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Catecholaminergic polymorphic ventricular tachycardia

5 OMIM references -
4 associated genes
222 connected diseases
3 signs/symptoms

Disease	Type of connection
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Romano-Ward syndrome
Familial isolated dilated cardiomyopathy
Autosomal dominant centronuclear myopathy
Brugada syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Benign Samaritan congenital myopathy
Central core disease
Congenital multicore myopathy with external ophthalmoplegia
King-Denborough syndrome
Malignant hyperthermia
Moderate multiminicore disease with hand involvement
Familial atrial fibrillation
Timothy syndrome
Benign familial infantile seizures
Benign familial neonatal seizures
Senior-Loken syndrome
Autosomal dominant nonsyndromic intellectual deficit
Giant cell glioblastoma
Gliosarcoma
Young adult-onset Parkinsonism
Juvenile myelomonocytic leukemia
Noonan syndrome
Pilocytic astrocytoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
MODY syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Amyotrophic lateral sclerosis
Jervell and Lange-Nielsen syndrome
Digitotalar dysmorphism
Atrial stand still
Familial progressive cardiac conduction defect
Familial sick sinus syndrome
Idiopathic ventricular fibrillation, not Brugada type
Familial thoracic aortic aneurysm and aortic dissection
Leber congenital amaurosis
Bleeding diathesis due to glycoprotein VI deficiency
Parkinsonian-pyramidal syndrome
Cardiofaciocutaneous syndrome
Costello syndrome
Familial pancreatic carcinoma
Hereditary nonpolyposis colon cancer
Linear nevus sebaceus syndrome
Fuchs endothelial corneal dystrophy
Microcephalic osteodysplastic primordial dwarfism type 2
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Seckel syndrome
Anaplastic ependymoma
Benign familial neonatal-infantile seizures
Early infantile epileptic encephalopathy
Juvenile myoclonic epilepsy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Myoclonus-dystonia syndrome
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Lymphangioleiomyomatosis
Tuberous sclerosis
Autosomal agammaglobulinemia
Hyperinsulinism due to HNF1A deficiency
Precursor B-cell acute lymphoblastic leukemia
Acute encephalopathy with biphasic seizures and late reduced diffusion
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Dedifferentiated liposarcoma
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Usher syndrome type 1
Well-differentiated liposarcoma
Congenital analbuminemia
Infantile autosomal recessive medullary cystic kidney disease
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant hypohidrotic ectodermal dysplasia
Burkitt lymphoma
Common variable immunodeficiency
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Herpetic encephalitis
Idiopathic bronchiectasis
Incontinentia pigmenti
Intermittent hydrarthrosis
Male infertility with normal virilization due to meiosis defect
TRAPS syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autoimmune lymphoproliferative syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Acetazolamide-responsive myotonia
Familial isolated congenital asplenia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Myotonia fluctuans
Myotonia permanens
Paramyotonia congenita of Von Eulenburg
Postsynaptic congenital myasthenic syndromes
Pseudohypoaldosteronism type 2E
Cataract with Y-shaped suture opacities
Cerulean cataract
Nuclear cataract
Total congenital cataract
Zonular cataract
Cowden syndrome
Proteus syndrome
X-linked non-syndromic intellectual deficit
Attenuated ChÃ©diak-Higashi syndrome
ChÃ©diak-Higashi syndrome
Glucocorticoid resistance
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Alternating hemiplegia of childhood
Angelman syndrome
Benign paroxysmal torticollis of infancy
Budd-Chiari syndrome
Cabezas syndrome
Chuvash erythrocytosis
Craniometaphyseal dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Essential thrombocythemia
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Familial thrombocytosis
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hypoplastic left heart syndrome
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
LEOPARD syndrome
Muscle filaminopathy
Myelofibrosis with myeloid metaplasia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Pediatric systemic lupus erythematosus
Phosphoenolpyruvate carboxykinase 1 deficiency
Polycythemia vera
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Short stature due to growth hormone qualitative anomaly
Spinocerebellar ataxia type 6
Syndactyly type 3
Von Hippel-Lindau disease
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Enchondromatosis
Metaphyseal chondrodysplasia, Jansen type
Estrogen resistance syndrome
Acute necrotizing encephalopathy of childhood
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive spastic paraplegia type 45
Carpenter-Waziri syndrome
Childhood-onset nemaline myopathy
Chudley-Lowry-Hoar syndrome
Developmental delay with autism spectrum disorder and gait instability
Distal myopathy with vocal cord weakness
Familial acute necrotizing encephalopathy
Holmes-Gang syndrome
ICF syndrome
Inflammatory myofibroblastic tumor
Intellectual deficit, X-linked, Turner type
Intermediate nemaline myopathy
Juberg-Marsidi syndrome
Junctional epidermolysis bullosa - pyloric atresia
Lethal congenital contracture syndrome type 3
Medium chain acyl-CoA dehydrogenase deficiency
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Severe congenital nemaline myopathy
Smith-Fineman-Myers syndrome
Spinocerebellar ataxia type 12
Syndromic X-linked intellectual deficit due to JARID1C mutation
Typical nemaline myopathy
Williams syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Autosomal dominant congenital benign spinal muscular atrophy
Familial digital arthropathy-brachydactyly
Familial short QT syndrome
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
B-cell chronic lymphocytic leukemia
Congenital stationary night blindness
Leukonychia totalis
Mantle cell lymphoma
Multiple myeloma
Oguchi disease
Sheldon-Hall syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia

Synonym(s): - Bidirectional tachycardia - Bidirectional tachycardia induced by catecholamine - CPVT - Double tachycardia induced by catecholamines - Malignant paroxysmal ventricular tachycardia - Multifocal ventricular premature beats - Paroxysmal ventricular fibrillation - Syncopal paroxysmal tachycardia - Syncopal tachyarythmia

Classification (Orphanet): - Rare cardiac disease - Rare genetic disease		Classification (ICD10): - Diseases of the circulatory system -

Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant		External references: 5 OMIM references - No MeSH references

Gene symbol	UniProt reference	OMIM reference
CALM1	P62158	114180
CASQ2	O14958	114251
RYR2	Q92736	180902
TRDN	Q13061	603283

Very frequent

- Cardiac rhythm disorder / arrhythmia

Frequent

- Dizziness

Occasional

- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest