{"orpha":140481,"name":"Autosomal dominant slowed nerve conduction velocity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140481/","orphanet_url":"https://www.orpha.net/en/disease/detail/140481","names":{"fr":{"name":"Ralentissement de la vitesse de conduction nerveuse, forme autosomique dominante","definition":"Une neuropathie sensorimotrice démyélinisante héréditaire, caractérisée par un ralentissement de la vitesse de conduction nerveuse sans trouble neurologique clinique apparent, et sans anomalie de la marche ou atrophie musculaire. Elle est associée à une mutation germinale du gène <i>ARGHEF10</i>."},"de":{"name":"Verlangsamte Nervenleitgeschwindigkeit, autosomal-dominante","definition":"Eine seltene hereditäre demyelinisierende motorische und sensorische Neuropathie, die durch verlangsamte Nervenleitgeschwindigkeiten in Abwesenheit von klinisch sichtbaren neurologischen Defiziten, Gangstörungen oder Muskelatrophie gekennzeichnet ist und mit einer Keimbahnmutation im <i>ARGHEF10</i>-Gen assoziiert ist."},"es":{"name":"Velocidad de conducción nerviosa enlentecida autosómica dominante","definition":"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>."},"it":{"name":"Rallentamento della velocità di conduzione nervosa, autosomico dominante","definition":"Il rallentamento della velocità di conduzione nervosa ad eredità autosomica dominante è una neuropatia motoria e sensoriale demielinizzante ereditaria, caratterizzata dal rallentamento della velocità di conduzione nervosa, in assenza di deficit neurologici evidenti dal punto di vista clinico, anomalie dell'andatura o atrofia muscolare. Si associa a una mutazione germinale del gene <i>ARGHEF10</i> 10."},"nl":{"name":"Autosomaal dominante vertraagde zenuwgeleidingssnelheid","definition":"Een zeldzame, erfelijke, demyeliniserende motorische en sensorische neuropathie, gekarakteriseerd door vertraagde zenuwgeleidingssnelheden, in afwezigheid van klinisch zichtbare neurologische defecten, gangstoornissen of spieratrofie, geassocieerd met een kiembaanmutatie in het gen <i>ARGHEF10</i>."},"pt":{"name":"Velocidade da condução nervosa reduzida autossómica dominante"},"pl":{"name":"Autosomalna dominująca zwolniona prędkość przewodzenia nerwowego"},"cs":{"name":"Autozomálně dominantně dědičná zpomalená rychlost vedení nervem"},"uk":{"name":"Аутосомно-домінантна сповільнена швидкість нервової провідності","definition":"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."},"zh":{"name":"常染色体显性遗传神经传导速度减缓","definition":"一种罕见的遗传性脱髓鞘性运动和感觉神经病，其特征是神经传导速度减慢，临床上无明显神经功能缺损、步态异常或肌肉萎缩，与ARGHEF10基因的种系突变有关。"},"tr":{"name":"Otozomal dominant yavaşlayan sinir iletim hızı"}},"xrefs":[{"source":"OMIM","code":"608236","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011998","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564269","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842357","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ARHGEF10","name":"Rho guanine nucleotide exchange factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14508709[PMID]","hgnc":"14103","ensembl":"ENSG00000104728","omim":"608136","loci":["8p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"9678704[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9678704[PMID]"}],"phenotypes":null}