LQT1
MCID: LNG044
MIFTS: 67
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Long Qt Syndrome 1 (LQT1)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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MalaCards integrated aliases for Long Qt Syndrome 1:
Characteristics:Inheritance:
Long Qt Syndrome 1:
Autosomal dominant 57
Romano-Ward Syndrome:
Autosomal dominant,Autosomal recessive 58
Prevelance:
Romano-Ward Syndrome:
1-5/10000 (Europe) 58
Age Of Onset:
Romano-Ward Syndrome:
All ages 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity association of cardiac events with exercise patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene gei (gene-environment interaction) - association of cardiac events with drug administration Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Muscle diseases Ear diseases Blood diseases
ICD10:
31
32
External Ids:
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MedlinePlus Genetics: 42 Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities. MalaCards based summary: Long Qt Syndrome 1, also known as romano-ward syndrome, is related to long qt syndrome 2 and long qt syndrome 3, and has symptoms including syncope An important gene associated with Long Qt Syndrome 1 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transmission across Chemical Synapses. The drugs Carbamide peroxide and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skeletal muscle, and related phenotypes are prolonged qtc interval and syncope GARD: 19 Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion. 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). A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600). (192500) (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. Orphanet: 58 A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia). Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. Wikipedia 75 Long qt syndrome type 1: Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... more... Romano-ward syndrome: Romano-Ward syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart... more... |
Human phenotypes related to Long Qt Syndrome 1:58 30 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:192500 (Updated 08-Dec-2022)UMLS symptoms related to Long Qt Syndrome 1:syncope GenomeRNAi Phenotypes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Long Qt Syndrome 1:45
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Drugs for Long Qt Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 36)
Interventional clinical trials:
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Organs/tissues related to Long Qt Syndrome 1:
MalaCards :
Heart,
Brain,
Skeletal Muscle,
Trachea,
Colon,
Thyroid,
Eye
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Articles related to Long Qt Syndrome 1:(show top 50) (show all 882)
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ClinVar genetic disease variations for Long Qt Syndrome 1:5 (show top 50) (show all 1822)
UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 1:73 (show top 50) (show all 123)
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Search
GEO
for disease gene expression data for Long Qt Syndrome 1.
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Pathways related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:(show all 41)
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Cellular components related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:(show all 18)
Biological processes related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:(show top 50) (show all 71)
Molecular functions related to Long Qt Syndrome 1 according to GeneCards Suite gene sharing:(show all 25)
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