LQT13
MCID: LNG057
MIFTS: 37
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Long Qt Syndrome 13 (LQT13)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Long Qt Syndrome 13:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
patients have normal aldosterone/renin ratios and 24-hour urine aldosterone levels 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). (613485)
MalaCards based summary : Long Qt Syndrome 13, also known as lqt13, is related to long qt syndrome 2 and long qt syndrome. An important gene associated with Long Qt Syndrome 13 is KCNJ5 (Potassium Inwardly Rectifying Channel Subfamily J Member 5), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are hypertension and atrioventricular block Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. UniProtKB/Swiss-Prot : 74 Long QT syndrome 13: 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. |
Human phenotypes related to Long Qt Syndrome 13:32 (show all 11)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613485MGI Mouse Phenotypes related to Long Qt Syndrome 13:46
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MalaCards organs/tissues related to Long Qt Syndrome 13:41
Heart
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Articles related to Long Qt Syndrome 13:
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ClinVar genetic disease variations for Long Qt Syndrome 13:6
UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 13:74
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Search
GEO
for disease gene expression data for Long Qt Syndrome 13.
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Pathways related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:
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Cellular components related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:
Biological processes related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Long Qt Syndrome 13 according to GeneCards Suite gene sharing:(show all 12)
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