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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
3 signs/symptoms
Severe congenital nemaline myopathy
Catecholaminergic polymorphic ventricular tachycardia

ACTA1 CALM1
KLHL40 CASQ2
KLHL41 RYR2
NEB TRDN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEB
(0.56)
CALM1



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Catecholaminergic polymorphic ventricular tachycardia
CALM1 CASQ2 RYR2 TRDN



Severe congenital nemaline myopathy
Catecholaminergic polymorphic ventricular tachycardia

Synonym(s):
(no synonyms)

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 genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
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:
No OMIM references
No MeSH references
External references:
5 OMIM references -
No MeSH references

Catecholaminergic polymorphic ventricular tachycardia

Very frequent
- Cardiac rhythm disorder / arrhythmia

Frequent
- Dizziness

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest


Severe congenital nemaline myopathy

(no data available)