ZFIN Human Disease: Andersen-Tawil syndrome

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:	GARD:9453 MESH:D050030 NCI:C84559 OMIM:170390 ORDO:37553 SNOMEDCT_US_2023_03_01:422348008 UMLS_CUI:C1563715
Ontology:	Human Disease ( DOID:0050434 )

Relationships

is a type of:	autosomal dominant disease long QT syndrome autosomal dominant disease long QT syndrome Show first 5 Terms

OTHER Andersen-Tawil syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KCNJ2	kcnj2a kcnj2b	Andersen syndrome	170390

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None