Dilated cardiomyopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 0 |
| OrphanetNr: | 217604 |
| OMIM Id: |
|
| ICD-10: |
I42.0 |
| UMLs: |
C0007193 |
| MeSH: |
D002311 |
| MedDRA: |
10056370 |
| Snomed: |
195021004 399020009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cardiomyopathy
-Rare cardiac 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 |
|---|---|---|---|
| DES | rs62636491 | likely pathogenic | RCV000171830.1 |
| DSG2 | rs200830807 | likely pathogenic | RCV000171834.1 |
| MYH7 | rs201865159 | likely pathogenic | RCV000171838.1 |
| PLN | rs111033560 | pathogenic | RCV000171826.1 |
| SCN5A | rs137854607 | pathogenic | RCV000058706.2 |
| SCN5A | rs199473161 | pathogenic | RCV000058500.2 |
| SCN5A | rs199473337 | likely pathogenic | RCV000058823.2 |
| SCN5A | rs199473341 | pathogenic | RCV000058606.2 |
| SCN5A | rs199473642 | pathogenic | RCV000058689.2 |
| TTN | rs786205398 | likely pathogenic | RCV000171846.1 |
| VCL | rs397517237 | likely pathogenic | RCV000171847.1 |