LQT7

URI: https://gptkb.org/entity/LQT7
GPTKB entity
Statements (19)
Predicate Object
gptkbp:instanceOf gptkb:Genetic_disorder
gptkbp:affects gptkb:Heart
gptkb:Skeletal_muscle
gptkbp:alsoKnownAs gptkb:Andersen-Tawil_syndrome
gptkbp:associatedWith gptkb:Long_QT_syndrome
gptkbp:firstDescribed gptkb:Ellen_Andersen
gptkb:Rabi_Tawil
gptkbp:inheritance Autosomal dominant
gptkbp:mutationAssociatedWith gptkb:KCNJ2_gene
gptkbp:OMIM 170390
gptkbp:prevalence Rare
gptkbp:symptom gptkb:Periodic_paralysis
gptkb:Cardiac_arrhythmia
Dysmorphic features
gptkbp:treatment gptkb:Implantable_cardioverter-defibrillator
Beta blockers
gptkbp:bfsParent gptkb:HGNC:6407
gptkbp:bfsLayer 6
https://www.w3.org/2000/01/rdf-schema#label LQT7