Cardiomyopathy, dilated, 1BB
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMD1BB |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
612877
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Monogenic 18678517 [IBIS] |
| Age of onset: |
Adult 18678517 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial isolated dilated cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| Cardiomyopathy, dilated, 1BB is caused by mutations in DSG2 (PMID:18678517). |
Symptom Information:
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(HPO:0012664) | Reduced ejection fraction | 18678517 | IBIS | 32 / 7739 | ||
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(HPO:0001644) | Dilated cardiomyopathy | 18678517 | IBIS | 141 / 7739 | ||
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(HPO:0005110) | Atrial fibrillation | 18678517 | IBIS | 71 / 7739 | ||
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(HPO:0001635) | Congestive heart failure | 18678517 | IBIS | 232 / 7739 | ||
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(HPO:0002094) | Dyspnea | 18678517 | IBIS | 132 / 7739 |
Associated genes:
| DSG2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
In a man with dilated cardiomyopathy who had severely decreased cardiac function and underwent cardiac transplantation at 44 years of age, Posch et al. (2008) identified homozygosity for the V55M mutation in the DSG2 gene (125671.0009). The proband's ... |