raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:727149

KCNH2-related isolated congenital long QT syndrome

Synonyms: KCNH2-related isolated congenital LQTS · LQTS type 2

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
enKCNH2-related isolated congenital long QT syndromeKCNH2-related isolated congenital LQTS · LQTS type 2
frSyndrome du QT long congénital isolé associé à KCNH2LQTS type 2 · LQTS congénital isolé associé à KCNH2
deKCNH2-assoziiertes isoliertes kongenitales Long-QT-SyndromLong-QT-Syndrom Typ 2
esSíndrome de QT largo congénito aislado asociado al gen KCNH2SQTL aislado congénito asociado al gen KCNH2 · SQTL tipo 2
itSindrome del QT lungo congenita isolata correlata a KCNH2LQTS tipo 2 · LQTS congenita isolata correlata a KCNH2
nlKCNH2-gerelateerd geïsoleerd congenitaal lang-QT-syndroomLQTS type 2 · KCNH2-gerelateerd geïsoleerd congenitaal LQTS
ptKCNH2-related isolated congenital Long QT syndrome
plKCNH2-related isolated congenital long QT syndrome= en
csKCNH2-related isolated congenital long QT syndrome= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM613688Evalidated

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
KCNH2Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:6251ENSG000000551181524277q36.1potassium voltage-gated channel subfamily H member 220301308[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