Andersen-Tawil syndrome

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf rare disease
gptkbp:affects gptkb:skeletal_muscle
heart
facial structure
gptkbp:alsoKnownAs gptkb:Long_QT_syndrome_type_7
gptkbp:category muscular dystrophy
cardiac disorder
channelopathy
gptkbp:characterizedBy cardiac arrhythmias
distinctive facial and skeletal features
periodic paralysis
gptkbp:diagnosedBy genetic testing
electrocardiogram
gptkbp:firstDescribed gptkb:Ellen_Andersen
gptkb:Rabi_Tawil
gptkbp:frequency very rare
https://www.w3.org/2000/01/rdf-schema#label Andersen-Tawil syndrome
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:KCNJ2_gene
gptkbp:OMIM 170390
gptkbp:symptom muscle weakness
clinodactyly
hypertelorism
low-set ears
prolonged QT interval
ventricular arrhythmias
gptkbp:treatment gptkb:implantable_cardioverter-defibrillator
beta-blockers
antiarrhythmic drugs
gptkbp:bfsParent gptkb:HGNC:6407
gptkbp:bfsLayer 6