{"orpha":723139,"name":"Multifocal ectopic Purkinje-related premature contraction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MEPPC"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-723139/","orphanet_url":"https://www.orpha.net/en/disease/detail/723139","names":{"fr":{"name":"Contraction prématurée multifocale ectopique dépendante de Purkinje","synonyms":["MEPPC"]},"de":{"name":"Multifokale ektopische Purkinje-vermittelte ventrikuläre Extrasystolen","synonyms":["MEPPC-Syndrom"]},"es":{"name":"Contracción prematura multifocal ectópica asociada a Purkinje","synonyms":["MEPPC"]},"it":{"name":"Contrazione prematura multifocale ectopica correlata alle cellule di Purkinje","synonyms":["MEPPC"]},"nl":{"name":"Multifocale ectopische Purkinje-gerelateerde premature contractie","synonyms":["MEPPC"]},"pt":{"name":"Multifocal ectopic Purkinje-related premature contraction"},"pl":{"name":"Multifocal ectopic Purkinje-related premature contraction","synonyms":["MEPPC"]},"cs":{"name":"Multifocal ectopic Purkinje-related premature contraction","synonyms":["MEPPC"]}},"xrefs":[{"source":"OMIM","code":"601154","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22766342[PMID]_37600057[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"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}