ORPHA:727163
TRDN-related isolated congenital long QT syndrome
Synonyms: TRDN-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| Lang | Name | Synonyms |
|---|---|---|
| en | TRDN-related isolated congenital long QT syndrome | TRDN-related isolated congenital LQTS |
| fr | Syndrome du QT long congénital isolé associé à TRDN | LQTS congénital isolé associé à TRDN |
| de | TRDN-assoziiertes isoliertes kongenitales Long-QT-Syndrom | |
| es | Síndrome de QT largo congénito aislado asociado al gen TRDN | SQTL aislado asociado al gen TRDN |
| it | Sindrome del QT lungo congenita isolata correlata a TRDN | LQTS congenita isolata correlata a TRDN |
| nl | TRDN-gerelateerd geïsoleerd congenitaal lang-QT-syndroom | TRDN-gerelateerd geïsoleerd congenitaal LQTS |
| pt | TRDN-related isolated congenital Long QT syndrome | |
| pl | TRDN-related isolated congenital long QT syndrome | = en |
| cs | TRDN-related isolated congenital long QT syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615441 | NTBT | validated |
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):
- ORPHA:101016Isolated congenital long QT syndrome
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRDN | Disease-causing germline mutation(s) in | Assessed | HGNC:12261 | ENSG00000186439 | 603283 | 6q22.31 | triadin | 25922419[PMID]_27807201[PMID]_27041150[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727163
- This record as JSON: /data/d/727163.json