{"orpha":99944,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2K","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2K"],"definition":"An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99944/","orphanet_url":"https://www.orpha.net/en/disease/detail/99944","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2K","synonyms":["CMT2K"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2K (CMT2K) est une forme axonale de polyneuropathie sensitivo-motrice périphérique (CMT)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2K","synonyms":["CMT2K"],"definition":"Der autosomal-dominante Typ 2K der Charcot-Marie-Tooth-Krankheit (CMT2K) ist eine axonale, periphere, sensomotorische CMT-Polyneuropathie."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2K","definition":"Es una polineuropatía de CMT sensitivo-motora axonal periférica."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2K","synonyms":["CMT2K"]},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2K","synonyms":["CMT2K"],"definition":"Een axonale perifere sensorimotorische polyneuropathie van Charcot-Marie-Tooth (CMT)."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2K","definition":"A doença de Charcot-Marie-Tooth, tipo 2K, autossómica dominante (CMT2K) é uma polineuropatia axonal periférica sensitivomotora."},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2K","synonyms":["CMT2K"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2K","synonyms":["CMT2K","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2K"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2К","synonyms":["CMT2K"],"definition":"An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2K型","synonyms":["CMT2K"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2K型是轴索性Charcot-Marie-Tooth(CMT)周围感觉运动性多发性神经病。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2K","synonyms":["CMT2K"]}},"xrefs":[{"source":"OMIM","code":"607831","qualifier":"NTBT","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":"1720211658"},{"source":"MONDO","code":"0020558","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842984","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":"GDAP1","name":"ganglioside induced differentiation associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"15968","ensembl":"ENSG00000104381","omim":"606598","loci":["8q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"18231710[PMID]_19089472[PMID]_20685671[PMID]_21753178[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18231710[PMID]_19089472[PMID]_20685671[PMID]_21753178[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-04","source":"18231710[PMID]_21753178[PMID]","terms":[{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null}]}}