ORPHA:730657

Calmodulin-related catecholaminergic polymorphic ventricular tachycardia

Synonyms: Calmodulin-related CPVT · Calmodulin-related malignant paroxysmal ventricular tachycardia · Calmodulin-related polymorphic ventricular tachycardia induced by catecholamines · Calmodulin-related bidirectional ventricular tachycardia induced by catecholamines

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Calmodulin-related catecholaminergic polymorphic ventricular tachycardia	Calmodulin-related CPVT · Calmodulin-related malignant paroxysmal ventricular tachycardia · Calmodulin-related polymorphic ventricular tachycardia induced by catecholamines · Calmodulin-related bidirectional ventricular tachycardia induced by catecholamines
fr	Tachycardie ventriculaire polymorphe catécholaminergique associée aux calmodulines	TVPC associée aux calmodulines · Tachycardie ventriculaire polymorphe induite par les catécholamines associée aux calmodulines · Tachycardie ventriculaire bidirectionnelle induite par les catécholamines associée aux calmodulines · Tachycardie ventriculaire paroxystique maligne associée aux calmodulines
de	Calmodulin-assoziierte katecholaminerge polymorphe ventrikuläre Tachykardie	Calmodulin-assoziierte CPVT · Calmodulin-assoziierte maligne paroxysmale ventrikuläre Tachykardie · Calmodulin-assoziierte durch Katecholamine induzierte polymorphe ventrikuläre Tachykardie · Calmodulin-assoziierte durch Katecholamine ausgelöste bidirektionale ventrikuläre Tachykardie
es	Taquicardia ventricular polimórfica catecolaminérgica asociada a la calmodulina	CPVT asociada a la calmodulina · Taquicardia ventricular bidireccional asociada a la calmodulina inducida por catecolaminas · Taquicardia ventricular paroxística maligna asociada a la calmodulina · Taquicardia ventricular polimórfica asociada a la calmodulina inducida por catecolaminas · TVPC asociada a la calmodulina
it	Tachicardia ventricolare polimorfa catecolaminergica correlata alla calmodulina	CPVT correlata alla calmodulina · Tachicardia ventricolare parossistica maligna correlata alla calmodulina · Tachicardia ventricolare polimorfa correlata alla calmodulina indotta dalle catecolamine · Tachicardia ventricolare bidirezionale correlata alla calmodulina indotta dalle catecolamine
nl	Calmoduline-gerelateerde catecholaminerge polymorfe ventriculaire tachycardie	Calmoduline-gerelateerde CPVT · Calmoduline-gerelateerde maligne paroxismale ventriculaire tachycardie · Calmoduline-gerelateerde polymorfe ventriculaire tachycardie geïnduceerd door catecholaminen · Calmoduline-gerelateerde bidirectionele ventriculaire tachycardie geïnduceerd door catecholamine
pt	Calmodulin-related catecholaminergic polymorphic ventricular tachycardia
pl	Calmodulin-related catecholaminergic polymorphic ventricular tachycardia	= en
cs	Calmodulin-related catecholaminergic polymorphic ventricular tachycardia	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614916	BTNT		validated
OMIM	618782	NTBT		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97929Rare cardiac disease

Parents in the classifications (1):

ORPHA:3286Catecholaminergic polymorphic ventricular tachycardia
rare cardiac diseases; rare genetic diseases

No children.

Genes

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CALM1	Disease-causing germline mutation(s) in	Assessed	HGNC:1442	ENSG00000198668	114180	14q32.11	calmodulin 1	23040497[PMID]_20301466[PMID]
CALM2	Disease-causing germline mutation(s) in	Assessed	HGNC:1445	ENSG00000143933	114182	2p21	calmodulin 2	24917665[PMID]_37528649[PMID]
CALM3	Disease-causing germline mutation(s) in	Assessed	HGNC:1449	ENSG00000160014	114183	19q13.32	calmodulin 3	37528649[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/730657
This record as JSON: /data/d/730657.json