LQT15
MCID: LNG096
MIFTS: 43
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Long Qt Syndrome 15 (LQT15)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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MalaCards integrated aliases for Long Qt Syndrome 15:
Characteristics:Inheritance:
Autosomal dominant 57
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases
ICD10:
31
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OMIM®: 57 LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block (Crotti et al., 2013). Patients with LQT14 (616247), LQT15, or LQT16 (618782), resulting from mutation in calmodulin genes CALM1 (114180), CALM2, or CALM3 (114183), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). (616249) (Updated 08-Dec-2022) MalaCards based summary: Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 14 and flying phobia. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Olfactory Signaling Pathway. Affiliated tissues include heart, heart-atrium and heart-ventricle, and related phenotypes are seizure and syncope UniProtKB/Swiss-Prot: 73 A form of long QT syndrome, 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 CALM2 gene on chromosome 2p21. |
Human phenotypes related to Long Qt Syndrome 15:30 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616249 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:25
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Organs/tissues related to Long Qt Syndrome 15:
MalaCards :
Heart
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Articles related to Long Qt Syndrome 15:
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ClinVar genetic disease variations for Long Qt Syndrome 15:5 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 15:73
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Search
GEO
for disease gene expression data for Long Qt Syndrome 15.
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Pathways related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:(show top 50) (show all 63)
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Cellular components related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:
Biological processes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:(show all 38)
Molecular functions related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:(show all 15)
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