VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3

General Information (adopted from Orphanet):

Synonyms, Signs: CPVT3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614021
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001279) Syncope 94 / 7739
2
(HPO:0004756) Ventricular tachycardia 55 / 7739
3
(OMIM) Polymorphic ventricular tachycardia induced by physical activity 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Borderline prolonged QT interval 1 / 7739
6
(HPO:0001699) Sudden death 34 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bhuiyan et al. (2007) studied a large consanguineous family of Sudanese origin in which 3 sibs died suddenly during physical activity. The first death occurred in a 10-year-old girl who died while playing in a fun park; no ...