{"orpha":101102,"name":"Charcot-Marie-Tooth disease type 2H","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-CMT2C","Autosomal recessive axonal CMT4C2","Axonal Charcot-Marie-Tooth disease with pyramidal involvement","CMT2H"],"definition":"Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101102/","orphanet_url":"https://www.orpha.net/en/disease/detail/101102","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2H","synonyms":["AR-CMT2C","CMT2H","CMT4C2 axonale autosomique récessive","Maladie de Charcot-Marie-Tooth axonale type 2 avec atteinte pyramidale"],"definition":"La maladie de Charcot-Marie-Tooth type 2H (CMT2H) est une forme axonale de polyneuropathie sensitivo-motrice périphérique (CMT) avec atteinte pyramidale."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2H","synonyms":["AR-CMT2C","CMT2H","Charcot-Marie-Tooth-Krankheit, axonal, mit Pyramidenbahn-Beteiligung"],"definition":"Der Typ 2H der Charcot-Marie-Tooth-Krankheit (CMT2H) ist eine axonale, periphere, sensomotorische CMT-Polyneuropathie mit Beteiligung der Pyramidenbahn."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2H","synonyms":["CMT2C-AR","CMT2H","CMT4C2 axonal autosómica recesiva","Enfermedad de Charcot-Marie-Tooth axonal con afectación piramidal"],"definition":"La enfermedad de Charcot-Marie-Tooth, tipo 2H (CMT2H, también referida como CMT4C2) es una polineuropatía motora y sensitiva periférica CMT axonal asociada a afectación piramidal."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 2H","synonyms":["AR-CMT2C","CMT4C2 assonale autosomica recessiva","Malattia assonale di Charcot-Marie-Tooth con coinvolgimento piramidale"]},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2H","synonyms":["AR-CMT2C","Autosomaal recessieve axonale CMT4C2","Axonale ziekte van Charcot-Marie-Tooth met piramidale betrokkenheid","CMT2H"],"definition":"Een perifere axonale sensomotorische polyneuropathie van Charcot-Marie-Tooth geassocieerd met piramidale betrokkenheid."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2H","definition":"A doença de Charcot-Marie-Tooth, tipo 2H (CMT2H, também denominada como CMT4C2) é uma polineuropatia periférica sensitivomotora axonal associada a envolvimento piramidal."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2H","synonyms":["CMT2H","AR-CMT2C","Autosomalna recesywna aksonalna CMT4C2","Aksonalna choroba Charcota, Mariego i Tootha z objawami piramidowymi"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 2H","synonyms":["AR-CMT2C","Axonální Charcotova-Marieova-Toothova nemoc se zahrnutím pyramidy","Autozomálně recesivní axonální CMT4C2","Charcot-Marie-Toothova nemoc, typ 2H","Axonální Charcot-Marie-Toothova nemoc se zahrnutím pyramidy"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2H","synonyms":["AR-CMT2C","Аутосомно-рецесивний аксональний CMT4C2","Аксональна хвороба Шарко-Марі-Тута з пірамідним ураженням","CMT2H"],"definition":"Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement."},"zh":{"name":"夏科-马里-图斯病2H型","synonyms":["轴索性CMT病伴锥体系受累"],"definition":"Charcot-Marie-Tooth病2H型(CMT2H，又称CMT4C2)是一种伴有锥体受累的轴索性CMT外周感觉运动性多神经病"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 2H","synonyms":["CMT2H","AR-CMT2C","Otozomal çekinik aksonal CMT4C2","Piramidal tutulumlu aksonal Charcot-Marie-Tooth hastalığı"]}},"xrefs":[{"source":"OMIM","code":"607731","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":"1657827202"},{"source":"MONDO","code":"0011901","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535415","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843173","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GDAP1","name":"ganglioside induced differentiation associated protein 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301462[PMID]","hgnc":"15968","ensembl":"ENSG00000104381","omim":"606598","loci":["8q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"11166163[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11166163[PMID]"}],"phenotypes":null}