MITRAL VALVE PROLAPSE, MYXOMATOUS 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYXOMATOUS MITRAL VALVE PROLAPSE 3 MMVP3 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
610840
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0001653) | Mitral regurgitation | 64 / 7739 | ||||
|
|
(HPO:0001634) | Mitral valve prolapse | 69 / 7739 | ||||
|
|
(HPO:0003831) | Age-dependent penetrance | 4 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Mitral valve prolapse (MVP) is a common disorder characterized by histologic 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 | Nesta et al. (2005) studied a family in which multiple members in 3 generations had echocardiographic findings consistent with MVP. By clinical evaluation, Marfan syndrome and other connective tissue disorders were excluded. |