Disorder "Arrhythmogenic right ventricular cardiomyopathy"
Found 1 record
Disorder information
Disorder name:
Arrhythmogenic right ventricular cardiomyopathy
Disoder ID:
OMIM entry:
Synonyms:
ARVC, ARVD, arrhythmogenic right ventricular dysplasia/cardiomyopathy, arrhythmogenic right ventricular dysplasia, ARVC cardiomyopathy
Definition:
An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| DES | DES:rs201945924 | Expressivity | Risk factor | P<0.05 | The polymorphism can be considered a rare variant with a possible modifier effect on the phenotypic expression of the concomitant mutation.more | more |
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