Concept information
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Congenital Abnormalities
Cardiovascular Abnormalities
Heart Defects, Congenital
Long QT Syndrome
Preferred term
Jervell-Lange Nielsen Syndrome
Type
-
mesh:Descriptor
Definition
- A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Broader concept
Entry terms
- Cardio-Auditory-Syncope Syndrome
- Cardioauditory Syndrome of Jervell and Lange-Nielsen
- Deafness, Congenital, and Functional Heart Disease
- Jervell and Lange-Nielsen Syndrome
- Prolonged QT Interval in EKG and Sudden Death
- Surdo-Cardiac Syndrome
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Syndrome de Jervell-Lange Nielsen
-
Syndrome du QT Long de Jervell et Lange-Nielsen
URI
http://data.loterre.fr/ark:/67375/JVR-FVS3FH9L-1
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