raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:727141

KCNQ1-related isolated congenital long QT syndrome

Synonyms: LQTS type 1 · KCNQ1-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
enKCNQ1-related isolated congenital long QT syndromeLQTS type 1 · KCNQ1-related Isolated congenital LQTS
frSyndrome du QT long congénital isolé associé à KCNQ1LQTS type 1 · LQTS congénital isolé associé à KCNQ1
deKCNQ1-assoziiertes isoliertes kongenitales Long-QT-SyndromLong-QT-Syndrom Typ 1
esSíndrome de QT largo congénito aislado asociado al gen KCNQ1SQTL aislado congénito asociado al gen KCNQ1 · SQTL tipo 1
itSindrome del QT lungo congenita isolata correlata a KCNQ1LQTS tipo 1 · LQTS congenita isolata correlata a KCNQ1
nlKCNQ1-gerelateerd geïsoleerd congenitaal lang-QT-syndroomLQTS type 1 · KCNQ1-gerelateerd geïsoleerd congenitaal LQTS
ptKCNQ1-related isolated congenital Long QT syndrome
plKCNQ1-related isolated congenital long QT syndrome= en
csKCNQ1-related isolated congenital long QT syndrome= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM192500Evalidated

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
KCNQ1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:6294ENSG0000005391860754211p15.5-p15.4potassium voltage-gated channel subfamily Q member 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