{"orpha":293910,"name":"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Arrhythmogenic cardiomyopathy dominant-right variant","Arrhythmogenic cardiomyopathy with right ventricular involvement","Familial isolated arrhytmogenic ventricular dysplasia, right dominant form"],"definition":null,"note":"This disease is described under Inherited isolated arrhythmogenic cardiomyopathy","url":"https://raremap.alftech.space/d/ORPHA-293910/","orphanet_url":"https://www.orpha.net/en/disease/detail/293910","names":{"fr":{"name":"Cardiomyopathie arythmogène héréditaire isolée, variante droite-dominante","synonyms":["Cardiomyopathie ventriculaire droite arythmogène familiale","Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à droite,"]},"de":{"name":"Hereditäre isolierte arrhythmogene Kardiomyopathie, rechtsdominante Form","synonyms":["Arrhythmogene rechtsventrikuläre Kardiomyopathie","Familiäre isolierte arrhythmogene ventrikuläre Dysplasie, rechtsdominante Form","Arrhythmogene Kardiomyopathie mit rechtsventrikulärer Beteiligung"]},"es":{"name":"Miocardiopatía arritmogénica aislada hereditaria, variante de predominio derecho","synonyms":["Cardiomiopatía arritmogénica aislada hereditaria, variante de predominio derecho","Displasia ventricular arritmogénica aislada familiar, forma de predominio derecho","Miocardiopatía arritmogénica con afectación del ventrículo derecho","Miocardiopatía arritmogénica variante de predominio derecho"]},"it":{"name":"Cardiomiopatia aritmogena isolata ereditaria con predominanza a destra","synonyms":["Displasia ventricolare aritmogena isolata familiare con predominanza a destra"]},"nl":{"name":"Erfelijke geïsoleerde aritmogene cardiomyopathie, rechts-dominante variant","synonyms":["Aritmogene cardiomyopathie met betrokkenheid van rechter ventrikel","Aritmogene cardiomyopathie, rechts-dominante variant","Familiale geïsoleerde aritmogene ventrikeldysplasie, rechts-dominante vorm"]},"pt":{"name":"Cardiomiopatia arritmogénica isolada hereditária, variante dominante à direita","synonyms":["Cardiomiopatia arritmogénica com envolvimento do ventrículo direito","Displasia ventricular arritmogénica familiar isolada, forma dominante direita","Variante dominante direita da cardiomiopatia arritmogénica"]},"pl":{"name":"Rodzinna izolowana arytmogenna dysplazja komorowa, postać prawa dominująca","synonyms":["Rodzinna izolowana arytmogenna dysplazja komorowa, postać klasyczna","Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać klasyczna","Rodzinna izolowana arytmogenna kardiomiopatia komorowa, postać prawa dominująca","Wrodzona izolowana kardiomiopatia arytmogenna, wariant z dominującą prawą stroną","Dziedziczna izolowana kardiomiopatia arytmogenna, wariant dominujący prawokomorowy"]},"cs":{"name":"Familiární izolovaná arytmogenní dysplázie s převahou pravé komory","synonyms":["Familiární izolovaná arytmogenní komorová kardiomyopatie, klasická forma","Familiární izolovaná arytmogenní komorová kardiomyopatie, pravá dominantní forma","Familiární izolovaná arytmogenní komorová dysplázie, klasická forma"]},"uk":{"name":"Спадкова ізольована аритмогенна кардіоміопатія, домінантно-правий варіант","synonyms":["Сімейна ізольована аритмогенна дисплазія шлуночків, праводомінантна форма"]},"zh":{"name":"右心型家族性单纯性致心律失常性心室发育不良","synonyms":["右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, sağ dominant form","synonyms":["Ailesel izole aritmojenik ventriküler displazi, klasik form","Ailesel izole aritmojenik ventriküler kardiyomiyopati, klasik form","Ailesel izole aritmojenik ventriküler kardiyomiyopati, sağ 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":"OMIM","code":"615616","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617047","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618920","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":"0017403","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925015","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":"CDH2","name":"cadherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28280076[PMID]","hgnc":"1759","ensembl":"ENSG00000170558","omim":"114020","loci":["18q12.1"]},{"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":"FLNC","name":"filamin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31924696[PMID]","hgnc":"3756","ensembl":"ENSG00000128591","omim":"102565","loci":["7q32.1"]},{"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":"PLN","name":"phospholamban","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25820315[PMID]","hgnc":"9080","ensembl":"ENSG00000198523","omim":"172405","loci":["6q22.31"]},{"symbol":"TAX1BP3","name":"Tax1 binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39963794[PMID]","hgnc":"30684","ensembl":null,"omim":null,"loci":["17p13.2"]},{"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"]},{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21810661[PMID]","hgnc":"12403","ensembl":"ENSG00000155657","omim":"188840","loci":["2q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}