{"orpha":293888,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ALVC","Arrhythmogenic cardiomyopathy dominant-left variant","Arrhythmogenic cardiomyopathy with left ventricular involvement","Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form"],"definition":null,"note":"This disease is described under Inherited isolated arrhythmogenic cardiomyopathy","url":"https://raremap.alftech.space/d/ORPHA-293888/","orphanet_url":"https://www.orpha.net/en/disease/detail/293888","names":{"fr":{"name":"Cardiomyopathie arythmogène héréditaire isolée, variante gauche-dominante","synonyms":["Cardiomyopathie ventriculaire arythmogène familiale isolée avec prédominace à gauche","Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à gauche","ALVC"]},"de":{"name":"Hereditäre isolierte arrhythmogene Kardiomyopathie, linksdominante Form","synonyms":["ALVC","Arrhythmogene Kardiomyopathie mit linksventrikulärer Beteiligung","Arrhythmogene Kardiomyopathie, linksdominante Form","Arrhythmogene linksventrikuläre Kardiomyopathie","Familiäre isolierte arrhythmogene ventrikuläre Dysplasie, linksdominante Form"]},"es":{"name":"Miocardiopatía arritmogénica aislada hereditaria, variante con predominio izquierdo","synonyms":["ALVC","Cardiomiopatía arritmogénica aislada hereditaria, variante con predominio izquierdo","Displasia ventricular arritmogénica aislada familiar, forma con predominio izquierdo","Miocardiopatía arritmogénica con afectación del ventrículo izquierdo","Miocardiopatía arritmogénica variante con predominio izquierdo"]},"it":{"name":"Cardiomiopatia aritmogena isolata familiare con predominanza a sinistra","synonyms":["ALVC","Cardiomiopatia aritmogena con interessamento del ventricolo sinistro","Displasia ventricolare aritmogena isolata familiare, forma con predominanza a sinistra","Variante della cardiomiopatia aritmogena con predominanza a sinistra"]},"nl":{"name":"Erfelijke geïsoleerde aritmogene cardiomyopathie, links-dominante vorm","synonyms":["ALVC","Aritmogene cardiomyopathie met betrokkenheid van linkerventrikel","Aritmogene cardiomyopathie, links-dominante variant","Familiale geïsoleerde aritmogene ventrikeldysplasie, links-dominante vorm"]},"pt":{"name":"Cardiomiopatia arritmogénica isolada hereditária, com predomínio à esquerda","synonyms":["ALVC","Cardiomiopatia arritmogénica com envolvimento ventricular esquerdo","Cardiomiopatia arritmogénica variante com predomínio à esquerda","Displasia ventricular arritmogénica isolada familiar, com predomínio à esquerda","Displasia ventricular arritmogénica isolada familiar, forma biventricular"]},"pl":{"name":"Rodzinna izolowana arytmogenna dysplazja komorowa, postać lewa dominująca","synonyms":["Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać lewa dominująca","Wrodzona izolowana kardiomiopatia arytmogenna, wariant z dominującą lewą stroną","Dziedziczna izolowana kardiomiopatia arytmogenna, wariant dominujący lewokomorowy"]},"cs":{"name":"Familiární izolovaná arytmogenní dysplázie s převahou levé komory","synonyms":["Familiární izolovaná arytmogenní kardiomyopatie levé komory"]},"uk":{"name":"Спадкова ізольована аритмогенна кардіоміопатія, домінантно-лівий варіант","synonyms":["ALVC","Аритмогенна кардіоміопатія з домінуванням лівого шлуночка","Аритмогенна кардіоміопатія з ураженням лівого шлуночка","Сімейна ізольована аритмогенна дисплазія шлуночків, ліводомінантна форма"]},"zh":{"name":"左心型家族性孤立性心律失常性心室发育不良","synonyms":["左心型家族性孤立性心律失常性室性心肌病"]},"tr":{"name":"Ailesel izole aritmojenik ventriküler displazi, sol dominant form","synonyms":["Ailesel izole aritmojenik ventriküler kardiyomiyopati, sol baskın form"]}},"xrefs":[{"source":"OMIM","code":"107970","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610193","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925017","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217656,"name":"Inherited isolated arrhythmogenic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"TMEM43","name":"transmembrane protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301310[PMID]","hgnc":"28472","ensembl":"ENSG00000170876","omim":"612048","loci":["3p25.1"]},{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21810661[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]},{"symbol":"CTNNA3","name":"catenin alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23136403[PMID]","hgnc":"2511","ensembl":"ENSG00000183230","omim":"607667","loci":["10q21.3"]},{"symbol":"DSC2","name":"desmocollin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"3036","ensembl":"ENSG00000134755","omim":"125645","loci":["18q12.1"]},{"symbol":"DSG2","name":"desmoglein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"3049","ensembl":"ENSG00000046604","omim":"125671","loci":["18q12.1"]},{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]},{"symbol":"JUP","name":"junction plakoglobin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"6207","ensembl":"ENSG00000173801","omim":"173325","loci":["17q21.2"]},{"symbol":"LDB3","name":"LIM domain binding 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25041374[PMID]","hgnc":"15710","ensembl":"ENSG00000122367","omim":"605906","loci":["10q23.2"]},{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":"23736219[PMID]_22199124[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]},{"symbol":"PKP2","name":"plakophilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"9024","ensembl":"ENSG00000057294","omim":"602861","loci":["12p11.21"]},{"symbol":"TGFB3","name":"transforming growth factor beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301310[PMID]","hgnc":"11769","ensembl":"ENSG00000119699","omim":"190230","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}