You are using an outdated browser. Please upgrade your browser to improve your experience.

Andersen-Tawil syndrome

Disease Summary
Associated Targets (2)
Tchem

2


Explore Associated Targets
Mondo Description Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
Uniprot Description 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. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
Disease Ontology Description A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
Mondo Term and Equivalent IDs
MONDO:0008222:  Andersen-Tawil syndrome
GARD:0009453: 
MESH:D050030: 
NCIT:C84559: 
Orphanet:37553: 
SCTID:422348008: 
UMLS:C1563715: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)