c":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","GARD_Synonym__c":"membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2; mme-related autosomal dominant cmt2; mme-related autosomal dominant hereditary motor and sensory neuropathy type 2","Curated_Disease_Description_Source__c":"ORPHA:497757","Curated_Disease_Description__c":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:497757","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044657","ORPHANET_ID__c":"ORPHA:497757","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2 asociada al gen mme","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2 asociada al gen mme","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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 adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.","Curated_Disease_Description_Source__c":"ORPHA:497757","GARD_Synonym__c":"membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2; mme-related autosomal dominant cmt2; mme-related autosomal dominant hereditary motor and sensory neuropathy type 2","Name":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","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":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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:497757"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567450","Source__c":"C5567450","Xref__c":"C5567450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798873","Source__c":"C5567450","Xref__c":"MEDGEN:1798873"},{"URL__c":"https://www.orpha.net/en/disease/detail/497757","Source__c":"C5567450; MONDO:0044657; ORPHA:497757","Xref__c":"ORPHA:497757"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044657","Source__c":"GARD:0017916","Xref__c":"MONDO:0044657"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172585006","Source__c":"C5567450","Xref__c":"1172585006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MME","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Dermatology","Neuromuscular medicine"],"Disease Category":["Cancer","Genetics","Neurology","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology","Peripheral Neuropathy"]},"synonyms":["membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2"," mme-related autosomal dominant cmt2"," mme-related autosomal dominant hereditary motor and sensory neuropathy type 2"]}