LQT6
MCID: LNG051
MIFTS: 42
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Long Qt Syndrome 6 (LQT6)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Long Qt Syndrome 6:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
association of cardiac events with exercise 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 HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Blood diseases
ICD10:
33
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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). (613693)
MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to atrial fibrillation, familial, 4 and third-degree atrioventricular block, and has symptoms including syncope An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval Disease Ontology : 12 A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. UniProtKB/Swiss-Prot : 75 Long QT syndrome 6: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613693Human phenotypes related to Long Qt Syndrome 6:32
UMLS symptoms related to Long Qt Syndrome 6:syncope MGI Mouse Phenotypes related to Long Qt Syndrome 6:46
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MalaCards organs/tissues related to Long Qt Syndrome 6:41
Heart
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UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:75
ClinVar genetic disease variations for Long Qt Syndrome 6:6 (show all 38)
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Search
GEO
for disease gene expression data for Long Qt Syndrome 6.
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Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:
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Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:(show all 49)
Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:(show all 14)
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