Details of Disease

General Information of Disease (ID: DISL0NEK)

Disease Name Long QT syndrome 11
Synonyms long QT syndrome type 11; LQT11; AKAP9 long QT syndrome; long QT syndrome caused by mutation in AKAP9; long QT syndrome 11
Definition Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.
Disease Hierarchy
DISRNNCY: Familial long QT syndrome
DISL0NEK: Long QT syndrome 11
Disease Identifiers
MONDO ID
MONDO_0012738
MESH ID
C567513
UMLS CUI
C2678483
OMIM ID
611820
MedGen ID
437218

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AKAP9 OT7Z2YRP Limited Autosomal dominant [1]
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References

1 Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 2002 Jan 18;295(5554):496-9. doi: 10.1126/science.1066843.