MCID: CHN056
MIFTS: 34

Chondrosarcoma, Extraskeletal Myxoid malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Chondrosarcoma, Extraskeletal Myxoid

Aliases & Descriptions for Chondrosarcoma, Extraskeletal Myxoid:

Name: Chondrosarcoma, Extraskeletal Myxoid 54 13 42
Extraskeletal Myxoid Chondrosarcoma 12 56 14 69
Myxoid Extraosseous Chondrosarcoma 12

Characteristics:

Orphanet epidemiological data:

56
extraskeletal myxoid chondrosarcoma
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult;

HPO:

32
chondrosarcoma, extraskeletal myxoid:
Inheritance somatic mutation


Classifications:



External Ids:

OMIM 54 612237
Disease Ontology 12 DOID:6496
MeSH 42 C563195
NCIt 47 C27502
SNOMED-CT 64 404079008
Orphanet 56 ORPHA209916
UMLS via Orphanet 70 C1275278
ICD10 via Orphanet 34 C49.9
UMLS 69 C1275278

Summaries for Chondrosarcoma, Extraskeletal Myxoid

OMIM : 54 Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most... (612237) more...

MalaCards based summary : Chondrosarcoma, Extraskeletal Myxoid, also known as extraskeletal myxoid chondrosarcoma, is related to extraosseous chondrosarcoma and chondrosarcoma, and has symptoms including chondrosarcoma An important gene associated with Chondrosarcoma, Extraskeletal Myxoid is NR4A3 (Nuclear Receptor Subfamily 4 Group A Member 3), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Transcriptional misregulation in cancer. The drugs Doxorubicin and Ifosfamide have been mentioned in the context of this disorder. Related phenotype is shRNA abundance <= 50%.

Disease Ontology : 12 An extraosseous chondrosarcoma that has material basis in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.

Related Diseases for Chondrosarcoma, Extraskeletal Myxoid

Diseases related to Chondrosarcoma, Extraskeletal Myxoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
id Related Disease Score Top Affiliating Genes
1 extraosseous chondrosarcoma 11.2
2 chondrosarcoma 10.6
3 myxoid chondrosarcoma 10.6
4 endocardium cancer 10.3 EWSR1 NR4A3 TAF15
5 infiltrating renal pelvis transitional cell carcinoma 10.3 ENO2 SYP
6 skeletal-extraskeletal angiomatosis 10.3 ENO2 SYP
7 lymphatic system disease 10.3 ENO2 SMARCB1
8 glomus tumor 10.3 ENO2 SYP
9 liposarcoma 10.3 EWSR1 WT1
10 peroneal nerve paralysis 10.3 CHGA SYP
11 thrombophlebitis 10.3 ENO2 SMARCB1
12 pemphigus foliaceus 10.3 ENO2 SYP
13 postauricular lymphadenitis 10.3 ENO2 EWSR1 FUS
14 spinal chordoma 10.3 EWSR1 SYP
15 sm-ahnmd 10.2 CHGA ENO2
16 brain stem ependymoma 10.2 CHGA SYP
17 non specific chronic endometritis 10.2 CHGA SYP
18 extrahepatic biliary papillomatosis 10.2 CHGA SYP
19 epithelioid malignant peripheral nerve sheath tumor 10.2 CHGA SYP
20 peripheral osteosarcoma 10.2 ENO2 EWSR1 WT1
21 pharynx cancer 10.2 ENO2 SMARCB1 SYP
22 cartilage cancer 10.2 CHGA SYP
23 childhood medulloblastoma 10.2 ENO2 SMARCB1 SYP
24 myxopapillary ependymoma 10.2 SMARCB1 SYP
25 villous adenocarcinoma 10.2 CHGA SYP
26 coronary restenosis 10.2 EWSR1 FUS WT1
27 jejunal neuroendocrine tumor 10.2 CHGA SYP
28 autosomal recessive stickler syndrome 10.2 ENO2 SYP
29 gallbladder pleomorphic giant cell adenocarcinoma 10.2 ENO2 SYP WT1
30 endocrine organ benign neoplasm 10.2 ENO2 SMARCB1 SYP
31 thymus small cell carcinoma 10.2 CHGA ENO2 SYP
32 prolactin producing pituitary tumor 10.2 CHGA ENO2 SYP
33 rhabdomyosarcoma 2, alveolar 10.2 ENO2 EWSR1 WT1
34 spasmodic dysphonia 10.2 CHGA ENO2 SYP
35 perineural angioma 10.2 CHGA ENO2 SYP
36 heel spur 10.2 EWSR1 SMARCB1
37 superior vena cava syndrome 10.2 CHGA ENO2 SYP
38 fragile x-associated tremor/ataxia syndrome 10.2 CHGA ENO2 SYP
39 acute stress disorder 10.2 ENO2 SYP WT1
40 piussan lenaerts mathieu syndrome 10.2 CHGA ENO2 SYP
41 functionless pituitary adenoma 10.2 CREB3L2 FUS
42 anal squamous cell carcinoma 10.2 CHGA ENO2 SYP
43 uterine corpus myxoid leiomyosarcoma 10.2 CHGA ENO2 SYP
44 pediculus humanus corporis infestation 10.2 CHGA ENO2 SYP
45 hunter macpherson syndrome 10.2 CHGA ENO2 SYP
46 spindle cell rhabdomyosarcoma 10.2 ENO2 SYP WT1
47 congenital muscular dystrophy with hyperlaxity 10.2 ENO2 EWSR1 FUS SYP
48 growth retardation hydrocephaly lung hypoplasia 10.2 CHGA ENO2 SYP
49 cardioauditory syndrome of sanchez cascos 10.2 CHGA ENO2 SYP
50 myoepithelial carcinoma 10.2 CHGA ENO2 SYP

Graphical network of the top 20 diseases related to Chondrosarcoma, Extraskeletal Myxoid:



Diseases related to Chondrosarcoma, Extraskeletal Myxoid

Symptoms & Phenotypes for Chondrosarcoma, Extraskeletal Myxoid

Clinical features from OMIM:

612237

Human phenotypes related to Chondrosarcoma, Extraskeletal Myxoid:

32
id Description HPO Frequency HPO Source Accession
1 chondrosarcoma 32 HP:0006765

GenomeRNAi Phenotypes related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 ZNF444 CREB3L2 DDIT3 FUS NR4A2 NR4A3

Drugs & Therapeutics for Chondrosarcoma, Extraskeletal Myxoid

Drugs for Chondrosarcoma, Extraskeletal Myxoid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
2
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
3
Mechlorethamine Approved Phase 3,Phase 2 51-75-2 4033
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
6
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
7 Alkylating Agents Phase 3,Phase 2
8 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
9 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
10 Isophosphamide mustard Phase 3,Phase 2
11 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
12 Antineoplastic Agents, Alkylating Phase 3,Phase 2
13
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
14
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
15
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
16
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
17
Gemcitabine Approved Phase 2 95058-81-4 60750
18 insulin Phase 2
19 Mitogens Phase 2
20 Angiogenesis Inhibitors Phase 2
21 Angiogenesis Modulating Agents Phase 2
22 Immunoglobulins Phase 2,Phase 1
23 Antibodies, Monoclonal Phase 2,Phase 1
24 Immunosuppressive Agents Phase 2
25 Insulin, Globin Zinc Phase 2
26 Antibodies Phase 2,Phase 1
27 Anti-Infective Agents Phase 2
28 Antimetabolites Phase 2
29 Antimetabolites, Antineoplastic Phase 2
30 Antiviral Agents Phase 2
31 lysine Nutraceutical Phase 2,Phase 1

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Unknown status NCT00346164 Phase 3
2 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
3 Randomised Trial of Volume of Post-operative Radiotherapy Given to Adult Patients With eXtremity Soft Tissue Sarcoma Active, not recruiting NCT00423618 Phase 3
4 Doxorubicin Hydrochloride or Trabectedin in Treating Patients With Previously Untreated Advanced or Metastatic Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3
5 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2
6 A Trial of Perifosine in Patients With Chemo-Insensitive Sarcomas Completed NCT00401388 Phase 2
7 A Study of R1507 in Participants With Recurrent or Refractory Sarcoma Completed NCT00642941 Phase 2
8 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2
9 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2
10 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2
11 Trial of Pazopanib in Patients With Solitary Fibrous Tumor and Extraskeletal Myxoid Chondrosarcoma Recruiting NCT02066285 Phase 2
12 Proton or Photon RT for Retroperitoneal Sarcomas Recruiting NCT01659203 Phase 1, Phase 2
13 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2
14 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2
15 Image-Guided Radiation Therapy in Treating Patients With Primary Soft Tissue Sarcoma of the Shoulder, Arm, Hip, or Leg Active, not recruiting NCT00589121 Phase 2
16 Intensity-Modulated Radiation Therapy in Treating Patients Undergoing Surgery for Stage IB, Stage II, or Stage III Soft Tissue Sarcoma Terminated NCT00740597 Phase 2
17 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1
18 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Recruiting NCT02601937 Phase 1
19 Tissue Sample Collection From Patients With Soft Tissue Sarcoma of the Arms, Hands, Legs, or Feet Treated on Clinial Trial CRUK-VORTEX Unknown status NCT00900211

Search NIH Clinical Center for Chondrosarcoma, Extraskeletal Myxoid

Cochrane evidence based reviews: chondrosarcoma, extraskeletal myxoid

Genetic Tests for Chondrosarcoma, Extraskeletal Myxoid

Anatomical Context for Chondrosarcoma, Extraskeletal Myxoid

Publications for Chondrosarcoma, Extraskeletal Myxoid

Variations for Chondrosarcoma, Extraskeletal Myxoid

Cosmic variations for Chondrosarcoma, Extraskeletal Myxoid:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM5324 PTEN bone,extraskeletal,chondrosarcoma,myxoid c.522T>G p.Y174* 16

Expression for Chondrosarcoma, Extraskeletal Myxoid

Search GEO for disease gene expression data for Chondrosarcoma, Extraskeletal Myxoid.

Pathways for Chondrosarcoma, Extraskeletal Myxoid

Pathways related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.63 EWSR1 FUS SMARCB1 TAF15
2 11.36 DDIT3 EWSR1 FUS NR4A3 TAF15 WT1

GO Terms for Chondrosarcoma, Extraskeletal Myxoid

Cellular components related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.65 CREB3L2 DDIT3 FUS NR4A2 NR4A3 SMARCB1
2 nucleus GO:0005634 9.5 CREB3L2 DDIT3 EWSR1 FUS MKL2 NPM3

Biological processes related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.96 CREB3L2 DDIT3 EWSR1 MKL2 NR4A2 NR4A3
2 regulation of transcription, DNA-templated GO:0006355 9.9 CREB3L2 DDIT3 EWSR1 FUS MKL2 NR4A2
3 transcription from RNA polymerase II promoter GO:0006366 9.8 CREB3L2 MKL2 NR4A2 TCF12 WT1
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.56 CREB3L2 DDIT3 MKL2 NR4A2 NR4A3 SMARCB1
5 mast cell degranulation GO:0043303 9.37 CHGA NR4A3
6 cellular response to corticotropin-releasing hormone stimulus GO:0071376 9.32 NR4A2 NR4A3
7 positive regulation of transcription, DNA-templated GO:0045893 9.17 CREB3L2 DDIT3 NR4A2 NR4A3 TAF15 TCF12

Molecular functions related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.91 CREB3L2 DDIT3 NR4A2 NR4A3 TCF12 WT1
2 sequence-specific DNA binding GO:0043565 9.89 CREB3L2 DDIT3 NR4A2 NR4A3 WT1
3 nucleic acid binding GO:0003676 9.8 EWSR1 FUS SNRPC TAF15 WT1 ZMAT2
4 zinc ion binding GO:0008270 9.76 EWSR1 FUS NR4A2 NR4A3 SNRPC TAF15
5 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.72 CREB3L2 DDIT3 NR4A3 SMARCB1 TCF12
6 transcription regulatory region DNA binding GO:0044212 9.71 CREB3L2 DDIT3 TCF12 WT1
7 DNA binding GO:0003677 9.7 CREB3L2 DDIT3 FUS NR4A2 NR4A3 SMARCB1
8 retinoid X receptor binding GO:0046965 9.48 FUS NR4A2
9 glucocorticoid receptor binding GO:0035259 9.46 NR4A2 NR4A3
10 cAMP response element binding GO:0035497 9.43 CREB3L2 TCF12
11 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.1 CREB3L2 DDIT3 NR4A2 NR4A3 TCF12 WT1
12 RNA binding GO:0003723 10.05 EWSR1 FUS NPM3 SNRPC TAF15 WT1

Sources for Chondrosarcoma, Extraskeletal Myxoid

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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