ORPHA:727203

SCN5A-related isolated congenital long QT syndrome

Synonyms: LQTS type 3 · SCN5A-related isolated congenital LQTS

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	SCN5A-related isolated congenital long QT syndrome	LQTS type 3 · SCN5A-related isolated congenital LQTS
fr	Syndrome du QT long congénital isolé associé à SCN5A	LQTS type 3 · LQTS congénital isolé associé à SCN5A
de	SCN5A-assoziiertes isoliertes kongenitales Long-QT-Syndrom	Long-QT-Syndrom Typ 3 · SCN5A-assoziiertes isoliertes kongenitales LQTS
es	Síndrome de QT largo congénito aislado asociado al gen SCN5A	SQTL tipo 3 · SQTL aislado congénito asociado al gen SCN5A
it	Sindrome del QT lungo congenita isolata correlata a SCN5A	LQTS tipo 3 · LQTS congenita isolata correlata a SCN5A
nl	SCN5A-gerelateerd geïsoleerd congenitaal lang-QT-syndroom	LQTS type 3 · SCN5A-gerelateerd geïsoleerd congenitaal LQTS
pt	SCN5A-related isolated congenital Long QT syndrome
pl	SCN5A-related isolated congenital long QT syndrome	= en
cs	SCN5A-related isolated congenital long QT syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	603830	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
SCN5A	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:10593	ENSG00000183873	600163	3p22.2	sodium voltage-gated channel alpha subunit 5	20301308[PMID]_24093767[PMID]

0 records

No prevalence record in this release.

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