Long Qt Syndrome 11 (LQT11)

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Disease Ontology 12 DOID:0110652 OMIM® 57 611820 OMIM Phenotypic Series 57 PS192500 MeSH 44 D008133

ICD10 32 I45.8 MedGen 41 C2678483 SNOMED-CT via HPO 68 111975006 263681008 271594007 272030005 309585006 more UMLS 71 C2678483

UniProtKB/Swiss-Prot : ⁷³ Long QT syndrome 11: 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.

MalaCards based summary : Long Qt Syndrome 11, also known as lqt11, is related to deafness, autosomal recessive 98 and familial short qt syndrome, and has symptoms including syncope An important gene associated with Long Qt Syndrome 11 is AKAP9 (A-Kinase Anchoring Protein 9), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and syncope

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.

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). (611820) (Updated 05-Mar-2021)

Clinical features from OMIM®:

611820 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 11

Search GEO for disease gene expression data for Long Qt Syndrome 11.