Andersen-Tawil syndrome

Term ID

DOID:0050434

Synonyms

• ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
• Andersen syndrome
• Long QT syndrome 7
• LQT7
• Potassium-Sensitive Cardiodysrhythmic Type

Definition

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. (2)

References

• GARD:9453
• MESH:D050030
• NCI:C84559
• OMIM:170390
• ORDO:37553
• SNOMEDCT_US_2023_03_01:422348008
• UMLS_CUI:C1563715

Ontology

Human Disease   ( DOID:0050434 )