{"Name":"Long QT syndrome 9","DiseaseID__c":"GARD:0010435","id":10435,"encodedName":"long-qt-syndrome-9","IsDeleted":false,"Disease_Name_Full__c":"Long QT syndrome 9","Xref_IDs__c":"C2678485; C567515; DOID:0110650; MEDGEN:395635; MONDO:0012736; OMIM:611818","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:0012736","Disease_Description__c":"Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.","GARD_Name__c":"Long QT syndrome 9","GARD_Synonym__c":"cav3 long qt syndrome; long qt syndrome caused by mutation in cav3; long qt syndrome type 9; lqt9","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Long QT syndrome 9 is a heart condition that people are born with. It can be seen on a test called an electrocardiogram (ECG) which shows a prolonged QT interval (the time it takes for the heart to contract and then relax) and can cause a type of abnormal heart rhythm called torsade de pointes. This can lead to fainting, seizures, or even sudden death. There are different types of long QT syndrome caused by different genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:611818","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012736","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 9 is a heart condition that people are born with. It can be seen on a test called an electrocardiogram (ECG) which shows a prolonged QT interval (the time it takes for the heart to contract and then relax) and can cause a type of abnormal heart rhythm called torsade de pointes. This can lead to fainting, seizures, or even sudden death. There are different types of long QT syndrome caused by different genes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cav3 long qt syndrome; long qt syndrome caused by mutation in cav3; long qt syndrome type 9; lqt9","Name":"Long QT syndrome 9","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010435","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1129","Source__c":"Gene Review","Xref__c":"NBK1129"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110650","Source__c":"MONDO:0012736","Xref__c":"DOID:0110650"},{"URL__c":"https://www.omim.org/entry/611818","Source__c":"C2678485; MONDO:0012736","Xref__c":"OMIM:611818"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678485","Source__c":"C2678485","Xref__c":"C2678485"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567515","Source__c":"MONDO:0012736","Xref__c":"C567515"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395635","Source__c":"C2678485","Xref__c":"MEDGEN:395635"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012736","Source__c":"GARD:0010435","Xref__c":"MONDO:0012736"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAV3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cav3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611818","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004308","HPO_Synonym__c":"Ventricular arrhythmias","HPO_Name__c":"Ventricular arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611818","HPO_Frequency__c":"Frequent (30-79%)","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:611818","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611818","HPO_Frequency__c":"Frequent (30-79%)","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:611818","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025070","HPO_Name__c":"Abnormal U wave","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:611818","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abrupt loss of heart function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001695","HPO_Synonym__c":"Heart stops beating","HPO_Name__c":"Cardiac arrest","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611818","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{},"synonyms":["cav3 long qt syndrome"," long qt syndrome caused by mutation in cav3"," long qt syndrome type 9"," lqt9"]}