ORPHA:668
Osteosarcoma
Synonyms: Osteogenic sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteosarcoma | Osteogenic sarcoma |
| fr | Ostéosarcome | Sarcome ostéogène |
| de | Osteosarkom | Osteogenes Sarkom |
| es | Osteosarcoma | Sarcoma osteógeno |
| it | Osteosarcoma | Sarcoma osteogenico |
| nl | Osteosarcoom | Osteogeen sarcoom |
| pt | Osteossarcoma | Sarcoma osteogénico |
| pl | Kostniakomięsak | Mięsak kościopochodny |
| cs | Osteosarkom | Osteogenický sarkom |
| uk | Остеосаркома | Остеогенна саркома |
| zh | 骨肉瘤 | 成骨性肉瘤 |
| tr | Osteosarkom | Osteojenik sarkom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259500 | E | validated | |
| ICD-10 | C41.9 | NTBT | index | validated |
| ICD-11 | 2B51 | E | specific | validated |
| ICD-11 | 2B51.0 | BTNT | specific | validated |
| ICD-11 | 2B51.1 | BTNT | specific | validated |
| ICD-11 | 2B51.2 | BTNT | specific | validated |
| ICD-11 | 2B51.Y | BTNT | attributed | validated |
| MONDO | 0002629 | E | validated | |
| MeSH | D012516 | E | validated | |
| UMLS | C0029463 | E | validated | |
| GARD | 7284 | E | validated | |
| MedDRA | 10031291 | 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:223727Bone sarcoma
rare bone diseases; rare neoplastic diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHEK2 | Candidate gene tested in | Not yet assessed | HGNC:16627 | ENSG00000183765 | 604373 | 22q12.1 | checkpoint kinase 2 | 11746983[PMID] |
| RB1 | Candidate gene tested in | Assessed | HGNC:9884 | ENSG00000139687 | 614041 | 13q14.2 | RB transcriptional corepressor 1 | 11449317[PMID] |
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 2823272[PMID]_1349175[PMID]_8401536[PMID] |
| TP53 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 8401536[PMID]_2823272[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.23 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Lifetime Prevalence | 1-9 / 100 000 | 3.17 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | United States | Value and class | Validated | 19197972[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.
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HPO phenotypes
12 annotations · validated 2017-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006489 | Abnormality of the femoral metaphysis | |
| HP:0002797 | Osteolysis | |
| Frequent (79-30%) | ||
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0006491 | Abnormality of the tibial metaphysis | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001386 | Joint swelling | |
| HP:0012531 | Pain | |
| Very rare (<4-1%) | ||
| HP:0001945 | Fever | |
| HP:0002756 | Pathologic fracture | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21317869[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/668
- This record as JSON: /data/d/668.json