{"Name":"Progressive familial heart block type IB","DiseaseID__c":"GARD:0002610","id":2610,"encodedName":"progressive-familial-heart-block-type-ib","IsDeleted":false,"Disease_Name_Full__c":"Progressive familial heart block type IB","Xref_IDs__c":"698250005; C1970298; C567037; DOID:0111076; MEDGEN:370220; MONDO:0011474; OMIM:604559","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011474","Disease_Description__c":"Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.","GARD_Name__c":"Progressive familial heart block type IB","GARD_Synonym__c":"pfhb1b; progressive familial heart block caused by mutation in trpm4; progressive familial heart block, type ib; trpm4 progressive familial heart block","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Progressive familial heart block, type ib is a condition that affects the heart's electrical system. It is caused by a change in a gene called TRPM4. This condition can cause the heart to beat too slowly or skip beats.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:604559","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011474","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 ib is a condition that affects the heart's electrical system. It is caused by a change in a gene called TRPM4. This condition can cause the heart to beat too slowly or skip beats.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"pfhb1b; progressive familial heart block caused by mutation in trpm4; progressive familial heart block, type ib; trpm4 progressive familial heart block","Name":"Progressive familial heart block type IB","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/0002610","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567037","Source__c":"MONDO:0011474","Xref__c":"C567037"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370220","Source__c":"C1970298","Xref__c":"MEDGEN:370220"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111076","Source__c":"MONDO:0011474","Xref__c":"DOID:0111076"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698250005","Source__c":"C1970298; MONDO:0011474","Xref__c":"698250005"},{"URL__c":"https://www.omim.org/entry/604559","Source__c":"C1970298; MONDO:0011474","Xref__c":"OMIM:604559"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970298","Source__c":"C1970298","Xref__c":"C1970298"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011474","Source__c":"GARD:0002610","Xref__c":"MONDO:0011474"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPM4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpm4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604559","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604559","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:604559","Feature__r":{"HPO_Description__c":"Conduction block in the anterior division of the left bundle branch of the bundle of His.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011711","HPO_Synonym__c":"Left anterior hemiblock","HPO_Name__c":"Left anterior fascicular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604559","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:604559","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604559","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"}},{"Provided_By__c":"OMIM:604559","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001657","HPO_Synonym__c":"Long QT syndrome; Prolong qt interval on ekg","HPO_Name__c":"Prolonged QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:604559","Feature__r":{"HPO_Description__c":"Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005165","HPO_Synonym__c":"Electrocardiographic short PR interval; Short P-R interval; Shortened PR interval on EKG","HPO_Name__c":"Shortened PR interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}}],"tags":{"Specialist":["Clinical Cardiac Electrophysiology"]},"synonyms":["pfhb1b"," progressive familial heart block caused by mutation in trpm4"," progressive familial heart block, type ib"," trpm4 progressive familial heart block"]}