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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
3 signs/symptoms
Autosomal dominant brachyolmia
Catecholaminergic polymorphic ventricular tachycardia

TRPV4 CALM1
CASQ2
RYR2
TRDN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRPV4
(0.55)
CALM1



Citations in the biomedical literature:


Autosomal dominant brachyolmia
TRPV4
Catecholaminergic polymorphic ventricular tachycardia
CALM1 CASQ2 RYR2 TRDN



Autosomal dominant brachyolmia
Catecholaminergic polymorphic ventricular tachycardia

Synonym(s):
- Brachyolmia type 3

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references

Autosomal dominant brachyolmia
Catecholaminergic polymorphic ventricular tachycardia

Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Kyphosis
- Platyspondyly
- Scoliosis
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Occasional
- Metaphyseal anomaly


Very frequent
- Cardiac rhythm disorder / arrhythmia

Frequent
- Dizziness

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