LQT5
MCID: LNG050
MIFTS: 47
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Long Qt Syndrome 5 (LQT5)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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MalaCards integrated aliases for Long Qt Syndrome 5:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
gei (gene-environment interaction) - association of cardiac events with drug administration genetic heterogeneity (see lqt1 ) patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene homozygous mutation of kcne1 causes jervell and lange-nielsen syndrome Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases
ICD10:
31
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GARD: 19 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. MalaCards based summary: Long Qt Syndrome 5, also known as lqt5, is related to familial long qt syndrome and ventricular fibrillation, paroxysmal familial, 1, and has symptoms including syncope An important gene associated with Long Qt Syndrome 5 is KCNE1 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include heart and heart-ventricle, and related phenotypes are sinus bradycardia and ventricular fibrillation OMIM®: 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613695) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. |
Human phenotypes related to Long Qt Syndrome 5:30 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613695 (Updated 08-Dec-2022)UMLS symptoms related to Long Qt Syndrome 5:syncope MGI Mouse Phenotypes related to Long Qt Syndrome 5:45
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Cochrane evidence based reviews: long qt syndrome 5 |
Organs/tissues related to Long Qt Syndrome 5:
MalaCards :
Heart
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Articles related to Long Qt Syndrome 5:(show top 50) (show all 65)
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ClinVar genetic disease variations for Long Qt Syndrome 5:5 (show top 50) (show all 102)
UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 5:73
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Search
GEO
for disease gene expression data for Long Qt Syndrome 5.
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Pathways related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:
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Cellular components related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:(show all 17)
Biological processes related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:(show all 50)
Molecular functions related to Long Qt Syndrome 5 according to GeneCards Suite gene sharing:(show all 15)
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