{"Name":"Long QT syndrome 10","DiseaseID__c":"GARD:0010436","id":10436,"encodedName":"long-qt-syndrome-10","IsDeleted":false,"Disease_Name_Full__c":"Long QT syndrome 10","Xref_IDs__c":"C2678484; C567514; DOID:0110651; MEDGEN:394836; MONDO:0012737; OMIM:611819","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":"MONDO:0012737","Disease_Description__c":"Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.","GARD_Name__c":"Long QT syndrome 10","GARD_Synonym__c":"long qt syndrome caused by mutation in scn4b; long qt syndrome type 10; lqt10; scn4b long qt syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C2678484","Curated_Disease_Description__c":"Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:611819","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012737","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":"Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.","Curated_Disease_Description_Source__c":"MEDGEN:C2678484","GARD_Synonym__c":"long qt syndrome caused by mutation in scn4b; long qt syndrome type 10; lqt10; scn4b long qt syndrome","Name":"Long QT syndrome 10","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2678484"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010436","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1129","Source__c":"Gene Review","Xref__c":"NBK1129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678484","Source__c":"C2678484","Xref__c":"C2678484"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110651","Source__c":"MONDO:0012737","Xref__c":"DOID:0110651"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394836","Source__c":"C2678484","Xref__c":"MEDGEN:394836"},{"URL__c":"https://www.omim.org/entry/611819","Source__c":"C2678484; MONDO:0012737","Xref__c":"OMIM:611819"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567514","Source__c":"MONDO:0012737","Xref__c":"C567514"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012737","Source__c":"GARD:0010436","Xref__c":"MONDO:0012737"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCN4B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611819","Feature__r":{"HPO_Description__c":"A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012266","HPO_Name__c":"T-wave alternans","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:611819","HPO_Frequency__c":"Occasional (5-29%)","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:611819","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:611819","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:611819","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":{},"synonyms":["long qt syndrome caused by mutation in scn4b"," long qt syndrome type 10"," lqt10"," scn4b long qt syndrome"]}