Osteosarcoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OSTEOSARCOMA OSRC Osteogenic sarcoma |
| Number of Symptoms | 8 |
| OrphanetNr: | 668 |
| OMIM Id: |
259500
|
| ICD-10: |
C40 C41 |
| UMLs: |
C0029463 |
| MeSH: |
D012516 |
| MedDRA: |
10031291 |
| Snomed: |
21708004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 5 of 100 000 [Orphanet] |
| Inheritance: |
|
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bone sarcoma
-Rare bone disease -Rare oncologic disease |
Symptom Information:
|
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(HPO:0009919) | Retinoblastoma | 3 / 7739 | ||||
|
|
(HPO:0002669) | Osteosarcoma | 12 / 7739 | ||||
|
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
|
(OMIM) | Bone destruction and mineralized soft tissue mass | 1 / 7739 | ||||
|
|
(OMIM) | Painful tender mass at long bone metaphysis | 1 / 7739 | ||||
|
|
(OMIM) | High alkaline phoshphatase | 1 / 7739 | ||||
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(OMIM) | Rearrangements involving chromosomes 13 and 14 | 1 / 7739 | ||||
|
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(OMIM) | Loss of heterozygosity of chromosomes 13 and 17 | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Harmon and Morton (1966) reported osteogenic sarcoma in 4 sibs, with onset at 11, 15, 20, and 22 years. Epstein et al. (1970) observed osteogenic sarcoma in a father and daughter. See chondrosarcoma (215300). Goorin et ... |
| Molecular genetics OMIM |
Sadikovic et al. (2009) performed integrative whole-genome analysis of DNA copy number, promoter methylation, and gene expression using 10 pediatric osteosarcoma tissue samples. Hypomethylation, copy number gain, and overexpression were identified for the histone cluster 2 genes (see ... |