{"orpha":254334,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RI-CMT type B"],"definition":"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254334/","orphanet_url":"https://www.orpha.net/en/disease/detail/254334","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B","synonyms":["RI-CMT type B"],"definition":"Sous-type rare de la maladie de Charcot-Marie-Tooth (CMT) intermédiaire autosomique récessive caractérisée par une neuropathie CMT associée à un retard de développement, un comportement auto-agressif, des caractéristiques dysmorphiques et un schwannome vestibulaire. Les vitesses de conduction du nerf moteur présentent des caractéristiques de lésions démyélinisantes et axonales."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ B","synonyms":["RI-CMT Typ B"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo B","synonyms":["RI-CMT tipo B"],"definition":"Es un subtipo muy poco frecuente de la enfermedad de Charcot-Marie-Tooth (CMT) intermedia autosómica recesiva caracterizada por retraso psicomotor, conducta autolesiva, características dismórficas y schwannoma vestibular. Las velocidades de conducción nerviosa motora muestran características tanto de patología desmielinizante como axonal."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo B","synonyms":["RI-CMT, tipo B"],"definition":"La malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo B è un sottotipo molto raro della malattia di Charcot-Marie-Tooth (CMT) autosomica recessiva intermedia, caratterizzata da neuropatia associata a ritardo dello sviluppo, autolesionismo, dismorfismi e schwannomi vestibolari. Le velocità di conduzione dei nervi sono indicative di una malattia demielinizzante ed assonale."},"nl":{"name":"Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type B","synonyms":["RI-CMT type B"],"definition":"Een uiterst zeldzaam subtype van autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth (CMT), gekarakteriseerd door een CMT-neuropathie geassocieerd met ontwikkelingsachterstand, zelfbeschadiging, dysmorfe kenmerken en vestibulair schwannoom. Motorische zenuwgeleidingssnelheden vertonen kenmerken van zowel demyeliniserende als axonale pathologie."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo B","synonyms":["RI-CMT type B"]},"pl":{"name":"Autosomalna recesywna choroba Charcota, Mariego i Tootha typu B","synonyms":["RI-CMT type B"],"definition":"*Autosomalna recesywna choroba Charcota, Mariego i Tootha typu B jest niezwykle rzadkim podtypem autosomalnej recesywnej polineuropatii Charcota, Mariego i Tootha (CMT). Charakteryzuje się neuropatią, opóźnieniem rozwoju, zachowaniami autoagresyjnymi, cechami dysmorficznymi oraz występowaniem nerwiaka osłonkowego nerwu przedsionkowego. Prędkości przewodzenia we włóknach ruchowych nerwów wskazują na uszkodzenie demielinizacyjno-aksonalne."},"cs":{"name":"Autozomálně recesivní středně pokročilá Charcotova-Marieova-Toothova nemoc, typ B","synonyms":["RI-CMT typ B","Autozomálně recesivní středně pokročilá Charcot-Marie-Toothova nemoc, typ B"]},"uk":{"name":"Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип В","synonyms":["RI-CMT тип B"],"definition":"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology."},"zh":{"name":"常染色体隐性遗传性中间型腓骨肌萎缩症B型","synonyms":["RI-CMT B型"],"definition":"常染色体隐性遗传性中间Charcot-Marie-Tooth(CMT)病的一种极为罕见的亚型，是以发育迟缓、自虐行为、畸形特征和前庭神经鞘瘤等特征相关的CMT神经病。运动神经传导速度表现为脱髓鞘和轴突病理特征。"},"tr":{"name":"Otozomal resesif geçişli Charcot-Marie-Tooth hastalığı tip B","synonyms":["RI-CMT B tipi"]}},"xrefs":[{"source":"OMIM","code":"613641","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"945627124"},{"source":"MONDO","code":"0013338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750786","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":268337,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KARS1","name":"lysyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20920668[PMID]","hgnc":"6215","ensembl":"ENSG00000065427","omim":"601421","loci":["16q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"20920668[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20920668[PMID]"}],"phenotypes":null}