{"Name":"Autosomal dominant slowed nerve conduction velocity","DiseaseID__c":"GARD:0016962","id":16962,"encodedName":"autosomal-dominant-slowed-nerve-conduction-velocity","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant slowed nerve conduction velocity","Xref_IDs__c":"764854006; C1842357; C564269; MEDGEN:330829; MONDO:0011998; OMIM:608236; ORPHA:140481","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011998","Disease_Description__c":"A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the <i>ARGHEF10</i> gene.","GARD_Name__c":"Autosomal dominant slowed nerve conduction velocity","GARD_Synonym__c":"slowed nerve conduction velocity, ad","Curated_Disease_Description_Source__c":"MONDO:0011998","Curated_Disease_Description__c":"A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:140481","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011998","ORPHANET_ID__c":"ORPHA:140481","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Velocidad de conducción nerviosa enlentecida autosómica dominante","Spanish_Description_Source__c":"ORPHA:140481","Spanish_Description__c":"Es una neuropatía sensitivo-motora hereditaria desmielinizante caracterizada por velocidades de conducción nerviosa disminuidas en ausencia de déficits neurológicos clínicamente aparentes, anomalías de la marcha o atrofia muscular y asociada con una mutación de la línea germinal en el gen <i>ARGHEF10</i>.","Spanish_Disease_Name__c":"velocidad de conducción nerviosa enlentecida autosómica dominante","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 hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.","Curated_Disease_Description_Source__c":"MONDO:0011998","GARD_Synonym__c":"slowed nerve conduction velocity, ad","Name":"Autosomal dominant slowed nerve conduction velocity","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:140481"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/608236","Source__c":"C1842357; MONDO:0011998; ORPHA:140481","Xref__c":"OMIM:608236"},{"URL__c":"https://www.orpha.net/en/disease/detail/140481","Source__c":"C1842357; MONDO:0011998; ORPHA:140481","Xref__c":"ORPHA:140481"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764854006","Source__c":"C1842357; MONDO:0011998","Xref__c":"764854006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842357","Source__c":"C1842357","Xref__c":"C1842357"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330829","Source__c":"C1842357","Xref__c":"MEDGEN:330829"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564269","Source__c":"MONDO:0011998","Xref__c":"C564269"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011998","Source__c":"GARD:0016962","Xref__c":"MONDO:0011998"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARHGEF10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608236","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:608236","Feature__r":{"HPO_Description__c":"A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011096","HPO_Synonym__c":"Demyelination","HPO_Name__c":"Peripheral demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608236","Feature__r":{"HPO_Description__c":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003383","HPO_Name__c":"Onion bulb formation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["slowed nerve conduction velocity, ad"]}