{"Name":"Paroxysmal familial ventricular fibrillation","DiseaseID__c":"GARD:0004227","id":4227,"encodedName":"paroxysmal-familial-ventricular-fibrillation","IsDeleted":false,"Disease_Name_Full__c":"Paroxysmal familial ventricular fibrillation","Xref_IDs__c":"233915000; C0340493; MEDGEN:83310; MONDO:0100234; ORPHA:228140","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0100234","Disease_Description__c":"A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","GARD_Name__c":"Paroxysmal familial ventricular fibrillation","GARD_Synonym__c":"familial paroxysmal ventricular fibrillation, non brugada type; idiopathic ventricular fibrillation; idiopathic ventricular fibrillation, non brugada type; ivf; paroxysmal familial ventricular fibrillation (disorder); paroxysmal ventricular fibrillation; ventricular fibrillation, paroxysmal familial","Curated_Disease_Description_Source__c":"MONDO:0100234","Curated_Disease_Description__c":"A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:228140","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100234","ORPHANET_ID__c":"ORPHA:228140","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrilación ventricular idiopática","Spanish_Description_Source__c":"ORPHA:228140","Spanish_Description__c":"Es una enfermedad del ritmo cardíaco, de origen genético y poco frecuente, caracterizada por fibrilación ventricular en ausencia de cualquier otra cardiopatía estructural o funcional, o de alteraciones conocidas de la repolarización. La presencia de ondas J en el electrocardiograma se asocia a un mayor riesgo de episodios de fibrilación ventricular nocturna y a un mayor riesgo de recurrencia.","Spanish_Disease_Name__c":"fibrilación ventricular idiopática","Spanish_GARD_Synonym__c":null,"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":"A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","Curated_Disease_Description_Source__c":"MONDO:0100234","GARD_Synonym__c":"familial paroxysmal ventricular fibrillation, non brugada type; idiopathic ventricular fibrillation; idiopathic ventricular fibrillation, non brugada type; ivf; paroxysmal familial ventricular fibrillation (disorder); paroxysmal ventricular fibrillation; ventricular fibrillation, paroxysmal familial","Name":"Paroxysmal familial ventricular fibrillation","estimateUsa":""}],"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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:228140"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2751898"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004227","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340493","Source__c":"C0340493","Xref__c":"C0340493"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83310","Source__c":"C0340493","Xref__c":"MEDGEN:83310"},{"URL__c":"https://www.orpha.net/en/disease/detail/228140","Source__c":"C0340493; MONDO:0100234","Xref__c":"ORPHA:228140"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100234","Source__c":"GARD:0004227","Xref__c":"MONDO:0100234"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233915000","Source__c":"C0340493","Xref__c":"233915000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DPP6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCN5A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn5a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["familial paroxysmal ventricular fibrillation, non brugada type"," idiopathic ventricular fibrillation"," idiopathic ventricular fibrillation, non brugada type"," ivf"," paroxysmal familial ventricular fibrillation (disorder)"," paroxysmal ventricular fibrillation"," ventricular fibrillation, paroxysmal familial"]}