MITRAL VALVE PROLAPSE, MYXOMATOUS 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYXOMATOUS MITRAL VALVE PROLAPSE 2 MMVP2 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
607829
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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 inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001653) | Mitral regurgitation | 64 / 7739 | ||||
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(HPO:0001634) | Mitral valve prolapse | 69 / 7739 | ||||
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(HPO:0003831) | Age-dependent penetrance | 4 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Mitral valve prolapse (MVP) is a common disorder characterized by systolic displacement or billowing of the mitral leaflets into the left atrium, often accompanied by mitral regurgitation. For a general phenotypic description and a discussion of genetic heterogeneity ... |
| Clinical Description OMIM | Freed et al. (2003) examined a large 5-generation family in which at least 12 members had mitral valve prolapse with no extracardiac manifestations of connective tissue abnormalities or Marfan syndrome (154700). |