{"orpha":99937,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2C","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2C"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99937/","orphanet_url":"https://www.orpha.net/en/disease/detail/99937","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2C","synonyms":["CMT2C"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2C (CMT2C) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale, caractérisée par l'association d'anomalies des cordes vocales, d'une détérioration des muscles respiratoires et d'une surdité neurosensorielle, avec une faiblesse musculaire distale des mains et des pieds. La maladie apparaît entre l'enfance et la sixième décennie."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2C","synonyms":["CMT2C"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2C (CMT2C) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Sie ist gekennzeichnet durch die Assoziation von Anomalien der Stimmbänder, Beeinträchtigung der Atemmuskulatur, Schallempfindungs-Schwerhörigkeit und distale Muskelschwäche an Händen und Füßen. Der Beginn der Erkrankung liegt zwischen dem Säuglingsalter und dem 6. Lebensjahrzehnt."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2C","definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada por la asociación de anomalías en las cuerdas vocales, afectación de los músculos respiratorios y pérdida de audición neurosensorial con debilidad distal en manos y pies. Debuta entre el periodo de lactancia y la 6ª década de vida."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2C","synonyms":["CMT2C"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2C (CMT2C) è una forma della Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica, caratterizzata dall'associazione tra anomalie delle corde vocali, deterioramento dei muscoli respiratori e sordità neurosensoriale, associati a debolezza distale delle mani e dei piedi. La malattia esordisce tra il periodo neonatale e la sesta decade di vita."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2C","synonyms":["CMT2C"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door de associatie van stembandanomalieën, functiestoornis van ademhalingsspieren en sensorineuraal gehoorverlies met zwakte van distale handen en voeten. De aandoening vangt aan tussen de zuigelingentijd en het zesde levensdecennium."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2C"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2C","synonyms":["CMT2C"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2C","synonyms":["CMT2C","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2C"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2С","synonyms":["CMT2C"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2C型","synonyms":["CMT2C"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2C型是轴索性Charcot-Marie-Tooth病的一种形式，是一种外周感觉运动性神经病，其特征是声带异常、呼吸肌损伤和感觉神经性听力丧失与手脚远端无力有关。发病时间在婴儿期到六十几岁之间。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2C","synonyms":["CMT2C"]}},"xrefs":[{"source":"OMIM","code":"606071","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2074400987"},{"source":"MONDO","code":"0011633","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853710","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":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"20037586[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"20037586[PMID]_ORPHANET"}],"phenotypes":null}