{"orpha":689021,"name":"Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Anoctamin-5-related myopathy pseudometabolic phenotype"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689021/","orphanet_url":"https://www.orpha.net/en/disease/detail/689021","names":{"fr":{"name":"Syndrome d'hyperCKémie asymptomatique-myalgie-rhabdomyolyse","synonyms":["Phénotype pseudo-métabolique de la myopathie liée à l'anoctamin-5"]},"de":{"name":"Asymptomatische HyperCKämie-Myalgie-Rhabdomyolyse-Syndrom","synonyms":["Anoctamin-5 assoziierte Myopathie bei pseudo-metabolischem Phänotyp"]},"es":{"name":"Síndrome de hiperCKemia-mialgia-rabdomiólisis asintomático","synonyms":["Fenotipo pseudometabólico de miopatía asociada a anoctamina-5"]},"it":{"name":"Sindrome asintomatica iperCKemia-mialgia-rabdomiolisi","synonyms":["Fenotipo pseudometabolico della miopatia correlata all'anoctamina-5"]},"nl":{"name":"Asymptomatische hyperCKemie - myalgie - rhabdomyolyse-syndroom","synonyms":["Anoctamine-5-gerelateerde myopathie pseudometabool fenotype"]},"pt":{"name":"Síndrome de hiperCKémia-mialgia-rabdomiólise assintomática","synonyms":["Fenótipo pseudometabólico miopático anoctamina-5-relacionado"]},"pl":{"name":"Zespół bezobjawowej hiper-CK-emii, mialgii i rabdomiolizy","synonyms":["Anoctamin-5-related myopathy pseudometabolic phenotype"]},"cs":{"name":"Syndrom zahrnující asymptomatickou hyperCKemii, myalgii, rabdomyolýzu","synonyms":["Anoctamin-5-related myopathy pseudometabolic phenotype"]}},"xrefs":[{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"975918","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ANO5","name":"anoctamin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28187523[PMID]","hgnc":"27337","ensembl":"ENSG00000171714","omim":"608662","loci":["11p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}