{"Name":"Brugada syndrome 3","DiseaseID__c":"GARD:0010361","id":10361,"encodedName":"brugada-syndrome-3","IsDeleted":false,"Disease_Name_Full__c":"Brugada syndrome 3","Xref_IDs__c":"C2678478; C567509; DOID:0110220; MEDGEN:395633; MONDO:0012742; OMIM:611875","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012742","Disease_Description__c":"Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.","GARD_Name__c":"Brugada syndrome 3","GARD_Synonym__c":"brgda3; brugada syndrome caused by mutation in cacna1c; brugada syndrome type 3; cacna1c brugada syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C2678478","Curated_Disease_Description__c":"Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:611875","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012742","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.","Curated_Disease_Description_Source__c":"MEDGEN:C2678478","GARD_Synonym__c":"brgda3; brugada syndrome caused by mutation in cacna1c; brugada syndrome type 3; cacna1c brugada syndrome","Name":"Brugada syndrome 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"},{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2678478"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010361","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1403","Source__c":"Gene Review","Xref__c":"NBK1403"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1517","Source__c":"Gene Review","Xref__c":"NBK1517"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395633","Source__c":"C2678478","Xref__c":"MEDGEN:395633"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678478","Source__c":"C2678478","Xref__c":"C2678478"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567509","Source__c":"MONDO:0012742","Xref__c":"C567509"},{"URL__c":"https://www.omim.org/entry/611875","Source__c":"C2678478; MONDO:0012742","Xref__c":"OMIM:611875"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110220","Source__c":"MONDO:0012742","Xref__c":"DOID:0110220"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012742","Source__c":"GARD:0010361","Xref__c":"MONDO:0012742"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CACNA1C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611875","Feature__r":{"HPO_Description__c":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005110","HPO_Synonym__c":"Quivering upper heart chambers resulting in irregular heartbeat","HPO_Name__c":"Atrial fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611875","Feature__r":{"HPO_Description__c":"The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012272","HPO_Synonym__c":"EKG J waves; Osborne waves","HPO_Name__c":"J wave","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:611875","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004308","HPO_Synonym__c":"Ventricular arrhythmias","HPO_Name__c":"Ventricular arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611875","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611875","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611875","Feature__r":{"HPO_Description__c":"Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012232","HPO_Name__c":"Shortened QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}}],"tags":{"Specialist":["Clinical Cardiac Electrophysiology"]},"synonyms":["brgda3"," brugada syndrome caused by mutation in cacna1c"," brugada syndrome type 3"," cacna1c brugada syndrome"]}