{"orpha":99946,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2A1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2A1"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99946/","orphanet_url":"https://www.orpha.net/en/disease/detail/99946","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2A1","synonyms":["CMT2A1"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2A1 (CMT2A1) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale. La CMT2A1 se manifeste par une faiblesse musculaire plus proéminente dans les membres inférieurs que supérieurs, et par un tremblement postural fréquent."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A1","synonyms":["CMT2A1"],"definition":"Die autosomal dominante Charcot-Marie-Tooth-Krankheit Typ 2A1 (CMT2A1) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren sensorisch-motorischen Neuropathie. Die CMT2A manifestiert sich mit Muskelschwäche (in den unteren Gliedmassen stärker ausgeprägt als in den oberen Gliedmassen) und häufigem Haltungstremor."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2A1","definition":"Es una forma axonal de la enfermedad de Charcot-Marie-Tooth, una neuropatía periférica sensitiva y motora que se presenta con debilidad muscular, más prominente en los miembros inferiores que en los superiores, y un frecuente temblor postural."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2A1","synonyms":["CMT2A1"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2A1 (CMT2A1) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica. La CMT2A si manifesta con debolezza muscolare, più marcata agli arti inferiori rispetto a quelli superiori, e tremore posturale frequente."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2A1","synonyms":["CMT2A1"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door spierzwakte die meer uitgesproken is in onderste dan in bovenste ledematen en door frequente posturale tremor."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2A1"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2A1","synonyms":["CMT2A1"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2A1","synonyms":["CMT2A1","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2A1"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2А1","synonyms":["CMT2A1"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2A1型","synonyms":["CMT2A1"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2A1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，表现为下肢比上肢更明显的肌肉无力和频繁的姿势震颤。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2A1","synonyms":["CMT2A1"]}},"xrefs":[{"source":"OMIM","code":"118210","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":"2087067372"},{"source":"MONDO","code":"0007308","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861678","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1248","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":"KIF1B","name":"kinesin family member 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11389829[PMID]_20301462[PMID]","hgnc":"16636","ensembl":"ENSG00000054523","omim":"605995","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"9409358[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9409358[PMID]"}],"phenotypes":null}