Jervell and Lange-Nielsen syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| gptkbp:associatedWith |
sudden cardiac arrest
|
| gptkbp:category |
gptkb:arrhythmia
congenital deafness |
| gptkbp:firstDescribed |
gptkb:Anton_Jervell
gptkb:Fred_Lange-Nielsen 1957 |
| gptkbp:hasOrphanetID |
ORPHA328
|
| 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
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Jervell and Lange-Nielsen syndrome
|