{"orpha":435819,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2 due to TFG mutation"],"definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435819/","orphanet_url":"https://www.orpha.net/en/disease/detail/435819","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de TFG","synonyms":["CMT2 due à une mutation de TFG"],"definition":"Neuropathie sensitivomotrice héréditaire axonale rare caractérisée par l'apparition, à l'âge adulte, d'une faiblesse et d'une atrophie musculaires distales, lentement progressives, d'une diminution des réflexes tendineux profonds des membres inférieurs et d'une légère perte sensorielle distale, entraînant des troubles de la marche chez la plupart des patients."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch TFG-Genmutation","synonyms":["CMT2 durch TFG-Genmutation"],"definition":"Eine axonale Form der hereditären motorischen und sensorischen Neuropathie, die sich im Erwachsenenalter durch langsam fortschreitende distale Muskelschwäche und -atrophie, verminderte tiefe Sehnenreflexe der unteren Gliedmaßen und einen leichten distalen sensorischen Verlust auszeichnet, der bei den meisten Patienten zu Gangschwierigkeiten führt."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen TFG","synonyms":["CMT2 por una mutación en el gen TFG"],"definition":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por atrofia y debilidad muscular distal lentamente progresiva de inicio en el adulto, disminución de los reflejos osteotendinosos de las extremidades inferiores y leve pérdida sensitiva distal que ocasiona dificultades de la marcha en la mayoría de los pacientes."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2, da mutazione di TFG","synonyms":["CMT2 da mutazione di TFG"],"definition":"È una neuropatia motoria e sensoriale assonale ereditaria rara ad esordio nell'età adulta, caratterizzata da debolezza e atrofia a progressione lenta dei muscoli distali, riduzione dei riflessi tendinei profondi negli arti inferiori e lieve perdita sensoriale distale che, nella maggior parte dei pazienti, causa difficoltà di deambulazione."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door TFG-mutatie","synonyms":["CMT2 door TFG-mutatie"],"definition":"Een zeldzame, axonale, erfelijke motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de volwassenheid van traag progressieve zwakte en atrofie van distale spieren, verminderde diepe peesreflexen in onderste ledematen, en mild distaal zintuiglijk verlies dat bij de meeste patiënten leidt tot gangstoornissen."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 por mutação TGF"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 spowodowana mutacją TFG","synonyms":["CMT2 spowodowana mutacją TFG"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobená mutacemi v TFG genu","synonyms":["CMT2 způsobená mutacemi v TFG genu","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobená mutacemi v TFG genu"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією TFG","synonyms":["CMT2 через мутацію TFG"],"definition":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients."},"zh":{"name":"TFG突变所致常染色体显性遗传性夏科-马里-图斯病2型","synonyms":["TFG突变导致的CMT2"],"definition":"一种罕见的轴突性遗传运动和感觉神经疾病，其特征是成年期起病的缓慢进展的远端肌无力和萎缩，下肢腱反射减弱，远端轻度远端感觉丧失导致大多数患者步态困难。"},"tr":{"name":"TFG mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2","synonyms":["TFG mutasyonuna bağlı CMT2"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569028","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TFG","name":"trafficking from ER to golgi regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25098539[PMID]","hgnc":"11758","ensembl":"ENSG00000114354","omim":"602498","loci":["3q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25098539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25098539[PMID]"}],"phenotypes":null}