{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant axonal Charcot-Marie-Tooth disease","CMT2","Hereditary motor and sensory neuropathy type 2"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-64746/","orphanet_url":"https://www.orpha.net/en/disease/detail/64746","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2","synonyms":["CMT2","Maladie de Charcot-Marie-Tooth axonale autosomique dominante","Neuropathie sensitivo-motrice héréditaire type 2"]},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2","synonyms":["CMT2","Charcot-Marie-Tooth-Krankheit, axonale, autosomal-dominante Formen","HMSN2","Neuropathie, hereditäre motorisch-sensorische, Typ 2"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2","synonyms":["CMT2","Enfermedad de Charcot-Marie-Tooth axonal autosómica dominante","Neuropatía sensitivo-motora hereditaria tipo 2"]},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2","synonyms":["Malattia assonale di Charcot-Marie-Tooth, autosomica dominante","Neuropatia sensitivo-motoria ereditaria, tipo 2"]},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2","synonyms":["Autosomaal dominante axonale ziekte van Charcot-Marie-Tooth","CMT2","Erfelijke neurotische en sensorische neuropathie type 2"]},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2","synonyms":["CMT2","Doença de Charcot-Marie-Tooth axonal"]},"pl":{"name":"Autosomalna dominująca choroba Charcot, Marie i Tooth typu 2","synonyms":["Autosomalna dominująca aksonalna choroba Charcot, Marie i Tooth","CMT2","Dziedziczna neuropatia ruchowa i czuciowa typu 2"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2","synonyms":["CMT2","Hereditární motorická a sensorická neuropatie, typ 2","Autozomálně dominantní Charcotova-Marieova-Toothova nemoc","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2","Autozomálně dominantní Charcot-Marie-Toothova nemoc"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2","synonyms":["Аутосомно-домінантна аксональна хвороба Шарко-Марі-Тута","CMT2","Спадкова моторна та сенсорна нейропатія типу 2"]},"zh":{"name":"常染色体显性腓骨肌萎缩症2型","synonyms":["常染色体显性遗传性轴索型性Charcot-Marie-Tooth病"]},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2","synonyms":["CMT2","Kalıtsal motor ve duyusal nöropati tip 2","Otozomal dominant aksonal Charcot-Marie-Tooth hastalığı"]}},"xrefs":[{"source":"ICD-11","code":"8C20.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"403896648"},{"source":"MONDO","code":"0018993","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548211","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140456,"name":"Autosomal dominant hereditary axonal motor and sensory neuropathy","classifications":[156,181]}],"children":[{"orpha":487814,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation","type":"Disease"},{"orpha":324611,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","type":"Disease"},{"orpha":435819,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","type":"Disease"},{"orpha":401964,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons","type":"Disease"},{"orpha":99946,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2A1","type":"Disease"},{"orpha":99947,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2A2","type":"Disease"},{"orpha":99936,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2B","type":"Disease"},{"orpha":99937,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2C","type":"Disease"},{"orpha":99938,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2D","type":"Disease"},{"orpha":521414,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2DD","type":"Disease"},{"orpha":99939,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2E","type":"Disease"},{"orpha":99940,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2F","type":"Disease"},{"orpha":99942,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2I","type":"Disease"},{"orpha":99943,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2J","type":"Disease"},{"orpha":99944,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2K","type":"Disease"},{"orpha":99945,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2L","type":"Disease"},{"orpha":228179,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2M","type":"Disease"},{"orpha":228174,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2N","type":"Disease"},{"orpha":284232,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2O","type":"Disease"},{"orpha":329258,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2Q","type":"Disease"},{"orpha":397735,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2U","type":"Disease"},{"orpha":447964,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2V","type":"Disease"},{"orpha":488333,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2W","type":"Disease"},{"orpha":435387,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2Y","type":"Disease"},{"orpha":466768,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2Z","type":"Disease"},{"orpha":300319,"name":"Charcot-Marie-Tooth disease type 2P","type":"Disease"},{"orpha":497757,"name":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}