{"orpha":101097,"name":"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARCMT2K","Autosomal recessive axonal CMT4C4","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K"],"definition":"A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101097/","orphanet_url":"https://www.orpha.net/en/disease/detail/101097","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique récessive avec raucité de la voix","synonyms":["ARCMT2K","CMT4C4 axonale autosomique récessive","Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 2K"],"definition":"La maladie de Charcot-Marie-Tooth autosomique récessive avec raucité (ARCMT2K ou CMT4C4) est une forme axonale sévère et précoce de polyneuropathie sensitivo-motrice périphérique (CMT)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, mit Heiserkeit","synonyms":["ARCMT2K","CMT4C4","Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2K"],"definition":"Die autosomal-rezessive Charcot-Marie-Tooth-Krankheit mit Heiserkeit (ARCMT2K oder CMT4C4) ist eine schwere, frühbeginnende, axonale, periphere sensomotorische CMT-Polyneuropathie."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica recesiva con ronquera","synonyms":["AR-CMT con voz ronca"],"definition":"Es una forma grave de polineuropatía de CMT axonal sensitivo-motora de presentación precoz."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica recessiva con voce roca","synonyms":["ARCMT2K","CMT4C4 assonale autosomica recessiva","Malattia di Charcot-Marie-Tooth assonale autosomica recessiva, tipo 2K"]},"nl":{"name":"Autosomaal recessieve ziekte van Charcot-Marie-Tooth met heesheid","synonyms":["ARCMT2K","Autosomaal recessieve axonale CMT4C4","Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2K"],"definition":"Een ernstige, vroeg optredende vorm van axonale perifere sensorimotorische polyneuropathie van Charcot-Marie-Tooth (CMT)."},"pt":{"name":"Doença de Charcot-Marie-Tooth com rouquidão autossómica recessiva","definition":"A doença de Charcot-Marie-Tooth com rouquidão, autossómica recessiva (ARCMT2K ou CMT4C4) é uma forma de CMT grave de apresentação precoce de polineuropatia periférica sensitivomotora."},"pl":{"name":"Autosomalna recesywna choroba Charcota, Mariego i Tootha z chrypką","synonyms":["ARCMT2K","Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2K","Autosomalna recesywna aksonalna CMT4C4"]},"cs":{"name":"Autozomálně recesivní Charcotova-Marieova-Toothova nemoc s chrapotem","synonyms":["ARCMT2K","Autozomálně recesivní axonální CMT4C4","Autozomálně recesivní axonální Charcotova-Marieova-Toothova nemoc, typ 2K","Autozomálně recesivní Charcot-Marie-Toothova nemoc s chrapotem","Autozomálně recesivní axonální Charcot-Marie-Toothova nemoc, typ 2K"]},"uk":{"name":"Аутосомно-рецесивна хвороба Шарко-Марі-Тута з хрипотою","synonyms":["ARCMT2K","Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2К","Аутосомно-рецесивний аксональний CMT4C4"],"definition":"A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy."},"zh":{"name":"常染色体隐性遗传夏科-马里-图斯病伴声音嘶哑","synonyms":["常染色体隐性遗传轴索性CMT2K型"],"definition":"伴有声音嘶哑的常染色体隐性遗传性Charcot-Marie-Tooth病是一种严重的早发性轴索型CMT周围感觉运动性多发性神经病。"},"tr":{"name":"Ses kısıklığı ile seyreden otozomal resesif Charcot-Marie-Tooth hastalığı","synonyms":["ARCMT2K","Otozomal çekinik aksonal CMT4C4","Otozomal çekinik aksonal Charcot-Marie-Tooth hastalığı tipi 2K"]}},"xrefs":[{"source":"OMIM","code":"607706","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607831","qualifier":"BTNT","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":"2037351188"},{"source":"MONDO","code":"0011916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535418","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842983","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12448","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]}],"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 recessive"],"onset":["Infancy","Neonatal"],"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":"2021-11-16","source":"12821518[PMID]_28495047[PMID]","terms":[{"hpo":"HP:0003447","label":"Axonal loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007267","label":"Chronic axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007249","label":"Decreased number of small 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:0008959","label":"Distal upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000764","label":"Peripheral axonal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007233","label":"Clusters of axonal regeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006858","label":"Impaired distal proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031629","label":"Impaired tandem gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011727","label":"Peroneal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001604","label":"Vocal cord paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Excluded (0%)","criteria":null}]}}