{"Name":"Brugada syndrome","DiseaseID__c":"GARD:0001030","id":1030,"encodedName":"brugada-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brugada syndrome","Xref_IDs__c":"418818005; C1142166; C142891; D053840; DOID:0050451; MEDGEN:222975; MONDO:0015263; NBK1517; OMIMPS:601144; ORPHA:130","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015263","Disease_Description__c":"A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.","GARD_Name__c":"Brugada syndrome","GARD_Synonym__c":"bangungut; brugada type idiopathic ventricular fibrillation; dream disease; idiopathic ventricular fibrillation, brugada type; pokkuri death syndrome; right bundle branch block, st segment elevation, and sudden death syndrome; sudden unexpected nocturnal death syndrome; sudden unexplained death syndrome; sudden unexplained nocturnal death syndrome; sudden unexplained nocturnal death syndrome (sunds); sunds","Curated_Disease_Description_Source__c":"GARD:0001030","Curated_Disease_Description__c":"Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Child and as an Adult","SourceID__c":"ORPHA:130","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015263","ORPHANET_ID__c":"ORPHA:130","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de brugada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de brugada","Spanish_GARD_Synonym__c":"fibrilación ventricular tipo brugada","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":"Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder.","Curated_Disease_Description_Source__c":"GARD:0001030","GARD_Synonym__c":"bangungut; brugada type idiopathic ventricular fibrillation; dream disease; idiopathic ventricular fibrillation, brugada type; pokkuri death syndrome; right bundle branch block, st segment elevation, and sudden death syndrome; sudden unexpected nocturnal death syndrome; sudden unexplained death syndrome; sudden unexplained nocturnal death syndrome; sudden unexplained nocturnal death syndrome (sunds); sunds","Name":"Brugada syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"},{"Account_Name__c":"Syncope Trust and Reflex Anoxic Seizures","Website__c":"https://www.heartrhythmalliance.org/stars/uk"}],"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":"Adult","Provided_By__c":"ORPHA:130"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:130"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1142166"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001030","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1517","Source__c":"Gene Review","Xref__c":"NBK1517"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050451","Source__c":"MONDO:0015263","Xref__c":"DOID:0050451"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=222975","Source__c":"C1142166","Xref__c":"MEDGEN:222975"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=418818005","Source__c":"C1142166; MONDO:0015263","Xref__c":"418818005"},{"URL__c":"https://www.orpha.net/en/disease/detail/130","Source__c":"C1142166; MONDO:0015263; ORPHA:130","Xref__c":"ORPHA:130"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS601144","Source__c":"MONDO:0015263","Xref__c":"OMIMPS:601144"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053840","Source__c":"C1142166; MONDO:0015263","Xref__c":"D053840"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1142166","Source__c":"C1142166","Xref__c":"C1142166"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142891","Source__c":"C1142166; MONDO:0015263","Xref__c":"C142891"},{"URL__c":"https://medlineplus.gov/genetics/condition/brugada-syndrome","Source__c":"GARD:0001030","Xref__c":"https://medlineplus.gov/genetics/condition/brugada-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015263","Source__c":"GARD:0001030","Xref__c":"MONDO:0015263"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SEMA3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CACNA1C","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1c","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCN2B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCNN1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1a","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},{"GeneSymbol__c":"SLMAP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001663","HPO_Name__c":"Ventricular fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012251","HPO_Name__c":"ST segment elevation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011704","HPO_Synonym__c":"Sinoatrial node disease","HPO_Name__c":"Sick sinus syndrome","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Episodes of ventricular tachycardia that have a sudden onset and ending.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004751","HPO_Synonym__c":"Episodes of ventricular tachycardia","HPO_Name__c":"Paroxysmal ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011705","HPO_Name__c":"First degree atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abrupt loss of heart function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001695","HPO_Synonym__c":"Heart stops beating","HPO_Name__c":"Cardiac arrest","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal conduction in all three divisions of the intraventricular conducting tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011715","HPO_Name__c":"Trifascicular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004755","HPO_Synonym__c":"Supraventricular tachyarrhythmia; SVT","HPO_Name__c":"Supraventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["bangungut"," brugada type idiopathic ventricular fibrillation"," dream disease"," idiopathic ventricular fibrillation, brugada type"," pokkuri death syndrome"," right bundle branch block, st segment elevation, and sudden death syndrome"," sudden unexpected nocturnal death syndrome"," sudden unexplained death syndrome"," sudden unexplained nocturnal death syndrome"," sudden unexplained nocturnal death syndrome (sunds)"," sunds"]}