{"orpha":166,"name":"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CMT/HMSN","Charcot-Marie-Tooth hereditary neuropathy"],"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-166/","orphanet_url":"https://www.orpha.net/en/disease/detail/166","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth/Neuropathie sensitivo-motrice héréditaire","synonyms":["CMT/HMSN","Neuropathie héréditaire de Charcot-Marie-Tooth"]},"de":{"name":"Charcot-Marie-Tooth-Krankheit/Hereditäre motorische und sensorische Neuropathie","synonyms":["CMT/HMSN","Hereditäre Neuropathie Charcot-Marie-Tooth"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth/Neuropatía sensitivo-motora hereditaria","synonyms":["CMT/HMSN","Neuropatía hereditaria de Charcot-Marie-Tooth"]},"it":{"name":"Malattia di Charcot-Marie-Tooth","synonyms":["CMT","Neuropatia ereditaria di Charcot-Marie-Tooth"]},"nl":{"name":"Ziekte van Charcot-Marie-Tooth/Erfelijke motorische en sensorische neuropathie","synonyms":["CMT/HMSN","Charcot-Marie-Tooth erfelijke neuropathie"]},"pt":{"name":"Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária"},"pl":{"name":"Choroba Charcota, Mariego i Tootha","synonyms":["CMT","Dziedziczna neuropatia Charcota, Mariego i Tootha"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc","synonyms":["CMT","Charcotova-Marieova-Toothova hereditární neuropatie","Hereditární motorická a senzitivní neuropatie (HMSN)","Charcot-Marie-Toothova nemoc","Charcot-Marie-Toothova hereditární neuropatie"]},"uk":{"name":"Хвороба Шарко-Марі-Тута / Спадкова моторна та сенсорна нейропатія","synonyms":["Спадкова невропатія Шарко-Марі-Тута","CMT/HMSN"]},"zh":{"name":"腓骨肌萎缩症/遗传性运动感觉性神经病","synonyms":["Charcot-Marie-Tooth遗传性神经病"]},"tr":{"name":"Charcot-Marie-Tooth hastalığı / Kalıtsal motor ve duyusal nöropati","synonyms":["CMT / HMSN","Charcot-Marie-Tooth kalıtsal nöropati"]}},"xrefs":[{"source":"ICD-11","code":"8C20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1538134578"},{"source":"MONDO","code":"15626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0007959","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":140450,"name":"OBSOLETE: Hereditary motor and sensory neuropathy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]}],"children":[{"orpha":476109,"name":"Axonal hereditary motor and sensory neuropathy","type":"Clinical group"},{"orpha":476116,"name":"Demyelinating hereditary motor and sensory neuropathy","type":"Clinical group"},{"orpha":2926,"name":"Digital extensor muscle aplasia-polyneuropathy","type":"Malformation syndrome"},{"orpha":476123,"name":"Intermediate Charcot-Marie-Tooth disease","type":"Clinical group"},{"orpha":431320,"name":"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder","type":"Clinical group"},{"orpha":64747,"name":"X-linked Charcot-Marie-Tooth disease","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Not yet validated","source":"21820100[PMID]_20301532[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.95,"area":"United Kingdom","status":"Not yet 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class","class":"1-5 / 10 000","value":12.0,"area":"Iceland","status":"Validated","source":"19893324[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.8,"area":"Japan","status":"Validated","source":"12207153[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Cyprus","status":"Validated","source":"20571287[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"Serbia","status":"Validated","source":"21546779[PMID]"}],"phenotypes":null}