Long Qt Syndrome 13

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OMIM 57 613485 Disease Ontology 12 DOID:0110654 ICD10 33 I45.8 MedGen 42 C3150733

MeSH 44 D008133 SNOMED-CT via HPO 69 263681008 24184005 38341003 271594007 272030005 309585006 42343007 84114007 111975006 414024009 53741008 233917008 397829000 410429000 59282003 282825002 49436004 more UMLS 73 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 and familial short qt syndrome. An important gene associated with Long Qt Syndrome 13 is KCNJ5 (Potassium Voltage-Gated Channel Subfamily J Member 5), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Transmission across Chemical Synapses. 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 : ⁷⁵ 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.