{"orpha":228179,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2M","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2M"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228179/","orphanet_url":"https://www.orpha.net/en/disease/detail/228179","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2M","synonyms":["CMT2M"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2M (CMT2M) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie périphérique motrice et sensorielle) axonale. La CMT2M est caractérisée par un ptosis congénital et une cataracte précoce, associés à une neuropathie périphérique modérément progressive dont l'apparition varie entre la naissance et la sixième décennie, des pieds creux (pes cavus), un réflexe achilléen réduit ou absent, et parfois une neutropénie."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M","synonyms":["CMT2M"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2M (CMT2M) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Die CMT2M ist gekennzeichnet durch kongenitale Ptose und frühe Katarakt mit langsam progredienter peripherer Neuropathie (deren Beginn von der Geburt bis zum 6. Lebensjahrzehnt reicht), mit Pes cavus, abgeschwächtem oder fehlendem Achillesehnensreflex und manchmal Neutropenie."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2M","synonyms":["CMT2M"],"definition":"Es una forma axonal de la enfermedad de Charcot-Marie-Tooth, una neuropatía periférica sensorial y motora caracterizada por ptosis congénita y cataratas tempranas asociadas a una neuropatía periférica progresiva leve de aparición variable, entre el nacimiento y la 6ª década de vida, pie cavo, reflejos tendinosos en los tobillos entre reducidos y ausentes, y algunas veces neutropenia."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2M","synonyms":["CMT2M"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2M (CMT2M) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica. La CMT2M è caratterizzata da ptosi congenita e cataratta precoce, associate a neuropatia periferica a progressione lenta ed esordio variabile (dalla nascita alle sesta decade), piedi cavi, assenza o diminuzione dei riflessi tendinei delle caviglie e, a volte, neutropenia."},"nl":{"name":"Autosomale dominante ziekte van Charcot-Marie-Tooth type 2M","synonyms":["CMT2M"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere motorische en sensorische neuropathie, gekarakteriseerd door congenitale ptose en vroeg cataract geassocieerd met een mild progressieve perifere neuropathie met variabele aanvang vanaf de geboorte tot het zesde levensdecennium, pes cavus, verminderde tot afwezige peesreflexen van enkel en soms neutropenie."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2M"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2M","synonyms":["CMT2M"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2M","synonyms":["CMT2M","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2M"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2М","synonyms":["CMT2M"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia."},"zh":{"name":"常染色体显性遗传夏科-马里-图斯病2M型","synonyms":["CMT2M"],"definition":"一种轴索性腓骨肌萎缩症（夏科-马里-图斯病），一种外周运动和感觉神经病变，其特征是先天性上睑下垂和早期白内障（与从刚出生到六十岁都可发病的轻度进展性周围神经病变相关），内翻足，踝关节腱反射减退至缺失，有时出现中性粒细胞减少。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2M","synonyms":["CMT2M"]}},"xrefs":[{"source":"OMIM","code":"606482","qualifier":"NTBT","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":"1601555981"},{"source":"MONDO","code":"0016431","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304672","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":"DNM2","name":"dynamin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18394888[PMID]_17636067[PMID]","hgnc":"2974","ensembl":"ENSG00000079805","omim":"602378","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}