{"Name":"Familial isolated arrhythmogenic right ventricular dysplasia","DiseaseID__c":"GARD:0017129","id":17129,"encodedName":"familial-isolated-arrhythmogenic-right-ventricular-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Familial isolated arrhythmogenic right ventricular dysplasia","Xref_IDs__c":"715865008; C4274968; MEDGEN:901869; MONDO:0016342; OMIMPS:107970; ORPHA:217656","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016342","Disease_Description__c":"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","GARD_Name__c":"Familial isolated arrhythmogenic right ventricular dysplasia","GARD_Synonym__c":"familial isolated arrhythmogenic right ventricular cardiomyopathy; familial isolated arrhythmogenic ventricular cardiomyopathy; familial isolated arrhythmogenic ventricular dysplasia; familial isolated arvc; familial isolated arvd; familial isolated arvd (arrhythmogenic right ventricular dysplasia)","Curated_Disease_Description_Source__c":"ORPHA:217656","Curated_Disease_Description__c":"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:217656","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016342","ORPHANET_ID__c":"ORPHA:217656","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía arritmogénica aislada hereditaria","Spanish_Description_Source__c":"ORPHA:217656","Spanish_Description__c":"La displasia arritmogénica familiar aislada del ventrículo derecho (ARVC) es la forma familiar autosómica dominante de la ARVC (ver este término), una enfermedad del músculo cardiaco caracterizada por arritmias ventriculares potencialmente mortales con configuración de bloqueo de rama izquierda, que se puede manifestar con palpitaciones, taquicardia ventricular, síncope y eventos súbitos letales, y que es causada por distrofia y reemplazo fibroadiposo del miocardio ventricular derecho que puede conducir a la formación de aneurismas ventriculares derechos.","Spanish_Disease_Name__c":"miocardiopatía arritmogénica aislada hereditaria","Spanish_GARD_Synonym__c":"cardiomiopatía arritmogénica aislada hereditaria","Category_Linearization__c":"ORPHA:97929","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.","Curated_Disease_Description_Source__c":"ORPHA:217656","GARD_Synonym__c":"familial isolated arrhythmogenic right ventricular cardiomyopathy; familial isolated arrhythmogenic ventricular cardiomyopathy; familial isolated arrhythmogenic ventricular dysplasia; familial isolated arvc; familial isolated arvd; familial isolated arvd (arrhythmogenic right ventricular dysplasia)","Name":"Familial isolated arrhythmogenic right ventricular dysplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:217656"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1131","Source__c":"Gene Review","Xref__c":"NBK1131"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715865008","Source__c":"C4274968; MONDO:0016342","Xref__c":"715865008"},{"URL__c":"https://www.orpha.net/en/disease/detail/217656","Source__c":"C4274968; MONDO:0016342; ORPHA:217656","Xref__c":"ORPHA:217656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=901869","Source__c":"C4274968","Xref__c":"MEDGEN:901869"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274968","Source__c":"C4274968","Xref__c":"C4274968"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS107970","Source__c":"MONDO:0016342","Xref__c":"OMIMPS:107970"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016342","Source__c":"GARD:0017129","Xref__c":"MONDO:0016342"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology"],"Account":["Cardiomyopathy"]},"synonyms":["familial isolated arrhythmogenic right ventricular cardiomyopathy"," familial isolated arrhythmogenic ventricular cardiomyopathy"," familial isolated arrhythmogenic ventricular dysplasia"," familial isolated arvc"," familial isolated arvd"," familial isolated arvd (arrhythmogenic right ventricular dysplasia)"]}