Long Qt Syndrome 15 (LQT15)

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Disease Ontology 12 DOID:0110656 OMIM 56 616249 OMIM Phenotypic Series 56 PS192500 MeSH 43 D008133

ICD10 32 I45.8 MedGen 41 C4015695 CN228134 SNOMED-CT via HPO 68 263681008 397829000 410429000 48867003 71908006 more UMLS 71 C4015695

OMIM : ⁵⁶ 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)

MalaCards based summary : Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 14 and cardiac arrhythmia. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Circadian entrainment. Affiliated tissues include heart and testes, and related phenotypes are cardiac arrest and bradycardia

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.

UniProtKB/Swiss-Prot : ⁷³ Long QT syndrome 15: 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.

Clinical features from OMIM:

616249

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 15

Search GEO for disease gene expression data for Long Qt Syndrome 15.