ORPHA:730631
CASQ2-related catecholaminergic polymorphic ventricular tachycardia
Synonyms: CASQ2-related CPVT · CASQ2-related malignant paroxysmal ventricular tachycardia · CASQ2-related polymorphic ventricular tachycardia induced by catecholamines · CASQ2-related bidirectional ventricular tachycardia induced by catecholamine · CPVT2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CASQ2-related catecholaminergic polymorphic ventricular tachycardia | CASQ2-related CPVT · CASQ2-related malignant paroxysmal ventricular tachycardia · CASQ2-related polymorphic ventricular tachycardia induced by catecholamines · CASQ2-related bidirectional ventricular tachycardia induced by catecholamine · CPVT2 |
| fr | Tachycardie ventriculaire polymorphe catécholaminergique associée à CASQ2 | TVPC associée à CASQ2 · Tachycardie ventriculaire polymorphe induite par les catécholamines associée à CASQ2 · Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée à CASQ2 · Tachycardie ventriculaire paroxystique maligne associée à CASQ2 |
| de | CASQ2-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie | CASQ2-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie · CASQ2-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie · CASQ2-assoziierte CPVT · CASQ2-assoziierte maligne paroxysmale ventrikuläre Tachykardie · CPVT2 |
| es | Taquicardia ventricular polimórfica catecolaminérgica asociada al gen CASQ2 | CPVT asociada a CASQ2 · CPVT2 · Taquicardia ventricular bidireccional asociada al gen CASQ2 inducida por catecolaminas · Taquicardia ventricular paroxística maligna asociada al gen CASQ2 · Taquicardia ventricular polimórfica asociada al gen CASQ2 inducida por catecolaminas · TVPC asociada a CASQ2 · TVPC2 |
| it | Tachicardia ventricolare polimorfa catecolaminergica correlata a CASQ2 | CPVT2 · CPVT correlata a CASQ2 · Tachicardia ventricolare parossistica maligna correlata a CASQ2 · Tachicardia ventricolare polimorfa correlata a CASQ2 indotta dalle catecolamine · Tachicardia ventricolare bidirezionale correlata a CASQ2 indotta dalle catecolamine |
| nl | CASQ2-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie | CPVT2 · CASQ2-gerelateerde CPVT · CASQ2-gerelateerde maligne paroxismale ventriculaire tachycardie · CASQ2-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen · CASQ2-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine |
| pt | CASQ2-related catecholaminergic polymorphic ventricular tachycardia | |
| pl | CASQ2-related catecholaminergic polymorphic ventricular tachycardia | = en |
| cs | CASQ2-related catecholaminergic polymorphic ventricular tachycardia | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611938 | 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 |
|---|---|---|---|---|---|---|---|---|
| CASQ2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1513 | ENSG00000118729 | 114251 | 1p13.1 | calsequestrin 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/730631
- This record as JSON: /data/d/730631.json