ORPHA:319
Skeletal Ewing sarcoma
Synonyms: Osseous Ewing sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Skeletal Ewing sarcoma | Osseous Ewing sarcoma |
| fr | Sarcome d'Ewing squelettique | Sarcome d'Ewing osseux |
| de | Ewing-Sarkom, skelettales | Ossäres Ewing-Sarkom |
| es | Sarcoma de Ewing esquelético | Sarcoma de Ewing óseo |
| it | Sarcoma di Ewing | |
| nl | Skeletaal Ewing-sarcoom | Ossaal Ewing-sarcoom |
| pt | Sarcoma de Ewing | |
| pl | Mięsak Ewinga | = en |
| cs | Ewingův sarkom | = en |
| uk | Скелетна саркома Юінга | Кісткова саркома Юінга |
| zh | 骨骼尤文氏肉瘤 | 骨性尤因肉瘤 |
| tr | İskelet Ewing sarkomu | Osseöz Ewing sarkomu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612219 | E | validated | |
| ICD-10 | C40.0 | NTBT | attributed | validated |
| ICD-10 | C40.1 | NTBT | attributed | validated |
| ICD-10 | C40.2 | NTBT | attributed | validated |
| ICD-10 | C40.3 | NTBT | attributed | validated |
| ICD-10 | C41.2 | NTBT | attributed | validated |
| ICD-10 | C41.3 | NTBT | attributed | validated |
| ICD-10 | C41.4 | NTBT | attributed | validated |
| ICD-11 | 2B52.0 | NTBT | attributed | validated |
| ICD-11 | 2B52.1 | NTBT | attributed | validated |
| ICD-11 | 2B52.2 | NTBT | attributed | validated |
| ICD-11 | 2B52.Y | NTBT | attributed | validated |
| MONDO | 0012817 | E | validated | |
| UMLS | C0585474 | E | validated | |
| GARD | 6390 | E | validated | |
| MedDRA | 10015560 | 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 (1):
- ORPHA:223727Bone sarcoma
rare bone diseases; rare neoplastic diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERG | Part of a fusion gene in | Assessed | HGNC:3446 | ENSG00000157554 | 165080 | 21q22.2 | ETS transcription factor ERG | |
| ETV1 | Part of a fusion gene in | Assessed | HGNC:3490 | ENSG00000006468 | 600541 | 7p21.2 | ETS variant transcription factor 1 | |
| ETV4 | Part of a fusion gene in | Assessed | HGNC:3493 | ENSG00000175832 | 600711 | 17q21.31 | ETS variant transcription factor 4 | |
| EWSR1 | Part of a fusion gene in | Assessed | HGNC:3508 | ENSG00000182944 | 133450 | 22q12.2 | EWS RNA binding protein 1 | |
| FLI1 | Part of a fusion gene in | Assessed | HGNC:3749 | ENSG00000151702 | 193067 | 11q24.3 | Fli-1 proto-oncogene, ETS transcription factor |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 100 000 | 2.33 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/319
- This record as JSON: /data/d/319.json