{"orpha":99942,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2I"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99942/","orphanet_url":"https://www.orpha.net/en/disease/detail/99942","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2I","synonyms":["CMT2I"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2I (CMT2I) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale, caractérisée par une apparition tardive avec une perte de sensibilité sévère (paresthésie et hypoesthésie) associée à une faiblesse musculaire distale affectant principalement les jambes, ainsi que des réflexes tendineux profonds diminués ou absents."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2I","synonyms":["CMT2I"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2I (CMT2I) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Sie ist gekennzeichnet durch den späten Beginn eines schweren Sensibilitätsverlustes (Parästhesie, Hypästhesie) in Verbindung mit distaler Muskelschwäche vor allem der Beine und ausgelöschten oder abgeschwächten tiefen Sehnenreflexen."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2I","definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada por una aparición tardía con pérdida sensitiva grave (parestesia e hipostesia) asociada con debilidad distal, principalmente en las extremiddaes inferiores, y ausencia o reducción de los reflejos osteotendinosos."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2I","synonyms":["CMT2I"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2I (CMT2I) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica, caratterizzata da una grave perdita sensoriale a esordio tardivo (parestesia e ipoestesia) associata a debolezza distale, in particolare, a livello delle gambe, e assenza o diminuzione dei riflessi tendinei profondi."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2I","synonyms":["CMT2I"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door een late aanvang van ernstig zintuiglijk verlies (paresthesie en hypo-esthesie) geassocieerd met distale zwakte, vooral van de benen, en afwezige of verminderde diepe peesreflexen."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2I"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2I","synonyms":["CMT2I"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2I","synonyms":["CMT2I","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2I"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2I","synonyms":["CMT2I"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2I型","synonyms":["CMT2I"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2I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，疾病特征有起病晚，伴有严重的感觉丧失(感觉异常和感觉减退)和远端无力，主要是腿部无力，深部肌腱反射缺失或减少。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2I","synonyms":["CMT2I"]}},"xrefs":[{"source":"OMIM","code":"607677","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":"1858507973"},{"source":"MONDO","code":"0011889","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535416","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888087","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":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"14638973[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"14638973[PMID]_ORPHANET"}],"phenotypes":null}