{"Name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","DiseaseID__c":"GARD:0021447","id":21447,"encodedName":"autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-kif5a-mutation","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","Xref_IDs__c":"764730007; C4707173; MEDGEN:1633598; MONDO:0017940; ORPHA:324611","USA_Estimate__c":null,"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":null,"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":5,"Description_Source__c":"MONDO:0017940","Disease_Description__c":"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.","GARD_Name__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2 due to kinesin family member 5a mutation; cmt2 due to kif5a mutation","Curated_Disease_Description_Source__c":"MONDO:0017940","Curated_Disease_Description__c":"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:324611","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017940","ORPHANET_ID__c":"ORPHA:324611","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 kif5a","Spanish_Description_Source__c":"ORPHA:324611","Spanish_Description__c":"Es una forma poco frecuente de neuropatía periférica sensitivo-motora axonal caracterizada por los signos y síntomas clásicos de CMT2 (debilidad progresiva y atrofia de los músculos distales de las extremidades, leve afectación de la sensibilidad posicional, vibratoria y termoalgésica, pie cavo, y potenciales de acción muscular y sensitivo ausentes o reducidos de forma simétrica con velocidades de conducción nerviosa relativamente conservadas en estudios neurofisiológicos), así como afectación piramidal (espasticidad, hiperreflexia). La espasticidad y el dolor pueden ser los síntomas de presentación.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2 por una mutación en el gen kif5a","Spanish_GARD_Synonym__c":"cmt2 por una mutación en el gen kif5a","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 form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.","Curated_Disease_Description_Source__c":"MONDO:0017940","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2 due to kinesin family member 5a mutation; cmt2 due to kif5a mutation","Name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:324611"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:324611"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:324611"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:324611"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:324611"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/324611","Source__c":"C4707173; MONDO:0017940; ORPHA:324611","Xref__c":"ORPHA:324611"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764730007","Source__c":"C4707173; MONDO:0017940","Xref__c":"764730007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707173","Source__c":"C4707173","Xref__c":"C4707173"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1633598","Source__c":"C4707173","Xref__c":"MEDGEN:1633598"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017940","Source__c":"GARD:0021447","Xref__c":"MONDO:0017940"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIF5A","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 charcot-marie-tooth disease type 2 due to kinesin family member 5a mutation"," cmt2 due to kif5a mutation"]}