Familial atrial myxoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial atrial myxoma | |
| fr | Myxome auriculaire | |
| de | Myxom, atriales familiäres | |
| es | Mixoma auricular familiar | |
| it | Mixoma atriale familiare | |
| nl | Familiaal atriummyxoom | |
| pt | Mixoma auricular familiar | |
| pl | Rodzinny śluzak przedsionka | |
| cs | Familiární atriální myxom | |
| uk | Сімейна міксома передсердь | |
| zh | 家族性心房粘液瘤 | |
| tr | Ailesel atriyal miksoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255960 | E | validated | |
| ICD-10 | D15.1 | NTBT | attributed | validated |
| ICD-11 | 2F01 | NTBT | index | validated |
| MONDO | 0009719 | E | validated | |
| MeSH | C538262 | E | validated | |
| UMLS | C1850635 | E | validated | |
| GARD | 139 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:271841Genetic cardiac tumor
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:168194Rare cardiac tumor
rare cardiac diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKAR1A | Disease-causing germline mutation(s) in | Assessed | HGNC:9388 | ENSG00000108946 | 188830 | 17q24.2 | protein kinase cAMP-dependent type I regulatory subunit alpha | 10973256[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 families | Worldwide | Family(ies) | Validated | 1540058[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1540058[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2017-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011672 | Cardiac myxoma | |
| Very frequent (99-80%) | ||
| HP:0030148 | Heart murmur | |
| HP:0006691 | Pulmonic valve myxoma | |
| Frequent (79-30%) | ||
| HP:0003388 | Easy fatigability | |
| HP:0002875 | Exertional dyspnea | |
| Occasional (29-5%) | ||
| HP:0001541 | Ascites | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0001640 | Cardiomegaly | |
| HP:0100749 | Chest pain | |
| HP:0001396 | Cholestasis | |
| HP:0001635 | Congestive heart failure | |
| HP:0001945 | Fever | |
| HP:0000952 | Jaundice | |
| HP:0010741 | Pedal edema | |
| HP:0001907 | Thromboembolism | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0002617 | Dilatation | |
| HP:0004944 | Dilatation of the cerebral artery | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9066386[PMID]_1540058[PMID]_686891[PMID]_1180432[PMID]_5115867[PMID]_4725591[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/615
- This record as JSON: /data/d/615.json