{"Name":"Long QT syndrome 11","DiseaseID__c":"GARD:0010437","id":10437,"encodedName":"long-qt-syndrome-11","IsDeleted":false,"Disease_Name_Full__c":"Long QT syndrome 11","Xref_IDs__c":"C192195; C2678483; C567513; DOID:0110652; MEDGEN:437218; MONDO:0012738; OMIM:611820","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012738","Disease_Description__c":"Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.","GARD_Name__c":"Long QT syndrome 11","GARD_Synonym__c":"akap9 long qt syndrome; long qt syndrome caused by mutation in akap9; long qt syndrome type 11; lqt11","Curated_Disease_Description_Source__c":"MEDGEN:C2678483","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:611820","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012738","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:C2678483","GARD_Synonym__c":"akap9 long qt syndrome; long qt syndrome caused by mutation in akap9; long qt syndrome type 11; lqt11","Name":"Long QT syndrome 11","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2678483"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010437","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1129","Source__c":"Gene Review","Xref__c":"NBK1129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=437218","Source__c":"C2678483","Xref__c":"MEDGEN:437218"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110652","Source__c":"MONDO:0012738","Xref__c":"DOID:0110652"},{"URL__c":"https://www.omim.org/entry/611820","Source__c":"C2678483; MONDO:0012738","Xref__c":"OMIM:611820"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567513","Source__c":"MONDO:0012738","Xref__c":"C567513"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678483","Source__c":"C2678483","Xref__c":"C2678483"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012738","Source__c":"GARD:0010437","Xref__c":"MONDO:0012738"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C192195","Source__c":"C2678483","Xref__c":"C192195"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AKAP9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611820","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005184","HPO_Name__c":"Prolonged QTc interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:611820","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{},"synonyms":["akap9 long qt syndrome"," long qt syndrome caused by mutation in akap9"," long qt syndrome type 11"," lqt11"]}