raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:727156

CACNA1C-related isolated congenital Long QT syndrome

Synonyms: CACNA1C-related isolated congenital LQTS · LQTS type 8

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
enCACNA1C-related isolated congenital Long QT syndromeCACNA1C-related isolated congenital LQTS · LQTS type 8
frSyndrome du QT long congénital isolé associé à CACNA1CLQTS type 8 · LQTS congénital isolé associé à CACNA1C
deCACNA1C-assoziiertes isoliertes kongenitales Long-QT-SyndromLong-QT-Syndrom Typ 8
esSíndrome de QT largo congénito aislado asociado al gen CACNA1CSQTL aislado congénito asociado al gen CACNA1C · SQTL tipo 8
itSindrome del QT lungo congenita isolata correlata a CACNA1CLQTS tipo 8 · LQTS congenita isolata correlata a CACNA1C
nlCACNA1C-gerelateerd geïsoleerd congenitaal lang-QT-syndroomLQTS type 8 · CACNA1C-gerelateerd geïsoleerd congenitaal LQTS
ptCACNA1C-related isolated congenital Long QT syndrome
plCACNA1C-related isolated congenital Long QT syndrome= en
csCACNA1C-related isolated congenital Long QT syndrome= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM618447Evalidated

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
CACNA1CDisease-causing germline mutation(s) inAssessedHGNC:1390ENSG0000015106711420512p13.33calcium voltage-gated channel subunit alpha1 C23677916[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