ORPHA:741
Familial mitral valve prolapse
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial mitral valve prolapse | |
| fr | Prolapsus valvulaire mitral familial | |
| de | Mitralklappenprolaps, familiärer | |
| es | Prolapso valvular mitral familiar | |
| it | Prolasso familiare della valvola mitrale | |
| nl | Familiale mitralisklepprolaps | |
| pt | Prolapso da válvula mitral familiar | |
| pl | Rodzinne wypadanie płatka zastawki mitralnej | |
| cs | Familiární prolaps mitrální chlopně | |
| uk | Сімейний пролапс мітрального клапана | |
| zh | 家族性二尖瓣脱垂 | |
| tr | Ailesel mitral kapak prolapsusu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 157700 | E | validated | |
| OMIM | 607829 | BTNT | validated | |
| OMIM | 610840 | BTNT | validated | |
| ICD-10 | I34.1 | NTBT | attributed | validated |
| ICD-11 | LA87.1Y | NTBT | attributed | validated |
| MONDO | 0008004 | E | validated | |
| UMLS | C0340364 | E | validated | |
| GARD | 3687 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:95464Congenital mitral valve insufficiency and/or stenosis
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:271853Genetic cardiac anomaly
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCHS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13681 | ENSG00000166341 | 603057 | 11p15.4 | dachsous cadherin-related 1 | 26258302[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/741
- This record as JSON: /data/d/741.json