{"orpha":101101,"name":"Charcot-Marie-Tooth disease type 2B2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-CMT2B2","Autosomal recessive axonal CMT4C3","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"],"definition":"Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101101/","orphanet_url":"https://www.orpha.net/en/disease/detail/101101","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2B2","synonyms":["AR-CMT2B2","CMT4C3 axonale autosomique récessive","Maladie de Charcot-Marie-Tooth type 2B2 axonale autosomique récessive"],"definition":"La maladie de Charcot-Marie-Tooth type 2B2 (CMT2B2) est une forme axonale de polyneuropathie sensitivo-motrice périphérique (CMT)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2B2","synonyms":["AR-CMT2B2","Charcot-Marie-Tooth-Krankheit, axonale, autosomal-rezessive, Typ 2B2"],"definition":"Der Typ 2B2 der Charcot-Marie-Tooth-Krankheit (CMT2B2) ist eine axonale, periphere, sensomotorische CMT-Polyneuropathie."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2B2","definition":"La enfermedad de Charcot-Marie-Tooth, tipo 2B2 (CMT2B2, también referida como CMT4C3) es una polineuropatía motora y sensitiva periférica CMT axonal que ha sido descrita en una gran familia consanguínea de Costa Rica con ascendentes españoles."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 2B2","synonyms":["CMT4C3 assonale autosomica recessiva","Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 2B2"]},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2B2","synonyms":["AR-CMT2B2","Autosomaal recessieve axonale CMT4C3","Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2B2"],"definition":"Een perifere axonale sensomotorische polyneuropathie van Charcot-Marie-Tooth die werd beschreven bij een grote bloedverwante Costa-Ricaanse familie van Spaanse afkomst."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2B2","definition":"A doença de Charcot-Marie-Tooth, tipo 2B2 (CMT2B2, também referida como CMT4C3) é uma polineuropatia periférica sensitivomotora axonal."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2B2","synonyms":["AR-CMT2B2","Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2B2","Autosomalna recesywna aksonalna CMT4C3"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 2B2","synonyms":["AR-CMT2B2","Autozomálně recesivní axonální CMT4C3","Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2B2","Charcot-Marie-Toothova nemoc, typ 2B2","Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2B2"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2B2","synonyms":["AR-CMT2B2","Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2B2","Аутосомно-рецесивний аксональний CMT4C3"],"definition":"Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry."},"zh":{"name":"夏科-马里-图斯病2B2型","synonyms":["常染色体隐性遗传轴索性CMT2B2型"],"definition":"Charcot-Marie-Tooth病2B2型(CMT2B2，也被称为CMT4C3)是一种轴索性CMT周围感觉运动性多发性神经病，已在一个西班牙血缘的哥斯达黎加大家族中被描述。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tipi 2B2","synonyms":["AR-CMT2B2","Otozomal çekinik aksonal CMT4C3","Otozomal çekinik aksonal Charcot-Marie-Tooth hastalığı tip 2B2"]}},"xrefs":[{"source":"OMIM","code":"605589","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":"2009111705"},{"source":"MONDO","code":"0011570","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537991","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854150","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":"PNKP","name":"polynucleotide kinase 3'-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30039206[PMID]","hgnc":"9154","ensembl":"ENSG00000039650","omim":"605610","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11112660[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11112660[PMID]"}],"phenotypes":null}