ORPHA:730618
RYR2-related catecholaminergic polymorphic ventricular tachycardia
Synonyms: RYR2-related CPVT · RYR2-related malignant paroxysmal ventricular tachycardia · RYR2-related polymorphic ventricular tachycardia induced by catecholamines · CPVT1 · RYR2-related bidirectional ventricular tachycardia induced by catecholamine
- 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 | RYR2-related catecholaminergic polymorphic ventricular tachycardia | RYR2-related CPVT · RYR2-related malignant paroxysmal ventricular tachycardia · RYR2-related polymorphic ventricular tachycardia induced by catecholamines · CPVT1 · RYR2-related bidirectional ventricular tachycardia induced by catecholamine |
| fr | Tachycardie ventriculaire polymorphe catécholaminergique associée à RYR2 | TVPC associée à RYR2 · Tachycardie ventriculaire polymorphe induite par les catécholamines associée à RYR2 · Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée à RYR2 · Tachycardie ventriculaire paroxystique maligne associée à RYR2 |
| de | RYR2-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie | RYR2-assoziierte CPVT · RYR2-assoziierte maligne paroxysmale ventrikuläre Tachykardie · CPVT1 · RYR2-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie · RYR2-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie |
| es | Taquicardia ventricular polimórfica catecolaminérgica asociada al gen RYR2 | CPVT asociada a RYR2 · CPVT1 · Taquicardia ventricular bidireccional asociada al gen RYR2 inducida por catecolaminas · Taquicardia ventricular paroxística maligna asociada al gen RYR2 · Taquicardia ventricular polimórfica asociada al gen RYR2 inducida por catecolaminas · TVPC asociada a RYR2 · TVPC1 |
| it | Tachicardia ventricolare polimorfa catecolaminergica correlata a RYR2 | CPVT correlata a RYR2 · Tachicardia ventricolare parossistica maligna correlata a RYR2 · Tachicardia ventricolare polimorfa correlata a RYR2 indotta dalle catecolamine · Tachicardia ventricolare bidirezionale correlata a RYR2 indotta dalle catecolamine · CPVT1 |
| nl | RYR2-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie | CPVT1 · RYR2-gerelateerde CPVT · RYR2-gerelateerde maligne paroxismale ventriculaire tachycardie · RYR2-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen · RYR2-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine |
| pt | RYR2-related catecholaminergic polymorphic ventricular tachycardia | |
| pl | RYR2-related catecholaminergic polymorphic ventricular tachycardia | = en |
| cs | RYR2-related catecholaminergic polymorphic ventricular tachycardia | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604772 | E | 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:3286Catecholaminergic polymorphic ventricular tachycardia
rare cardiac diseases; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10484 | ENSG00000198626 | 180902 | 1q43 | ryanodine receptor 2 | 20301466[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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/730618
- This record as JSON: /data/d/730618.json