Long Qt Syndrome 13 (LQT13)

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Disease Ontology 12 DOID:0110654 OMIM 57 613485 PS192500 MeSH 44 D008133

ICD10 33 I45.8 MedGen 42 C3150733 UMLS 72 C3150733

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.

Clinical features from OMIM:

613485

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 13

Search GEO for disease gene expression data for Long Qt Syndrome 13.