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Summary Literature (6)
DOID:0050434 - Andersen-Tawil syndrome


Disease Ontology 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.

Synonyms: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS, ATS, Andersen syndrome , LQT7, Long QT syndrome 7, Potassium-Sensitive Cardiodysrhythmic Type

Xenbase Genes : kcnj2, kcnj5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008222 - Andersen-Tawil syndrome

OMIM:
OMIM:170390 - ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), long QT syndrome (is_a)