Jervell and Lange-Nielsen syndrome
GPTKB entity
Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
syndrome |
gptkbp:associatedWith |
sudden cardiac arrest
|
gptkbp:category |
gptkb:arrhythmia
congenital deafness |
gptkbp:firstDescribed |
gptkb:Anton_Jervell
gptkb:Fred_Lange-Nielsen 1957 |
gptkbp:hasOrphanetID |
ORPHA328
|
https://www.w3.org/2000/01/rdf-schema#label |
Jervell and Lange-Nielsen syndrome
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:mutationAssociatedWith |
gptkb:KCNE1_gene
gptkb:KCNQ1_gene |
gptkbp:OMIM |
220400
|
gptkbp:prevalence |
rare
|
gptkbp:symptom |
sudden cardiac death
syncope long QT interval profound sensorineural hearing loss |
gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta blockers |
gptkbp:bfsParent |
gptkb:KCNQ1
gptkb:long_QT_syndrome |
gptkbp:bfsLayer |
6
|