{"Name":"Familial atrial fibrillation","DiseaseID__c":"GARD:0009740","id":9740,"encodedName":"familial-atrial-fibrillation","IsDeleted":false,"Disease_Name_Full__c":"Familial atrial fibrillation","Xref_IDs__c":"715395008; C3468561; DOID:0050650; MEDGEN:894635; MONDO:0018054; OMIMPS:608583; ORPHA:334","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018054","Disease_Description__c":"An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.","GARD_Name__c":"Familial atrial fibrillation","GARD_Synonym__c":"atfb; hereditary atrial fibrillation (disease)","Curated_Disease_Description_Source__c":"GARD:0009740","Curated_Disease_Description__c":"Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. The disease also causes an increased risk of stroke.. While complications may occur at any age, some people never have associated health problems. Familial atrial fibrillation may be caused by changes in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018054","ORPHANET_ID__c":"ORPHA:334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrilación auricular hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fibrilación auricular hereditaria","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":"Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. The disease also causes an increased risk of stroke.. While complications may occur at any age, some people never have associated health problems. Familial atrial fibrillation may be caused by changes in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.","Curated_Disease_Description_Source__c":"GARD:0009740","GARD_Synonym__c":"atfb; hereditary atrial fibrillation (disease)","Name":"Familial atrial fibrillation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Team Titin","Website__c":"https://titinmyopathy.com/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:334"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:334"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843687"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009740","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS608583","Source__c":"MONDO:0018054","Xref__c":"OMIMPS:608583"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715395008","Source__c":"C3468561; MONDO:0018054","Xref__c":"715395008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3468561","Source__c":"C3468561","Xref__c":"C3468561"},{"URL__c":"https://www.orpha.net/en/disease/detail/334","Source__c":"C3468561; MONDO:0018054; ORPHA:334","Xref__c":"ORPHA:334"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050650","Source__c":"MONDO:0018054","Xref__c":"DOID:0050650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=894635","Source__c":"C3468561","Xref__c":"MEDGEN:894635"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018054","Source__c":"GARD:0009740","Xref__c":"MONDO:0018054"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation","Source__c":"GARD:0009740","Xref__c":"https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PITX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pitx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYL4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP155","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NKX2-5","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":"KCNQ1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NPPA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCN4B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCN3B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNE2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GJA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCN2B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cerebrovascular accident (stroke) that occurs because of thromboembolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001727","HPO_Name__c":"Thromboembolic stroke","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","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:334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology"]},"synonyms":["atfb"," hereditary atrial fibrillation (disease)"]}