ORPHA:727178

KCNE2-related isolated congenital long QT syndrome

Synonyms: KCNE2-related Isolated congenital LQTS · LQTS type 6

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	KCNE2-related isolated congenital long QT syndrome	KCNE2-related Isolated congenital LQTS · LQTS type 6
fr	Syndrome du QT long congénital isolé associé à KCNE2	LQTS type 6 · LQTS congénital isolé associé à KCNE2
de	KCNE2-assoziiertes isoliertes kongenitales Long-QT-Syndrom	Long-QT-Syndrom Typ 6
es	Síndrome de QT largo congénito aislado asociado al gen KCNE2	SQTL aislado congénito asociado al gen KCNE2 · SQTL tipo 6
it	Sindrome del QT lungo congenita isolata correlata a KCNE2	LQTS tipo 6 · LQTS congenita isolata correlata a KCNE2
nl	KCNE2-gerelateerd geïsoleerd congenitaal lang-QT-syndroom	LQTS type 6 · KCNE2-gerelateerd geïsoleerd congenitaal LQTS
pt	KCNE2-related isolated congenital Long QT syndrome
pl	KCNE2-related isolated congenital long QT syndrome	= en
cs	KCNE2-related isolated congenital long QT syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613693	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
KCNE2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:6242	ENSG00000159197	603796	21q22.11	potassium voltage-gated channel subfamily E regulatory subunit 2	20301308[PMID]_24093767[PMID]

0 records

No prevalence record in this release.

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