Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome rare disease |
| gptkbp:affects |
cardiovascular system
auditory system |
| gptkbp:category |
channelopathy
hereditary heart disease syndromic deafness |
| gptkbp:firstDescribed |
gptkb:Anton_Jervell
gptkb:Fred_Lange-Nielsen 1957 |
| https://www.w3.org/2000/01/rdf-schema#label |
Jervell and Lange-Nielsen
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:KCNE1_gene
gptkb:KCNQ1_gene |
| gptkbp:OMIM |
220400
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
sudden cardiac death
syncope long QT interval profound congenital sensorineural deafness |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta blockers cochlear implants |
| gptkbp:bfsParent |
gptkb:long_QT_syndrome
|
| gptkbp:bfsLayer |
6
|