raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:727185

KCNE1-related isolated congenital long QT syndrome

Synonyms: LQTS type 5 · KCNE1-related Isolated congenital LQTS

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enKCNE1-related isolated congenital long QT syndromeLQTS type 5 · KCNE1-related Isolated congenital LQTS
frSyndrome du QT long congénital isolé associé à KCNE1LQTS type 5 · LQTS congénital isolé associé à KCNE1
deKCNE1-assoziiertes isoliertes kongenitales Long-QT-SyndromLong-QT-Syndrom Typ 5
esSíndrome de QT largo congénito aislado asociado al gen KCNE1SQTL aislado asociado al gen KCNE1 · SQTL tipo 5
itSindrome del QT lungo congenita isolata correlata a KCNE1LQTS tipo 5 · LQTS congenita isolata correlata a KCNE1
nlKCNE1-gerelateerd geïsoleerd congenitaal lang-QT-syndroomLQTS type 5 · KCNE1-gerelateerd geïsoleerd congenitaal LQTS
ptKCNE1-related isolated congenital long QT syndrome
plKCNE1-related isolated congenital long QT syndrome= en
csKCNE1-related isolated congenital long QT syndrome= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM613695Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
KCNE1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:6240ENSG0000018050917626121q22.12potassium voltage-gated channel subfamily E regulatory subunit 120301308[PMID]_24093767[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card