Arrhythmogenic right ventricular cardiomyopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ARVC ARVD Arrhythmogenic right ventricular displasia |
| Number of Symptoms | 0 |
| OrphanetNr: | 247 |
| OMIM Id: |
|
| ICD-10: |
I42.8 |
| UMLs: |
C0349788 |
| MeSH: |
D019571 |
| MedDRA: |
10058093 |
| Snomed: |
253528005 281170005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 43.5 |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cardiomyopathy
-Rare cardiac disease Rare genetic cardiac disease -Rare genetic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| DSG2 | rs200484060 | likely pathogenic | RCV000171833.2 |