OSRC
MCID: OST085
MIFTS: 63

Osteosarcoma, Somatic (OSRC) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Cancer diseases

Aliases & Classifications for Osteosarcoma, Somatic

Aliases & Descriptions for Osteosarcoma, Somatic:

Name: Osteosarcoma, Somatic 54
Osteosarcoma 54 12 50 56 66 29 13 52 42 14 69
Osteogenic Sarcoma 54 12 50 56 66 14
Neoplasms, Bone Tissue 42 69
Bone Tissue Neoplasm 12
Osteosarcoma of Bone 69
Skeletal Sarcoma 12
Osteoid Sarcoma 12
Bone Sarcoma 69
Osrc 66

Characteristics:

Orphanet epidemiological data:

56
osteosarcoma
Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 56  
Rare bone diseases


External Ids:

OMIM 54 259500
Disease Ontology 12 DOID:3347
NCIt 47 C9145
Orphanet 56 ORPHA668
MESH via Orphanet 43 D012516
ICD10 via Orphanet 34 C41.9
UMLS via Orphanet 70 C0029463
MedGen 40 C0029463

Summaries for Osteosarcoma, Somatic

NIH Rare Diseases : 50 osteosarcoma is the most common type of bone cancer. 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. 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. 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. treatment varies from person to person and may include surgery, chemotherapy, radiation therapy, and samarium. last updated: 9/8/2016

MalaCards based summary : Osteosarcoma, Somatic, also known as osteosarcoma, is related to extraosseous osteosarcoma and conventional central osteosarcoma, and has symptoms including fever, pain and joint swelling. An important gene associated with Osteosarcoma, Somatic is CHEK2 (Checkpoint Kinase 2), and among its related pathways/superpathways are ERK Signaling and Glioma. The drugs Fusilev and Radium Ra 223 dichloride have been mentioned in the context of this disorder. Affiliated tissues include bone and bone, and related phenotypes are Decreased substrate adherent cell growth and growth/size/body region

Disease Ontology : 12 A bone cancer that is located in bone that has material basis in cells of mesenchymal origin.

UniProtKB/Swiss-Prot : 66 Osteogenic sarcoma: A sarcoma originating in bone-forming cells, affecting the ends of long bones.

Description from OMIM: 259500

Related Diseases for Osteosarcoma, Somatic

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

(show top 50) (show all 320)
id Related Disease Score Top Affiliating Genes
1 extraosseous osteosarcoma 33.5 BGLAP CDK4 MDM2 MYC
2 conventional central osteosarcoma 33.3 CDK4 MDM2 PTHLH
3 metachronous osteosarcoma of the bone 33.0 CDK4 MDM2 PTHLH SPARC
4 multifocal osteogenic sarcoma 31.5 CDK4 MDM2 MYC
5 osteomyelitis 29.8 CDK4 MDM2 RB1
6 adult extraosseous osteosarcoma 12.0
7 juxtacortical osteosarcoma 11.9
8 chondroblastic osteosarcoma 11.9
9 bone osteosarcoma 11.9
10 pediatric osteosarcoma 11.9
11 localized osteosarcoma 11.9
12 breast osteosarcoma 11.9
13 fibrosarcomatous osteosarcoma 11.8
14 peripheral osteosarcoma 11.8
15 childhood extraosseous osteosarcoma 11.7
16 osteosarcoma arising in bone paget's disease 11.7
17 childhood intracortical osteosarcoma 11.7
18 central nervous system osteosarcoma 11.6
19 bone cancer 11.5
20 oslam syndrome 11.4
21 rothmund-thomson syndrome 11.1
22 li-fraumeni syndrome 11.1
23 small cell osteogenic sarcoma 10.9
24 diaphyseal medullary stenosis with malignant fibrous histiocytoma 10.9
25 enchondromatosis, multiple, ollier type 10.9
26 periosteal osteogenic sarcoma 10.9
27 hepatic osteogenic sarcoma 10.8
28 telangiectatic osteogenic sarcoma 10.8
29 intracortical osteogenic sarcoma 10.8
30 mediastinal osteogenic sarcoma 10.8
31 exostoses, multiple, type 2 10.8
32 exostoses, multiple, type 1 10.8
33 multiple enchondromatosis, maffucci type 10.8
34 paget disease of bone 6 10.8
35 bone giant cell tumor 10.7
36 synchronous multifocal osteogenic sarcoma 10.6
37 asynchronous multifocal osteogenic sarcoma 10.6
38 childhood parosteal osteogenic sarcoma 10.6
39 premature aging okamoto type 10.6
40 primary bone cancer 10.6
41 kidney osteogenic sarcoma 10.6
42 lymphoproliferative syndrome, ebv-associated, autosomal, 1 10.4 CHEK2 TP53
43 sarcomatosis 10.4 BGLAP SPARC
44 rommen mueller sybert syndrome 10.4 CDK4 MDM2 TP53
45 primary release disorder of platelets 10.4 BGLAP PTHLH
46 cervical verrucous carcinoma 10.4 MDM2 RB1 TP53
47 juvenile onset parkinson disease 19a 10.4 BGLAP BMP2 RUNX2
48 serous cystadenocarcinoma 10.4 BGLAP SPARC SPP1
49 blood protein disease 10.4 CDK4 EZR MDM2
50 liposarcoma of bone 10.4 CDK4 MDM2 SPARC

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



Diseases related to Osteosarcoma, Somatic

Symptoms & Phenotypes for Osteosarcoma, Somatic

Symptoms by clinical synopsis from OMIM:

259500

Clinical features from OMIM:

259500

Human phenotypes related to Osteosarcoma, Somatic:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Very rare (<4-1%) HP:0001945
2 pain 56 32 Frequent (79-30%) HP:0012531
3 joint swelling 56 32 Frequent (79-30%) HP:0001386
4 weight loss 56 32 Very rare (<4-1%) HP:0001824
5 pathologic fracture 56 32 Very rare (<4-1%) HP:0002756
6 abnormal lactate dehydrogenase activity 56 32 Frequent (79-30%) HP:0045040
7 osteolysis 56 32 Very frequent (99-80%) HP:0002797
8 elevated alkaline phosphatase 56 32 Frequent (79-30%) HP:0003155
9 abnormality of the femoral metaphysis 56 32 Very frequent (99-80%) HP:0006489
10 abnormality of the tibial metaphysis 56 32 Frequent (79-30%) HP:0006491
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 abnormality of the metaphyses 56 Frequent (79-30%)
13 retinoblastoma 32 HP:0009919
14 osteosarcoma 32 HP:0002669

GenomeRNAi Phenotypes related to Osteosarcoma, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.5 IGF1R
2 Decreased substrate adherent cell growth GR00193-A-2 9.5 CDK4
3 Decreased substrate adherent cell growth GR00193-A-3 9.5 CDK4 CHEK2
4 Decreased substrate adherent cell growth GR00193-A-4 9.5 CDK4 CHEK2 IGF1R
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CASP3 CHEK2 RB1 TNFRSF11B TP53
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CASP3 CHEK2 IGF1R MYC RB1 TNFRSF11B

MGI Mouse Phenotypes related to Osteosarcoma, Somatic:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.53 MYC PTH1R PTHLH RB1 RUNX2 SPARC
2 hematopoietic system MP:0005397 10.51 SPARC SPP1 TNFRSF11B TNFSF11 TP53 BMP2
3 immune system MP:0005387 10.49 BMP2 CASP3 CDK4 CHEK2 EZR IBSP
4 craniofacial MP:0005382 10.48 BMP2 CASP3 IGF1R MDM2 MMP2 MYC
5 homeostasis/metabolism MP:0005376 10.45 SPARC SPP1 TNFSF11 TP53 MYC PTH1R
6 cardiovascular system MP:0005385 10.43 BMP2 CASP3 CDK4 IGF1R MDM2 MMP2
7 cellular MP:0005384 10.42 BMP2 CASP3 CDK4 CHEK2 IGF1R MDM2
8 mortality/aging MP:0010768 10.41 BMP2 CASP3 CDK4 CHEK2 EZR IGF1R
9 behavior/neurological MP:0005386 10.4 CASP3 CDK4 IGF1R MDM2 MYC PTH1R
10 digestive/alimentary MP:0005381 10.38 IGF1R MDM2 MYC PTH1R PTHLH RB1
11 endocrine/exocrine gland MP:0005379 10.32 CASP3 CDK4 CHEK2 IGF1R MDM2 TP53
12 limbs/digits/tail MP:0005371 10.32 BMP2 IBSP IGF1R MDM2 MYC PTH1R
13 integument MP:0010771 10.3 MDM2 MYC PTHLH RB1 RUNX2 SPARC
14 nervous system MP:0003631 10.22 BMP2 CASP3 CDK4 CHEK2 IGF1R MDM2
15 muscle MP:0005369 10.2 CASP3 CDK4 IGF1R MDM2 MMP2 MYC
16 embryo MP:0005380 10.19 BMP2 CDK4 IGF1R MDM2 MYC PTH1R
17 neoplasm MP:0002006 10.17 CDK4 CHEK2 IGF1R MDM2 MMP2 MYC
18 hearing/vestibular/ear MP:0005377 10.11 CASP3 IGF1R MYC RB1 TNFRSF11B TP53
19 liver/biliary system MP:0005370 10.1 IGF1R MDM2 MYC RB1 RUNX2 SPP1
20 reproductive system MP:0005389 10.03 TP53 BMP2 CASP3 CDK4 IGF1R MDM2
21 pigmentation MP:0001186 9.91 CASP3 CDK4 MDM2 MYC RB1 SPARC
22 renal/urinary system MP:0005367 9.87 CASP3 CDK4 MDM2 PTHLH RB1 SPP1
23 skeleton MP:0005390 9.86 BMP2 CASP3 IBSP IGF1R MDM2 RB1
24 respiratory system MP:0005388 9.85 CASP3 IGF1R MMP2 PTH1R PTHLH RB1
25 vision/eye MP:0005391 9.28 CASP3 CDK4 MMP2 PTHLH RB1 RUNX2

Drugs & Therapeutics for Osteosarcoma, Somatic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Fusilev 17 LEVOLEUCOVORIN CALCIUM Spectrum Pharmaceuticals Approved March of 2008

Drugs for Osteosarcoma, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 332)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Radium Ra 223 dichloride Approved, Investigational Phase 4,Phase 1,Phase 2 444811-40-9
2
Succinylcholine Approved Phase 4,Phase 1,Phase 2 306-40-1 5314
3 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
5 Antidepressive Agents Phase 4
6 Antimanic Agents Phase 4,Phase 1
7 Lithium carbonate Phase 4 554-13-2
8 Psychotropic Drugs Phase 4,Phase 1
9 Tranquilizing Agents Phase 4,Phase 1
10 Neuromuscular Agents Phase 4,Phase 1,Phase 2
11 Neuromuscular Blocking Agents Phase 4,Phase 1,Phase 2
12 Neuromuscular Depolarizing Agents Phase 4,Phase 1,Phase 2
13
Cisplatin Approved Phase 2, Phase 3, Phase 1 15663-27-1 84093 441203 2767
14
Doxorubicin Approved, Investigational Phase 2, Phase 3, Phase 1 23214-92-8 31703
15
Ifosfamide Approved Phase 2, Phase 3, Phase 1 3778-73-2 3690
16
Zoledronic acid Approved Phase 2, Phase 3, Phase 1 118072-93-8 68740
17
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 50-02-2 5743
18
Diphenhydramine Approved Phase 2, Phase 3 58-73-1, 147-24-0 3100
19
Gemcitabine Approved Phase 2, Phase 3,Phase 1 95058-81-4 60750
20
Promethazine Approved Phase 2, Phase 3 60-87-7 4927
21
Mechlorethamine Approved Phase 3,Phase 2,Phase 1 51-75-2 4033
22
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
23
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
24
Etoposide Approved Phase 3,Phase 1,Phase 2 33419-42-0 36462
25
Melphalan Approved Phase 3,Phase 2,Phase 1 148-82-3 4053 460612
26
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
27
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
28
Mesna Approved Phase 3,Phase 1,Phase 2 3375-50-6 598
29
Methotrexate Approved Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
30
Everolimus Approved Phase 3,Phase 2,Phase 1 159351-69-6 6442177
31
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
32
Sirolimus Approved, Investigational Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
33
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
34 Sodium thiosulfate Approved Phase 3
35
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
36
Sorafenib Approved, Investigational Phase 2, Phase 3,Phase 1 284461-73-0 216239 406563
37
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1 119413-54-6, 123948-87-8 60700
38
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
39
Cefazolin Approved Phase 3 25953-19-9 656510 33255
40
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
41
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
42
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
43
Cyproheptadine Approved Phase 3 129-03-3 2913
44
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
45
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
46
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
47
Doxil Approved June 1999 Phase 2, Phase 3, Phase 1 31703
48
Docetaxel Approved May 1996, Investigational Phase 2, Phase 3,Phase 1 114977-28-5 148124 9877265
49
Vatalanib Investigational Phase 2, Phase 3 212141-54-3 151194
50 Bone Density Conservation Agents Phase 2, Phase 3, Phase 1

Interventional clinical trials:

(show top 50) (show all 410)
id Name Status NCT ID Phase
1 Physical Characteristics of Retrieved Massive Allografts Completed NCT00160758 Phase 4
2 HLA Sensitization Following Major Cortical Allograft Bone Procedures Completed NCT00160719 Phase 4
3 CAFE Study - Cancer Patient Fracture Evaluation Completed NCT00211237 Phase 4
4 Clinical Trial of Lithium Carbonate Combined With Neo-adjuvant Chemotherapy to Treat Osteosarcoma Recruiting NCT01669369 Phase 4
5 Radium-223 Dichloride Long-term Follow-up Program Recruiting NCT02312960 Phase 4
6 Evaluation of Zoledronic Acid as a Single Agent or as an Adjuvant to Chemotherapy in High Grade Osteosarcoma Unknown status NCT00691236 Phase 2, Phase 3
7 A Clinical Trial on Efficacy and Safety for Lobaplatin and Gemcitabine in Combination With Docetaxel in the Second-line Treatments on Advanced Osteosarcoma Unknown status NCT02099396 Phase 2, Phase 3
8 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Unknown status NCT00346164 Phase 3
9 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation, Radiation Therapy, and/or Surgery in Treating Patients With Ewing's Sarcoma Unknown status NCT00020566 Phase 3
10 Combination Chemotherapy Plus Surgery and Radiation Therapy in Treating Patients With Ewing's Sarcoma Unknown status NCT00002516 Phase 3
11 Osteosarcoma Study #2: A Randomized Trial of Pre-Surgical Chemotherapy vs. Immediate Surgery and Adjuvant Chemotherapy in the Treatment of Non-Metastatic Osteosarcoma. A Pediatric Oncology Group Phase III Study Completed NCT00001217 Phase 3
12 Comparison of High-Dose Methotrexate (HDM) Plus Doxorubicin to HDM Plus Etoposide-Ifosfamide in Osteosarcoma Children Completed NCT00180908 Phase 3
13 Outpatient Administration of High Dose Methotrexate (HD MTX) in Patients With Osteosarcoma Completed NCT01176981 Phase 3
14 Combination Chemotherapy and Surgery With or Without G-CSF in Treating Patients With Osteosarcoma Completed NCT00002539 Phase 3
15 Combination Chemotherapy Plus Dexrazoxane in Treating Patients With Newly Diagnosed Nonmetastatic Osteosarcoma Completed NCT00003937 Phase 3
16 Ridaforolimus in Treatment of Sarcoma-SUCCEED (Sarcoma Multi-Center Clinical Evaluation of the Efficacy of Ridaforolimus)(8669-011 AM6) Completed NCT00538239 Phase 3
17 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3
18 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
19 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
20 Combination Chemotherapy With or Without Hyperthermia Therapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00003052 Phase 3
21 ExAblate (Magnetic Resonance-guided Focused Ultrasound Surgery) Treatment of Metastatic Bone Tumors for the Palliation of Pain Completed NCT00656305 Phase 3
22 Comparison of Combination Chemotherapy Regimens in Treating Patients With Ewing's Sarcoma or Neuroectodermal Tumor Completed NCT00006734 Phase 3
23 ABCB1/P-glycoprotein Expression as Biologic Stratification Factor for Patients With Non Metastatic Osteosarcoma Recruiting NCT01459484 Phase 2, Phase 3
24 Apatinib for Advanced Osteosarcoma After Failure of Standard Multimodal Therapy Recruiting NCT02711007 Phase 2, Phase 3
25 Study Comparing the Safety and Effectiveness of Magnetic Resonance Guided Focused Ultrasound (MRgFUS) and External Beam Radiation (EBRT) for Treatment of Metastatic Bone Tumors and Multiple Myeloma Recruiting NCT01091883 Phase 3
26 Prophylactic Antibiotic Regimens in Tumor Surgery (PARITY) Recruiting NCT01479283 Phase 3
27 Randomized Controlled Trial to Assess Blockade of Voltage Gated Sodium Channels During Surgery in Operable Breast Cancer Recruiting NCT01916317 Phase 3
28 Co-treatment With GnRH Analogs on the Ovarian Reserve in Young Women Treated With Alkylating Agents for Cancer Recruiting NCT02856048 Phase 2, Phase 3
29 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-Rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3
30 Efficacy of Dose Intensification in Patients With Non-metastatic Ewing Sarcoma Recruiting NCT02063022 Phase 3
31 Study in Localized and Disseminated Ewing Sarcoma Recruiting NCT00987636 Phase 3
32 Combination Chemotherapy With or Without Ganitumab in Treating Patients With Newly Diagnosed Metastatic Ewing Sarcoma Recruiting NCT02306161 Phase 3
33 Combination Chemotherapy, PEG-Interferon Alfa-2b, and Surgery in Treating Patients With Osteosarcoma Active, not recruiting NCT00134030 Phase 3
34 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
35 Combination Chemotherapy in Treating Patients With Non-Metastatic Extracranial Ewing Sarcoma Active, not recruiting NCT01231906 Phase 3
36 Combined Chemotherapy With or Without Zoledronic Acid for Patients With Osteosarcoma Terminated NCT00470223 Phase 3
37 Enbrel Versus Placebo With Radiation Therapy to Combat Fatigue and Cachexia Terminated NCT00127387 Phase 2, Phase 3
38 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
39 Doxorubicin Hydrochloride or Trabectedin in Treating Patients With Previously Untreated Advanced or Metastatic Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3
40 Post-operative Radiotherapy in Poor Responders Ewing's Sarcoma Patients Withdrawn NCT01734863 Phase 3
41 Combination Chemotherapy With or Without Topotecan in Treating Patients With Newly Diagnosed Localized Ewing's Sarcoma Withdrawn NCT00334867 Phase 3
42 A Study of Endostar Combined With Chemotherapy for Treatment of Osteosarcoma Unknown status NCT01002092 Phase 2
43 Phase II Study of Everolimus in Children and Adolescents With Refractory or Relapsed Osteosarcoma Unknown status NCT01216826 Phase 2
44 Pilot Study of Curcumin Formulation and Ashwagandha Extract in Advanced Osteosarcoma Unknown status NCT00689195 Phase 1, Phase 2
45 Interferon Alfa and Thalidomide in Treating Patients With Soft Tissue Sarcoma or Bone Sarcoma Unknown status NCT00026416 Phase 2
46 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2
47 Weekly Docetaxel and Fixed-Dose Rate Gemcitabine Combination Chemotherapy Unknown status NCT00807261 Phase 2
48 The Adoptive Immunotherapy for Solid Tumors Using Modified Autologous Cytokine-induced Killer Cells Unknown status NCT01868490 Phase 1, Phase 2
49 Hematopoietic Stem Cell Transplantation From Human Leukocyte Antigen (HLA) Compatible Donor in Ewing Sarcomas and Soft Tissues Sarcomas Unknown status NCT00998361 Phase 2
50 Tandem Peripheral Blood Stem Cell (PBSC) Rescue for High Risk Solid Tumors Unknown status NCT00179816 Phase 1, Phase 2

Search NIH Clinical Center for Osteosarcoma, Somatic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: osteosarcoma

Genetic Tests for Osteosarcoma, Somatic

Genetic tests related to Osteosarcoma, Somatic:

id Genetic test Affiliating Genes
1 Osteosarcoma 29

Anatomical Context for Osteosarcoma, Somatic

MalaCards organs/tissues related to Osteosarcoma, Somatic:

39
Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Osteosarcoma, Somatic:

18
Bone

Publications for Osteosarcoma, Somatic

Articles related to Osteosarcoma, Somatic:

id Title Authors Year
1
Analysis of oncogene, tumor suppressor gene, and chromosomal alterations in HeLa x osteosarcoma somatic cell hybrids. ( 10331742 )
1999

Variations for Osteosarcoma, Somatic

ClinVar genetic disease variations for Osteosarcoma, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.3(CHEK2): c.49G> T (p.Ala17Ser) single nucleotide variant Pathogenic rs137853008 GRCh37 Chromosome 22, 29130661: 29130661
2 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Pathogenic/Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
3 TP53 NM_000546.5(TP53): c.475_481dupGCCATGG (p.Ala161Glyfs) duplication Pathogenic rs863223301 GRCh38 Chromosome 17, 7675131: 7675137
4 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551

Cosmic variations for Osteosarcoma, Somatic:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM1034 RB1 bone,NS,osteosarcoma,chondroblastic c.1499-1G>T p.? 13
2 COSM866 RB1 bone,NS,osteosarcoma,osteoblastic c.1399C>T p.R467* 13
3 COSM27887 GNAS bone,NS,osteosarcoma,parosteal c.601C>T p.R201C 13
4 COSM27895 GNAS bone,NS,osteosarcoma,parosteal c.602G>A p.R201H 13

Copy number variations for Osteosarcoma, Somatic from CNVD:

7 (show top 50) (show all 688)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17390 1 142600000 150300000 Gain Osteosarcoma
2 17391 1 142600000 155000000 Amplification Osteosarcoma
3 39243 10 112373403 112374403 Gain Osteosarcoma
4 39244 10 112373452 112374452 Loss Osteosarcoma
5 41292 10 15522819 15523819 Loss Osteosarcoma
6 41294 10 15581536 15582536 Loss Osteosarcoma
7 46318 10 80680600 80681600 Loss Osteosarcoma
8 46347 10 80806585 80807585 Loss Osteosarcoma
9 58796 11 69623478 69623778 Gain Osteosarcoma
10 58827 11 69805619 69805919 Loss Osteosarcoma
11 60316 11 85062165 85063165 Gain Osteosarcoma
12 60323 11 85134471 85135471 Gain Osteosarcoma
13 62537 12 10955611 10956611 Gain Osteosarcoma
14 62568 12 10980072 10981072 Gain Osteosarcoma
15 62603 12 11027103 11028103 Loss Osteosarcoma
16 63038 12 11366981 11367981 Gain Osteosarcoma
17 63258 12 11668570 11669570 Gain Osteosarcoma
18 63272 12 11686468 11687468 Loss Osteosarcoma
19 64267 12 12569624 12570624 Loss Osteosarcoma
20 64268 12 12573054 12574054 Loss Osteosarcoma
21 64280 12 12586928 12587928 Gain Osteosarcoma
22 64287 12 12597865 12598865 Loss Osteosarcoma
23 64343 12 12687540 12688540 Gain Osteosarcoma
24 64577 12 12982393 12983393 Gain Osteosarcoma
25 64986 12 14117741 14118741 Loss Osteosarcoma
26 64996 12 14185562 14186562 Gain Osteosarcoma
27 64998 12 14245323 14246323 Gain Osteosarcoma
28 65344 12 16046949 16047949 Gain Osteosarcoma
29 65345 12 16049923 16050923 Loss Osteosarcoma
30 65347 12 16051037 16052037 Gain Osteosarcoma
31 65348 12 16051062 16052062 Loss Osteosarcoma
32 65349 12 16054806 16055806 Gain Osteosarcoma
33 65384 12 16430865 16431865 Gain Osteosarcoma
34 65385 12 16433142 16434142 Loss Osteosarcoma
35 65386 12 16436484 16437484 Gain Osteosarcoma
36 65391 12 16463017 16464017 Gain Osteosarcoma
37 65392 12 16466398 16467398 Gain Osteosarcoma
38 65400 12 16603247 16604247 Loss Osteosarcoma
39 65436 12 17462418 17463418 Gain Osteosarcoma
40 65437 12 17462804 17463804 Loss Osteosarcoma
41 65493 12 1815281 1816281 Loss Osteosarcoma
42 65649 12 20337069 20338069 Gain Osteosarcoma
43 65959 12 23459482 23460482 Loss Osteosarcoma
44 65979 12 23822360 23823360 Loss Osteosarcoma
45 66478 12 29963884 29964884 Loss Osteosarcoma
46 66480 12 29986214 29987214 Gain Osteosarcoma
47 66482 12 30002256 30003256 Loss Osteosarcoma
48 66483 12 30014548 30015548 Loss Osteosarcoma
49 66485 12 30029899 30030899 Loss Osteosarcoma
50 67171 12 37173408 37174408 Loss Osteosarcoma

Expression for Osteosarcoma, Somatic

Search GEO for disease gene expression data for Osteosarcoma, Somatic.

Pathways for Osteosarcoma, Somatic

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

(show top 50) (show all 73)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 BMP2 CASP3 CDK4 CHEK2 EZR IGF1R
2
Show member pathways
13.07 CDK4 IGF1R MDM2 MMP2 MYC RB1
3
Show member pathways
12.97 CASP3 CDK4 MYC RB1 SPP1 TP53
4
Show member pathways
12.88 CASP3 IGF1R MDM2 MYC TNFRSF11B TP53
5
Show member pathways
12.81 BMP2 CASP3 IBSP MMP2 SPARC SPP1
6
Show member pathways
12.74 CDK4 CHEK2 MDM2 MYC RB1 TP53
7 12.65 CDK4 IBSP IGF1R MDM2 MYC SPP1
8
Show member pathways
12.62 CDK4 MDM2 MYC RB1 TP53
9
Show member pathways
12.61 CASP3 MDM2 MMP2 MYC RB1 TP53
10 12.57 CASP3 EZR MDM2 MYC TP53
11 12.57 BMP2 CASP3 CDK4 IGF1R MDM2 MMP2
12 12.56 CDK4 CHEK2 MDM2 RB1 TP53
13
Show member pathways
12.5 CASP3 CHEK2 IGF1R MDM2 TP53
14 12.49 CDK4 CHEK2 MYC RB1 TP53
15 12.44 CDK4 CHEK2 MDM2 MYC RB1 TP53
16
Show member pathways
12.44 CASP3 CDK4 CHEK2 MDM2 MYC RB1
17
Show member pathways
12.43 IGF1R MDM2 MYC TP53
18
Show member pathways
12.43 CASP3 IGF1R MDM2 MYC TP53
19 12.36 CASP3 CDK4 MDM2 RB1 TP53
20 12.34 MDM2 MYC RB1 TP53
21
Show member pathways
12.33 CASP3 CDK4 CHEK2 MDM2 RB1 TP53
22 12.33 CASP3 EZR IGF1R MDM2 MMP2 MYC
23 12.31 IGF1R MDM2 MYC RUNX2 TP53
24
Show member pathways
12.28 CDK4 CHEK2 MYC RB1
25 12.24 CASP3 MMP2 MYC TP53
26
Show member pathways
12.19 CASP3 CDK4 IGF1R MDM2 MYC RB1
27
Show member pathways
12.17 EZR IGF1R MDM2 MMP2
28
Show member pathways
12.17 CDK4 MDM2 MYC RB1 TP53
29 12.14 MDM2 MMP2 RB1 SPP1 TP53
30 12.14 CASP3 CDK4 CHEK2 MDM2 MYC RB1
31 12.13 CDK4 CHEK2 MDM2 TP53
32 12.08 CASP3 CDK4 MYC RB1 TP53
33 12.05 CDK4 IGF1R MDM2 MYC RB1 TP53
34 12 BMP2 IGF1R MDM2 RB1 SPARC TP53
35 11.97 BGLAP BMP2 RUNX2 SPARC SPP1
36 11.93 CDK4 MDM2 MYC RB1 TP53
37 11.89 CDK4 MYC RB1 TP53
38
Show member pathways
11.86 CHEK2 MDM2 TP53
39
Show member pathways
11.84 CHEK2 RB1 TP53
40 11.83 BGLAP MDM2 TP53
41 11.83 CDK4 MYC TP53
42 11.8 CDK4 MYC RUNX2
43 11.78 CASP3 MDM2 TP53
44
Show member pathways
11.78 CHEK2 MDM2 TP53
45 11.78 CDK4 IGF1R MYC RB1
46 11.77 BMP2 MDM2 MMP2 RB1 TP53
47 11.76 IGF1R PTH1R PTHLH RUNX2 SPP1
48 11.73 CASP3 EZR MMP2
49 11.73 CHEK2 MYC TP53
50 11.72 EZR IGF1R MMP2 SPARC

GO Terms for Osteosarcoma, Somatic

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

id Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.35 BGLAP EZR IBSP SPARC SPP1
2 extracellular space GO:0005615 9.32 BGLAP BMP2 EZR IBSP MMP2 PTHLH

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

(show all 40)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.97 BMP2 CASP3 MDM2 SPARC
2 positive regulation of cell proliferation GO:0008284 9.95 CDK4 IGF1R MDM2 MYC PTH1R PTHLH
3 regulation of gene expression GO:0010468 9.94 CDK4 MDM2 MYC PTHLH
4 extracellular matrix organization GO:0030198 9.94 IBSP SPARC SPP1 TNFRSF11B
5 positive regulation of gene expression GO:0010628 9.93 BMP2 EZR MDM2 MYC RUNX2 TP53
6 negative regulation of gene expression GO:0010629 9.92 BMP2 MDM2 MYC RB1
7 response to drug GO:0042493 9.91 BGLAP CASP3 CDK4 MDM2 MYC TNFRSF11B
8 response to glucocorticoid GO:0051384 9.84 BGLAP CASP3 SPARC
9 cellular response to drug GO:0035690 9.82 CHEK2 MYC TP53
10 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.8 CHEK2 MDM2 TP53
11 cellular response to organic cyclic compound GO:0071407 9.8 BMP2 CASP3 MDM2 MYC
12 chondrocyte differentiation GO:0002062 9.77 BMP2 PTH1R RUNX2
13 osteoblast differentiation GO:0001649 9.77 BGLAP BMP2 IBSP RUNX2 SPP1
14 positive regulation of cell cycle GO:0045787 9.76 CDK4 MDM2 MYC
15 negative regulation of cell cycle GO:0045786 9.75 BMP2 CASP3 RB1
16 response to gamma radiation GO:0010332 9.74 CHEK2 MYC TP53
17 response to antibiotic GO:0046677 9.73 CASP3 MDM2 TP53
18 skeletal system development GO:0001501 9.73 BGLAP BMP2 PTH1R PTHLH RUNX2 TNFRSF11B
19 biomineral tissue development GO:0031214 9.72 BGLAP IBSP SPP1
20 cellular response to gamma radiation GO:0071480 9.7 CHEK2 MDM2 TP53
21 negative regulation of cell cycle arrest GO:0071157 9.69 CDK4 CHEK2 MDM2
22 response to magnesium ion GO:0032026 9.68 MDM2 TNFRSF11B
23 positive regulation of bone resorption GO:0045780 9.68 SPP1 TNFSF11
24 replicative senescence GO:0090399 9.67 CHEK2 TP53
25 atrioventricular valve morphogenesis GO:0003181 9.67 BMP2 MDM2
26 cellular response to testosterone stimulus GO:0071394 9.66 MYC SPP1
27 response to gravity GO:0009629 9.65 BGLAP SPARC
28 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.65 BMP2 RUNX2
29 bone mineralization GO:0030282 9.62 BGLAP BMP2 IBSP PTH1R
30 cellular response to phorbol 13-acetate 12-myristate GO:1904628 9.61 CDK4 MYC
31 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.61 BMP2 RUNX2
32 glial cell apoptotic process GO:0034349 9.6 CASP3 RB1
33 cellular response to actinomycin D GO:0072717 9.54 MDM2 TP53
34 osteoblast development GO:0002076 9.46 BGLAP PTH1R PTHLH RUNX2
35 cellular response to growth factor stimulus GO:0071363 9.35 BGLAP BMP2 IBSP MDM2 SPARC
36 ossification GO:0001503 9.1 BGLAP BMP2 PTH1R RUNX2 SPARC TNFSF11
37 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.11 BMP2 EZR MDM2 MYC RB1 TP53
38 negative regulation of apoptotic process GO:0043066 10.07 CASP3 IGF1R MDM2 MYC TP53
39 negative regulation of cell proliferation GO:0008285 10.03 BMP2 PTH1R PTHLH RB1 TP53
40 positive regulation of transcription, DNA-templated GO:0045893 10.02 BMP2 CHEK2 MYC RB1 RUNX2 SPP1

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

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.46 CASP3 CDK4 EZR MYC
2 cytokine activity GO:0005125 9.26 BMP2 SPP1 TNFRSF11B TNFSF11
3 disordered domain specific binding GO:0097718 8.92 EZR MDM2 RB1 TP53

Sources for Osteosarcoma, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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