{"orpha":98856,"name":"Charcot-Marie-Tooth disease type 2B1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-CMT2B1","Autosomal recessive Charcot-Marie-Tooth disease type 2B1","Autosomal recessive axonal CMT4C1"],"definition":"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98856/","orphanet_url":"https://www.orpha.net/en/disease/detail/98856","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2B1","synonyms":["Maladie de Charcot-Marie-Tooth autosomique récessive type 2B1","AR-CMT2B1","CMT4C1 axonale autosomique récessive"],"definition":"La maladie de Charcot-Marie-Tooth type 2B1 (CMT2B1) est une forme axonale de polyneuropathie sensitivo-motrice périphérique (CMT)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2B1","synonyms":["CMT2B1","Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2B1"],"definition":"Der Typ 2B1 der Charcot-Marie-Tooth-Krankheit (CMT2B1) ist eine axonale, periphere, sensomotorische CMT-Polyneuropathie."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2B1","definition":"La enfermedad de Charcot-Marie-Tooth, tipo 2B1 (CMT2B1, también referida como CMT4C1) es una polineuropatía motora y sensitiva periférica CMT axonal."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 2B1","synonyms":["AR-CMT2B1","CMT4C1 assonale autosomica recessiva","Malattia di Charcot-Marie-Tooth autosomica recessiva, tipo 2B1"]},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2B1","synonyms":["AR-CMT2B1","Autosomaal recessieve axonale CMT4C1","Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B1"],"definition":"Een axonale perifere sensorimotorische polyneuropathie van Charcot-Marie-Tooth (CMT)."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2B1","definition":"A doença de Charcot-Marie-Tooth, tipo 2B1 (CMT2B1, também denominada como CMT4C1) é uma polineuropatia periférica sensitivomotora axonal."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2B1","synonyms":["AR-CMT2B1","Autosomalna recesywna aksonalna CMT4C1","Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2B1"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 2B1","synonyms":["AR-CMT2B1","Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, typ 2B1","Autozomálně recesivní axonální CMT4C1","Charcot-Marie-Toothova nemoc, typ 2B1","Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2B1"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2B1","synonyms":["AR-CMT2B1","Аутосомно-рецесивний аксональний CMT4C1","Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип 2B1"],"definition":"Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy."},"zh":{"name":"腓骨肌萎缩症2B1型","synonyms":["常染色体隐性遗传Charcot-Marie-Tooth病2B1型"],"definition":"Charcot-Marie-Tooth综合征2B1型(CMT2B1，又称CMT4C1)是一种轴索性CMT周围感觉运动性多发性神经病。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tipi 2B1","synonyms":["AR-CMT2B1","Otozomal çekinik aksonal CMT4C1","Otozomal çekinik Charcot-Marie-Tooth hastalığı tip 2B1"]}},"xrefs":[{"source":"OMIM","code":"605588","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":"957134152"},{"source":"MONDO","code":"0011569","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854154","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]},{"orpha":300758,"name":"Laminopathy with peripheral neuropathy","classifications":[156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-21","source":"23781959[PMID]_22575637[PMID]_29478606[PMID]_21504497[PMID]","terms":[{"hpo":"HP:0040078","label":"Axonal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003447","label":"Axonal loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007078","label":"Decreased amplitude of sensory action potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003482","label":"EMG: axonal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003387","label":"Decreased number of large peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008956","label":"Proximal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011916","label":"Toe extensor amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007249","label":"Decreased number of small peripheral myelinated nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008988","label":"Pelvic girdle muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003724","label":"Shoulder girdle muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007233","label":"Clusters of axonal regeneration","frequency":"Excluded (0%)","criteria":null}]}}