{"orpha":99943,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2J","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2J"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99943/","orphanet_url":"https://www.orpha.net/en/disease/detail/99943","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2J","synonyms":["CMT2J"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2J (CMT2J) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale, caractérisée par une apparition relativement tardive, des anomalies pupillaires et une surdité chez la plupart des patients, associées à une faiblesse musculaire distale et à une atrophie musculaire."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2J","synonyms":["CMT2J"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2J (CMT2J) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Sie ist gekennzeichnet durch relativ spät einsetzende distale Muskelschwäche und Muskelatrophie. Daneben bestehen Anomalien der Hautleisten und Schwerhörigkeit."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2J","definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada por una aparición relativamente tardía, anomalías papilares y sordera, y en la mayoría de los pacientes asociadas con debilidad distal y atrofia muscular."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2J","synonyms":["CMT2J"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2J (CMT2J) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica, caratterizzata da un esordio relativamente tardivo, anomalie papillari e sordità, che nella maggior parte dei pazienti si associano a debolezza distale e atrofia muscolare."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2J","synonyms":["CMT2J"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door een relatief late aanvang, pupilafwijkingen en doofheid, bij de meeste patiënten geassocieerd met zwakte en atrofie van distale spieren."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2J"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2J","synonyms":["CMT2J"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2J","synonyms":["CMT2J","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2J"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2J","synonyms":["CMT2J"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2J型","synonyms":["CMT2J"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2J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，以发病较晚、瞳孔异常和耳聋为特征，在大多数患者中，疾病伴远端肌无力和肌肉萎缩。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2J","synonyms":["CMT2J"]}},"xrefs":[{"source":"OMIM","code":"607736","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":"1498789307"},{"source":"MONDO","code":"0011903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843153","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":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":null}