{"Name":"Progressive familial heart block, type 1A","DiseaseID__c":"GARD:0001093","id":1093,"encodedName":"progressive-familial-heart-block-type-1a","IsDeleted":false,"Disease_Name_Full__c":"Progressive familial heart block, type 1A","Xref_IDs__c":"C126651; C1879286; D002037; DOID:0111074; MEDGEN:406301; MONDO:0007240","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":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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007240","Disease_Description__c":"An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.","GARD_Name__c":"Progressive familial heart block, type 1A","GARD_Synonym__c":"cardiac conduction defect progressive; heart block progressive familial type 1; heart block, progressive familial, type i; heart block, progressive, type ia; hereditary bundle branch system defect; lenegre syndrome; lenegre-lev syndrome; lenegre's disease; lev syndrome; lev-lenègre disease; lev's disease; lev's syndrome; pfhb1a; progressive cardiac conduction defect; progressive familial heart block caused by mutation in scn5a; progressive familial heart block, type ia; scn5a progressive familial heart block","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Progressive familial heart block type I (PFHBI) is a heart condition that is passed down in families. It is classified as a bundle branch disorder which means there are problems with the heart's electrical system. These problems can cause your heart beat to slow or even stop. Symptoms may include shortness of breath (dyspnea), fainting (syncopal episodes), or sudden death. PFHB1 is diagnosed by an electrocardiogram (ECG), which shows changes in the heart's electrical activity. PFHB1A is caused by changes in the SCN5A gene. It follows an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:113900","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007240","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":"Progressive familial heart block type I (PFHBI) is a heart condition that is passed down in families. It is classified as a bundle branch disorder which means there are problems with the heart's electrical system. These problems can cause your heart beat to slow or even stop. Symptoms may include shortness of breath (dyspnea), fainting (syncopal episodes), or sudden death. PFHB1 is diagnosed by an electrocardiogram (ECG), which shows changes in the heart's electrical activity. PFHB1A is caused by changes in the SCN5A gene. It follows an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cardiac conduction defect progressive; heart block progressive familial type 1; heart block, progressive familial, type i; heart block, progressive, type ia; hereditary bundle branch system defect; lenegre syndrome; lenegre-lev syndrome; lenegre's disease; lev syndrome; lev-lenègre disease; lev's disease; lev's syndrome; pfhb1a; progressive cardiac conduction defect; progressive familial heart block caused by mutation in scn5a; progressive familial heart block, type ia; scn5a progressive familial heart block","Name":"Progressive familial heart block, type 1A","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001093","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1879286","Source__c":"C1879286","Xref__c":"C1879286"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126651","Source__c":"C1879286; MONDO:0007240","Xref__c":"C126651"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111074","Source__c":"MONDO:0007240","Xref__c":"DOID:0111074"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=406301","Source__c":"C1879286","Xref__c":"MEDGEN:406301"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002037","Source__c":"MONDO:0007240","Xref__c":"D002037"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698249005","Source__c":"C1879286","Xref__c":"698249005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007240","Source__c":"GARD:0001093","Xref__c":"MONDO:0007240"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=283645003","Source__c":"C1879286","Xref__c":"283645003"},{"URL__c":"https://medlineplus.gov/genetics/condition/progressive-familial-heart-block","Source__c":"GARD:0001093","Xref__c":"https://medlineplus.gov/genetics/condition/progressive-familial-heart-block"}],"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}],"tags":{"Specialist":["Clinical Cardiac Electrophysiology"]},"synonyms":["cardiac conduction defect progressive"," heart block progressive familial type 1"," heart block, progressive familial, type i"," heart block, progressive, type ia"," hereditary bundle branch system defect"," lenegre syndrome"," lenegre-lev syndrome"," lenegre's disease"," lev syndrome"," lev-lenègre disease"," lev's disease"," lev's syndrome"," pfhb1a"," progressive cardiac conduction defect"," progressive familial heart block caused by mutation in scn5a"," progressive familial heart block, type ia"," scn5a progressive familial heart block"]}