OBO ID: DOID:0050434
Term Name: Andersen-Tawil syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0050434)
OTHER Andersen-Tawil syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNJ2 Andersen syndrome 170390
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None