ORPHA:730644
TECRL-related catecholaminergic polymorphic ventricular tachycardia
Synonyms: TECRL-related CPVT · TECRL-related malignant paroxysmal ventricular tachycardia · TECRL-related polymorphic ventricular tachycardia induced by catecholamines · TECRL-related bidirectional ventricular tachycardia induced by catecholamine · CPVT3
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TECRL-related catecholaminergic polymorphic ventricular tachycardia | TECRL-related CPVT · TECRL-related malignant paroxysmal ventricular tachycardia · TECRL-related polymorphic ventricular tachycardia induced by catecholamines · TECRL-related bidirectional ventricular tachycardia induced by catecholamine · CPVT3 |
| fr | Tachycardie ventriculaire polymorphe catécholaminergique associée à TECRL | TVPC associée à TECRL · Tachycardie ventriculaire polymorphe induite par les catécholamines associée à TECRL · Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée à TECRL · Tachycardie ventriculaire paroxystique maligne associée à TECRL |
| de | TECRL-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie | CPVT3 · TECRL-assoziierte CPVT · TECRL-assoziierte maligne paroxysmale ventrikuläre Tachykardie · TECRL-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie · TECRL-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie |
| es | Taquicardia ventricular polimórfica catecolaminérgica asociada al gen TECRL | CPVT asociada a TECRL · CPVT3 · Taquicardia ventricular bidireccional asociada al gen TECRL inducida por catecolaminas · Taquicardia ventricular paroxística maligna asociada al gen TECRL · Taquicardia ventricular polimórfica asociada al gen TECRL inducida por catecolaminas · TVPC asociada a TECRL · TVPC3 |
| it | Tachicardia ventricolare polimorfa catecolaminergica correlata a TECRL | CPVT3 · CPVT correlata a TECRL · Tachicardia ventricolare parossistica maligna correlata a TECRL · Tachicardia ventricolare polimorfa correlata a TECRL indotta dalle catecolamine · Tachicardia ventricolare bidirezionale correlata a TECRL indotta dalle catecolamine |
| nl | TECRL-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie | CPVT3 · TECRL-gerelateerde CPVT · TECRL-gerelateerde maligne paroxismale ventriculaire tachycardie · TECRL-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen · TECRL-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine |
| pt | TECRL-related catecholaminergic polymorphic ventricular tachycardia | |
| pl | TECRL-related catecholaminergic polymorphic ventricular tachycardia | = en |
| cs | TECRL-related catecholaminergic polymorphic ventricular tachycardia | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614021 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:3286Catecholaminergic polymorphic ventricular tachycardia
rare cardiac diseases; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TECRL | Disease-causing germline mutation(s) in | Assessed | HGNC:27365 | ENSG00000205678 | 617242 | 4q13.1 | trans-2,3-enoyl-CoA reductase like | 27861123[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730644
- This record as JSON: /data/d/730644.json