{"orpha":101081,"name":"Charcot-Marie-Tooth disease type 1A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT1A","Microduplication 17p12"],"definition":null,"note":"This disease is described under Charcot-Marie-Tooth disease type 1","url":"https://raremap.alftech.space/d/ORPHA-101081/","orphanet_url":"https://www.orpha.net/en/disease/detail/101081","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1A","synonyms":["CMT1A","Microduplication 17p12"]},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 1A","synonyms":["CMT1A","Mikroduplikation 17p12"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1A","synonyms":["CMT1A","Microduplicación 17p12"]},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 1A","synonyms":["Microduplicazione 17p12"]},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 1A","synonyms":["CMT1A","Microduplicatie 17p12"]},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 1A"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1A","synonyms":["CMT1A","Mikroduplikacja 17p12"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 1A","synonyms":["CMT1A","Mikroduplikace 17p12","Charcot-Marie-Toothova nemoc, typ 1A"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1А","synonyms":["CMT1A","Мікродуплікація 17p12"]},"zh":{"name":"夏科-马里-图斯病1A型","synonyms":["17p12微重复"]},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 1A","synonyms":["CMT1A","Mikroduplikasyon 17p12"]}},"xrefs":[{"source":"OMIM","code":"118220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"307487830"},{"source":"MONDO","code":"0007309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270911","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1245","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":65753,"name":"Charcot-Marie-Tooth disease type 1","classifications":[156,181]},{"orpha":262803,"name":"Partial duplication of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"PMP22","name":"peripheral myelin protein 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301384[PMID]","hgnc":"9118","ensembl":"ENSG00000109099","omim":"601097","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":82.37,"area":"Norway","status":"Validated","source":"20482598[PMID]_24646194[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.2,"area":"United Kingdom","status":"Validated","source":"21984771[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301384[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-08","source":"8682501[PMID]_17353481[PMID]_15703022[PMID]_20301532[PMID]","terms":[{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003448","label":"Decreased sensory nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","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:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010871","label":"Sensory ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007131","label":"Acute demyelinating polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009113","label":"Diaphragmatic weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030834","label":"Shoulder pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010833","label":"Spontaneous pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Very rare (<4-1%)","criteria":null}]}}