Osteosarcoma, Somatic malady

Genetic diseases, Rare diseases, Bone diseases, Cancer diseases categories

Aliases & Classifications for Osteosarcoma, Somatic

About this section
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Osteosarcoma, Somatic, Aliases & Descriptions:

Name: Osteosarcoma, Somatic 45
Osteosarcoma 45 9 10 41 11 43 47 22 60
Osteogenic Sarcoma 45 9 41 47
Neoplasms, Bone Tissue 60
Bone Tissue Neoplasm 9
Osteosarcoma of Bone 60
Skeletal Sarcoma 9
Osteoid Sarcoma 9
Bone Sarcoma 60


Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Bone diseases

Characteristics (Orphanet epidemiological data):

Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Childhood

External Ids:

OMIM45 259500
Disease Ontology9 DOID:3347
NCIt38 C9145
MeSH33 D012516
Orphanet47 668
ICD10 via Orphanet26 C40, C41
UMLS via Orphanet61 C0029463
MESH via Orphanet34 D012516

Summaries for Osteosarcoma, Somatic

About this section

NIH Rare Diseases:41 Osteosarcoma is the most common cancerous (malignant) bone tumor in youth. the average age at diagnosis is 15. boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. in rare cases, osteosarcoma occurs in adults. the cause of osteosarcoma is not known. in some cases, it runs in families, and at least one gene has been linked to increased risk. although osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone.a number of variants of osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal. treatment usually starts after a biopsy of the tumor and includes chemotherapy followed by surgery. last updated: 6/7/2009

MalaCards based summary: Osteosarcoma, Somatic, also known as osteosarcoma, is related to sarcoma and rhabdomyosarcoma, and has symptoms including abnormality of metabolism/homeostasis, osteosarcoma and retinoblastoma. An important gene associated with Osteosarcoma, Somatic is RB1 (retinoblastoma 1), and among its related pathways are E2F transcription factor network and Cell cycle Regulation of G1 S transition part 2 . The drugs methotrexate and methotrexate sodium and the compounds [alcl] and 7-hydroxystaurosporine have been mentioned in the context of this disorder. Affiliated tissues include bone and bone, and related mouse phenotypes are pigmentation and adipose tissue.

Disease Ontology:9 A bone cancer that is located in bone that has material basis in cells of mesenchymal origin.

Description from OMIM:45 259500

Related Diseases for Osteosarcoma, Somatic

About this section

Diseases related to Osteosarcoma, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 249)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.4TP53, CHEK2, RB1
2rhabdomyosarcoma30.6RB1, TP53
3liposarcoma30.5TP53, RB1
4leiomyosarcoma30.4RB1, TP53
5li-fraumeni syndrome30.2RB1, CHEK2, TP53
6transitional cell carcinoma30.2TP53, RB1
7neuroblastoma30.1MYC, TP53
8breast cancer29.9RB1, CHEK2, MYC, TP53
9lung cancer29.9RB1, MYC, TP53
10adenoma29.9RB1, MYC, TP53
11leukemia29.8RB1, CHEK2, MYC, TP53
12ataxia-telangiectasia29.7CHEK2, TP53
13retinoblastoma29.7TP53, MYC, CHEK2, RB1
14hepatocellular carcinoma29.6RB1, MYC, TP53
15adenocarcinoma29.6TP53, MYC, CHEK2, RB1
16prostate cancer29.5MYC, CHEK2, RB1
17melanoma29.4RB1, CHEK2, MYC, TP53
18glioblastoma29.2RB1, CHEK2, MYC, TP53
19pediatric osteosarcoma10.7
20telangiectatic osteogenic sarcoma10.6
21multifocal osteogenic sarcoma10.6
23periosteal osteogenic sarcoma10.5
24small cell osteogenic sarcoma10.5
25fibrous histiocytoma10.4
26bone osteosarcoma10.4
28cerebral primitive neuroectodermal tumor10.4MYC
29rothmund-thomson syndrome10.4
30synchronous multifocal osteogenic sarcoma10.4
31kidney osteogenic sarcoma10.4
32intracortical osteogenic sarcoma10.4
34fibrous dysplasia10.4
35asynchronous multifocal osteogenic sarcoma10.4
37mediastinal osteogenic sarcoma10.4
38hepatic osteogenic sarcoma10.4
39childhood parosteal osteogenic sarcoma10.4
40giant cell tumor10.4
42ewing sarcoma10.3
43malignant fibrous histiocytoma of bone10.3
46myositis ossificans10.3
49ossifying fibroma10.2

Graphical network of the top 20 diseases related to Osteosarcoma, Somatic:

Diseases related to osteosarcoma, somatic

Symptoms for Osteosarcoma, Somatic

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Osteosarcoma, Somatic:

id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis HP:0001939
2 osteosarcoma HP:0002669
3 retinoblastoma HP:0009919

Drugs & Therapeutics for Osteosarcoma, Somatic

About this section

Drug clinical trials:

Search ClinicalTrials for Osteosarcoma, Somatic

Search NIH Clinical Center for Osteosarcoma, Somatic

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Osteosarcoma, Somatic

About this section

Genetic tests related to Osteosarcoma, Somatic:

id Genetic test Affiliating Genes
1 Osteosarcoma22

Anatomical Context for Osteosarcoma, Somatic

About this section

MalaCards organs/tissues related to Osteosarcoma, Somatic:


FMA organs/tissues related to Osteosarcoma, Somatic:


Animal Models for Osteosarcoma, Somatic or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteosarcoma, Somatic:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9RB1, MYC, TP53
2MP:00053758.8TP53, MYC, RB1
3MP:00053718.7TP53, MYC, RB1
4MP:00053708.7RB1, MYC, TP53
5MP:00053828.4RB1, MYC, TP53
6MP:00020068.3RB1, CHEK2, MYC, TP53
7MP:00053978.2RB1, CHEK2, MYC, TP53
8MP:00053878.1RB1, CHEK2, MYC, TP53
9MP:00053848.0TP53, MYC, CHEK2, RB1

Publications for Osteosarcoma, Somatic

About this section

Articles related to Osteosarcoma, Somatic:

Analysis of oncogene, tumor suppressor gene, and chromosomal alterations in HeLa x osteosarcoma somatic cell hybrids. (10331742)

Variations for Osteosarcoma, Somatic

About this section

Clinvar genetic disease variations for Osteosarcoma, Somatic:

id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.722C> T (p.Ser241Phe)single nucleotide variantLikely pathogenic, Pathogenicrs28934573GRCh37Chr 17, 7577559: 7577559
2TP53TP53, 7-BP INS, NT13160insertionPathogenic
3CHEK2NM_007194.3(CHEK2): c.49G> T (p.Ala17Ser)single nucleotide variantPathogenicrs137853008GRCh37Chr 22, 29130661: 29130661

Cosmic variations for Osteosarcoma, Somatic:

id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)

Expression for genes affiliated with Osteosarcoma, Somatic

About this section
Search GEO for disease gene expression data for Osteosarcoma, Somatic.

Pathways for genes affiliated with Osteosarcoma, Somatic

About this section

Pathways related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RB1, MYC
Show member pathways
Cell cycle ESR1 regulation of G1 S transition58
Immune response MIF JAB1 signaling58
Cell cycle Cell cycle generic schema 58
9.5MYC, RB1
39.5RB1, MYC
Show member pathways
Catalytic cycle of mammalian FMOs36
59.2TP53, RB1
Show member pathways
9.2RB1, TP53
Show member pathways
9.1MYC, TP53
89.1MYC, TP53
99.1MYC, TP53
109.1TP53, MYC
119.1MYC, TP53
129.1TP53, MYC
Show member pathways
9.1MYC, TP53
149.1MYC, TP53
Show member pathways
p53 pathway36
9.0TP53, CHEK2
169.0CHEK2, TP53
179.0CHEK2, TP53
Show member pathways
DNA damage Role of SUMO in p53 regulation58
9.0TP53, CHEK2
Show member pathways
ATM Signaling Pathway36
9.0TP53, CHEK2
209.0TP53, CHEK2
Show member pathways
9.0CHEK2, TP53
228.9RB1, CHEK2, MYC
238.7MYC, TP53, RB1
248.7TP53, MYC, RB1
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.7TP53, RB1, MYC
268.7RB1, TP53, MYC
278.7RB1, TP53, MYC
288.7RB1, MYC, TP53
Show member pathways
8.7TP53, MYC, RB1
308.7TP53, MYC, RB1
318.7RB1, MYC, TP53
328.7RB1, MYC, TP53
Show member pathways
8.7MYC, TP53, RB1
Show member pathways
8.7TP53, MYC, RB1
Show member pathways
Signaling Pathways in Glioblastoma36
8.7RB1, MYC, TP53
Show member pathways
8.6TP53, RB1, CHEK2
Show member pathways
8.6RB1, TP53, CHEK2
Show member pathways
8.6TP53, CHEK2, RB1
398.5MYC, TP53, CHEK2
Show member pathways
8.5TP53, CHEK2, MYC
418.5TP53, MYC, CHEK2
Show member pathways
DNA damage response36
8.1MYC, RB1, TP53, CHEK2
438.1MYC, CHEK2, RB1, TP53
Show member pathways
Cell cycle36
8.1RB1, CHEK2, MYC, TP53
Show member pathways
8.1TP53, CHEK2, RB1, MYC
Show member pathways
8.1TP53, MYC, CHEK2, RB1
Show member pathways
8.1MYC, RB1, CHEK2, TP53
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
8.1TP53, RB1, CHEK2, MYC
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
8.1RB1, MYC, CHEK2, TP53
508.1CHEK2, MYC, TP53, RB1

Compounds for genes affiliated with Osteosarcoma, Somatic

About this section

Compounds related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1[alcl]439.9MYC, RB1
27-hydroxystaurosporine43 1210.6RB1, TP53
3hpvs439.6TP53, RB1
4olomoucine43 1210.6TP53, RB1
5tanshinone iia439.6TP53, MYC
610-hydroxycamptothecin439.5MYC, TP53
7aflatoxin b143 2410.5RB1, TP53
8crcs439.5TP53, RB1
9cd 437439.4MYC, TP53
10bpde439.4CHEK2, TP53
11sodium arsenite439.4MYC, TP53
12temozolomide43 1210.4TP53, CHEK2
13benzo(a)pyrene439.4TP53, RB1
14sn 3843 5910.4TP53, CHEK2
15flavopiridol43 1210.3RB1, TP53
16suberoylanilide hydroxamic acid439.3MYC, TP53
17okadaic acid43 5910.3MYC, RB1, CHEK2
18melphalan43 49 1211.2MYC, TP53
19rapamycin439.2RB1, CHEK2, MYC
20carboplatin43 49 1211.2RB1, TP53
21bortezomib43 49 1211.2TP53, MYC
22genistein43 28 59 2 24 1214.2MYC, CHEK2, RB1
23hmba439.1RB1, TP53, MYC
24depsipeptide439.1RB1, TP53, MYC
25n-(4-hydroxyphenyl)retinamide439.1MYC, TP53, RB1
26roscovitine439.1RB1, MYC, TP53
27vincristine43 49 1211.1TP53, RB1, MYC
28cytarabine43 49 1211.1MYC, TP53, RB1
29butyrate439.0RB1, MYC, TP53
30paclitaxel43 49 1211.0TP53, MYC, RB1
31nocodazole43 1210.0TP53, CHEK2
32ly294002439.0RB1, MYC, TP53
33actinomycin d439.0MYC, RB1, TP53
34paraffin439.0MYC, TP53, RB1
35hydroxyurea43 49 1210.9CHEK2, TP53, MYC
36gemcitabine43 49 1210.9CHEK2, MYC, TP53
37adpribose438.9RB1, TP53
38thymidine43 249.9TP53, MYC, RB1
39n acetylcysteine438.9TP53, CHEK2, MYC
40phosphatidylinositol438.8MYC, CHEK2, CDS1, RB1
41vegf438.6RB1, TP53, MYC
42aphidicolin438.5RB1, CHEK2, TP53, MYC
43adriamycin438.5MYC, TP53, RB1, CHEK2
44camptothecin43 59 1210.5CHEK2, TP53, RB1, MYC
45etoposide43 49 59 1211.5MYC, TP53, RB1, CHEK2
46doxorubicin43 49 1210.5RB1, CHEK2, MYC, TP53
47cisplatin43 49 59 1211.5CHEK2, TP53, MYC, RB1
48oligonucleotide438.5RB1, TP53, MYC, CHEK2
49retinoic acid43 249.4RB1, MYC, TP53, CHEK2
50serine438.3RB1, TP53, CHEK2, MYC

GO Terms for genes affiliated with Osteosarcoma, Somatic

About this section

Cellular components related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spindleGO:00058199.5RB1, MYC
2chromatinGO:00007858.9RB1, TP53
3PML bodyGO:00166058.6RB1, CHEK2, TP53
4nucleoplasmGO:00056548.0TP53, MYC, CHEK2, RB1

Biological processes related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1chromatin remodelingGO:00063389.6RB1, MYC
2neuron apoptotic processGO:00514029.4RB1, TP53
3negative regulation of fibroblast proliferationGO:00481479.4MYC, TP53
4cellular response to UVGO:00346449.3TP53, MYC
5cellular response to drugGO:00356909.3MYC, TP53
6replicative senescenceGO:00903999.3CHEK2, TP53
7Ras protein signal transductionGO:00072659.2TP53, RB1
8double-strand break repairGO:00063029.1TP53, CHEK2
9transforming growth factor beta receptor signaling pathwayGO:00071799.1MYC, TP53
10cell cycle arrestGO:00070508.9TP53, MYC, RB1
11Notch signaling pathwayGO:00072198.8MYC, TP53
12response to gamma radiationGO:00103328.8CHEK2, MYC, TP53
13cellular response to DNA damage stimulusGO:00069748.8CHEK2, MYC, TP53
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.6RB1, MYC, TP53
15positive regulation of transcription, DNA-templatedGO:00458938.3RB1, CHEK2, MYC, TP53

Molecular functions related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.7RB1, MYC, TP53
2ubiquitin protein ligase bindingGO:00316258.6RB1, CHEK2, TP53
3transcription factor bindingGO:00081348.6RB1, MYC, TP53
4identical protein bindingGO:00428028.3TP53, CHEK2, RB1

Products for genes affiliated with Osteosarcoma, Somatic

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Osteosarcoma, Somatic

About this section
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet