{"Name":"Progressive familial heart block type II","DiseaseID__c":"GARD:0004879","id":4879,"encodedName":"progressive-familial-heart-block-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Progressive familial heart block type II","Xref_IDs__c":"698251009; C1841658; C564202; DOID:0111075; MEDGEN:333884; MONDO:0007701; OMIM:140400","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:140400","Disease_Description__c":"Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see {113900}). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes ({1:Brink and Torrington, 1977}).","GARD_Name__c":"Progressive familial heart block type II","GARD_Synonym__c":"pfhb2; progressive familial heart block, type ii","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Progressive familial heart block type II (PFHB2) is a genetic condition that affects the heart. It is inherited in an autosomal dominant patern, which means that a person only needs to inherit one copy of the gene variant from a parent to develop the condition. PFHB2 tends to cause a slow heart rate (bradycardia) and a specific type of heart block that can lead to fainting (syncopal episodes), seizures (specifically Stokes-Adams), or sudden death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:140400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007701","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 II (PFHB2) is a genetic condition that affects the heart. It is inherited in an autosomal dominant patern, which means that a person only needs to inherit one copy of the gene variant from a parent to develop the condition. PFHB2 tends to cause a slow heart rate (bradycardia) and a specific type of heart block that can lead to fainting (syncopal episodes), seizures (specifically Stokes-Adams), or sudden death.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"pfhb2; progressive familial heart block, type ii","Name":"Progressive familial heart block type II","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/0004879","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1841658","Source__c":"C1841658","Xref__c":"C1841658"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333884","Source__c":"C1841658","Xref__c":"MEDGEN:333884"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564202","Source__c":"MONDO:0007701","Xref__c":"C564202"},{"URL__c":"https://www.omim.org/entry/140400","Source__c":"C1841658; MONDO:0007701","Xref__c":"OMIM:140400"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698251009","Source__c":"C1841658; MONDO:0007701","Xref__c":"698251009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111075","Source__c":"MONDO:0007701","Xref__c":"DOID:0111075"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007701","Source__c":"GARD:0004879","Xref__c":"MONDO:0007701"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:140400","Feature__r":{"HPO_Description__c":"Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001688","HPO_Name__c":"Sinus bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140400","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:140400","Feature__r":{"HPO_Description__c":"Rapid and unexpected death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001699","HPO_Name__c":"Sudden death","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140400","Feature__r":{"HPO_Description__c":"A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005178","HPO_Name__c":"Complete heart block with narrow QRS complexes","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:140400","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:140400","Feature__r":{"HPO_Description__c":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001678","HPO_Synonym__c":"Interruption of electrical communication between upper and lower chambers of heart","HPO_Name__c":"Atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Clinical Cardiac Electrophysiology"]},"synonyms":["pfhb2"," progressive familial heart block, type ii"]}