Cardiomyopathy, dilated, 1I
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMD1I |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
604765
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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: |
Autosomal dominant Monogenic 10430757 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial isolated dilated cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| Cardiomyopathy, dilated, 1I is caused by mutations in DES. |
Symptom Information:
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(HPO:0012663) | Mildly reduced ejection fraction | 10430757 | IBIS | 4 / 7739 | ||
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(HPO:0001635) | Congestive heart failure | 10430757 | IBIS | 232 / 7739 | ||
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(HPO:0001640) | Cardiomegaly | 10430757 | IBIS | 81 / 7739 | ||
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(HPO:0001644) | Dilated cardiomyopathy | 10430757 | IBIS | 141 / 7739 | ||
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(HPO:0006673) | Reduced systolic function | 10430757 | IBIS | 11 / 7739 |
Associated genes:
| DES; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| DES | rs121913002 | pathogenic | RCV000018318.28 |
| DES | rs62636495 | pathogenic | RCV000037240.2 |
Additional Information:
| Molecular genetics OMIM |
Li et al. (1999) used a candidate gene approach to identify genetic defects in 44 unrelated probands with autosomal dominant dilated cardiomyopathy. In 1 family with pure cardiomyopathy without skeletal myopathy (CMD1I), they identified a heterozygous ile451-to-met substitution ... |