{"Name":"Familial sick sinus syndrome","DiseaseID__c":"GARD:0013663","id":13663,"encodedName":"familial-sick-sinus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial sick sinus syndrome","Xref_IDs__c":"233913007; C0340491; C563907; MEDGEN:573766; MONDO:0012061; OMIMPS:608567; ORPHA:166282","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012061","Disease_Description__c":"A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.","GARD_Name__c":"Familial sick sinus syndrome","GARD_Synonym__c":"familial sinus node dysfunction; hereditary sick sinus syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial sick sinus syndrome is a rare heart rhythm disease that usually affects older people. It happens when the heart's electrical system doesn't work properly, which leads to problems with the heart rate. Symptoms may include fainting, dizziness, heart palpitations, fatigue, or even heart failure. People with sick sinus syndrome may experience bradycardia (slow heart rate), and/or episodes where the heart pauses or stops. People with sick sinus syndrome are at higher risk of developing atrial fibrillation (a type of irregular heartbeat) and other heart-related complications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:166282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012061","ORPHANET_ID__c":"ORPHA:166282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome hereditario del seno enfermo","Spanish_Description_Source__c":"ORPHA:166282","Spanish_Description__c":"Es una enfermedad poco frecuente del ritmo cardiaco, que se da normalmente en ancianos, caracterizada por los signos electrocardiográficos de bradicardia sinusal, fibrilación auricular, taquicardia auricular, pausa sinusal o bloqueo sinoauricular; se manifiesta con síntomas como síncope, vértigos, palpitaciones, fatiga o incluso insuficiencia cardiaca. Está provocado por el mal funcionamiento del sistema de conducción cardiaca, probablemente como consecuencia de la fibrosis degenerativa del tejido del nodo sinusal en ancianos o de trastornos cardiacos en pacientes más jóvenes.","Spanish_Disease_Name__c":"síndrome hereditario del seno enfermo","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 sick sinus syndrome is a rare heart rhythm disease that usually affects older people. It happens when the heart's electrical system doesn't work properly, which leads to problems with the heart rate. Symptoms may include fainting, dizziness, heart palpitations, fatigue, or even heart failure. People with sick sinus syndrome may experience bradycardia (slow heart rate), and/or episodes where the heart pauses or stops. People with sick sinus syndrome are at higher risk of developing atrial fibrillation (a type of irregular heartbeat) and other heart-related complications.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"familial sinus node dysfunction; hereditary sick sinus syndrome","Name":"Familial sick sinus syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"Adult","Provided_By__c":"ORPHA:166282"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:166282"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013663","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=573766","Source__c":"C0340491","Xref__c":"MEDGEN:573766"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233913007","Source__c":"C0340491; MONDO:0012061","Xref__c":"233913007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340491","Source__c":"C0340491","Xref__c":"C0340491"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS608567","Source__c":"MONDO:0012061","Xref__c":"OMIMPS:608567"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563907","Source__c":"MONDO:0012061","Xref__c":"C563907"},{"URL__c":"https://www.orpha.net/en/disease/detail/166282","Source__c":"C0340491; MONDO:0012061; ORPHA:166282","Xref__c":"ORPHA:166282"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012061","Source__c":"GARD:0013663","Xref__c":"MONDO:0012061"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN5A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scn5a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HCN4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hcn4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GNB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology"]},"synonyms":["familial sinus node dysfunction"," hereditary sick sinus syndrome"],"spanishId":13664,"spanishName":"sindrome-familiar-del-seno-enfermo"}