{"orpha":727296,"name":"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIAO1-related myopathy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727296/","orphanet_url":"https://www.orpha.net/en/disease/detail/727296","names":{"fr":{"name":"Syndrome de faiblesse musculaire progressive-insuffisance respiratoire-difficulté d'apprentissage","synonyms":["Myopathie associée à CIAO1"]},"de":{"name":"Progressive Muskelschwäche-Ateminsuffizienz-Lernschwierigkeiten-Syndrom","synonyms":["CIAO1-assoziierte Myopathie"]},"es":{"name":"Síndrome de debilidad muscular progresiva-insuficiencia respiratoria-dificultad de aprendizaje","synonyms":["Miopatía asociada al gen CIAO1"]},"it":{"name":"Sindrome debolezza muscolare progressiva-insufficienza respiratoria-difficoltà di apprendimento","synonyms":["Miopatia correlata a CIAO1"]},"nl":{"name":"Progressieve spierzwakte - respiratoire insufficiëntie - leerprobleem-syndroom","synonyms":["CIAO1-gerelateerde myopathie"]},"pt":{"name":"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome"},"pl":{"name":"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome","synonyms":["CIAO1-related myopathy"]},"cs":{"name":"Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome","synonyms":["CIAO1-related myopathy"]}},"xrefs":[{"source":"OMIM","code":"620960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":206634,"name":"Genetic skeletal muscle disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CIAO1","name":"cytosolic iron-sulfur assembly component 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38950322[PMID]","hgnc":"14280","ensembl":"ENSG00000144021","omim":"604333","loci":["2q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}