Sarcoma, Synovial malady

Genetic diseases, Rare diseases, Cancer diseases categories

Aliases & Classifications for Sarcoma, Synovial

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46OMIM, 9diseasecard, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 61UMLS, 44Novoseek, 33MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Sarcoma, Synovial:

Name: Sarcoma, Synovial 46 9
Synovial Sarcoma 8 42 10 48 61
Synovialosarcoma 42 48
Sarcoma Synovial 44


Orphanet: 48 
Rare tumors

Characteristics (Orphanet epidemiological data):

synovial sarcoma:
Inheritance: Not applicable; Age of onset: All ages

External Ids:

OMIM46 300813
Disease Ontology8 DOID:5485
MeSH33 D013584
NCIt39 C3400
SNOMED-CT56 63211008, 302851001
Orphanet48 3273
ICD10 via Orphanet26 C49.9
UMLS via Orphanet62 C0039101

Summaries for Sarcoma, Synovial

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NIH Rare Diseases:42 Synovial sarcoma is rare and aggressive soft tissue sarcoma that appears as deep, painless, slowly growing masses. most frequently the tumor affects the legs, especially the knees, and the arms. less frequently, this disease develops in the trunk, head and neck region, or the abdomen. although synovial sarcoma does not have a clearly defined cause, genetic factors are believed to influence the development of this disease. cells in these tumors are usually characterized by the presence of a translocation involving chromosomes x and 18. this translocation is specific to synovial sarcoma and is often used to diagnose this cancer. although this condition generally affects adults, about 30% of reported cases occur in children and adolescents. last updated: 7/11/2011

MalaCards based summary: Sarcoma, Synovial, also known as synovial sarcoma, is related to malignant peripheral nerve sheath tumor and hemangiopericytoma, and has symptoms including somatic mutationand synovial sarcoma. An important gene associated with Sarcoma, Synovial is SSX2 (synovial sarcoma, X breakpoint 2), and among its related pathways are Cytoskeleton remodeling Keratin filaments and Transcriptional misregulation in cancer. The compounds isotretinoin and mucicarmine have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and growth/size/body.

Disease Ontology:8 A synovium cancer which develops in the synovial membrane of the joints.

OMIM:46 Synovial sarcomas, which represent approximately 10% of all soft tissue sarcomas, are aggressive spindle cell sarcomas... (300813) more...

Wikipedia:64 A synovial sarcoma (also known as: malignant synovioma) is a rare form of cancer which usually occurs... more...

Related Diseases for Sarcoma, Synovial

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Diseases related to Sarcoma, Synovial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1malignant peripheral nerve sheath tumor31.0NES, MMP13
2hemangiopericytoma31.0SSX2, DES
3leiomyosarcoma30.6DES, NES
4mesothelioma30.5DES, KRT14
5sarcoma30.3SS18, SSX1, SSX2, NES, MYCN, DES
6gastrointestinal stromal tumor30.3DES, NES
7rhabdomyosarcoma30.3NES, MYCN, DES
8neurofibromatosis30.2MMP13, KRT14
9ewing sarcoma30.0MYCN, NES, SS18, DES
10papilloma29.9MYCN, KRT13, KRT14
11leukemia29.5KRT14, HMBS, MYCN, NES
12adenocarcinoma28.9KRT13, KRT1, KRT14, HMBS, MMP13, NES
13monophasic synovial sarcoma11.0
16fibrous synovial sarcoma10.5
17epithelioid sarcoma10.4
20desmoplastic small round cell tumor10.4
21kidney hemangiopericytoma10.3SS18, SSX2
22neuroectodermal tumor10.3
25leukoplakia10.3KRT1, KRT13
26lichen planus10.3KRT13, KRT1
27syringoma10.3KRT1, KRT14
28keratoderma10.3KRT14, KRT1
29bowen syndrome10.3KRT14, KRT1
30palmoplantar keratoderma, nonepidermolytic10.2KRT14, KRT1
31fibroma10.2KRT1, DES
34spindle cell sarcoma10.2
35clear cell sarcoma10.2
36tarsal tunnel syndrome10.2
38pulmonary embolism10.2
39ameloblastoma10.2KRT1, KRT14
40mucoepidermoid carcinoma10.2KRT14, KRT13
41cholesteatoma10.2KRT13, KRT14
42pleomorphic adenoma10.1DES, KRT14
43neurilemmoma10.1NES, DES
44rheumatoid arthritis10.1
45huntington disease10.1
46renal cell carcinoma10.1
48acute leukemia10.1
50pulmonary emphysema10.1

Graphical network of the top 20 diseases related to Sarcoma, Synovial:

Diseases related to sarcoma, synovial

Symptoms for Sarcoma, Synovial

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Clinical features from OMIM:


HPO human phenotypes related to Sarcoma, Synovial:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 synovial sarcoma HP:0012570

Drugs & Therapeutics for Sarcoma, Synovial

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Drug clinical trials:

Search ClinicalTrials for Sarcoma, Synovial

Search NIH Clinical Center for Sarcoma, Synovial

Genetic Tests for Sarcoma, Synovial

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Anatomical Context for Sarcoma, Synovial

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Animal Models for Sarcoma, Synovial or affiliated genes

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MGI Mouse Phenotypes related to Sarcoma, Synovial:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8KRT1, SS18, MMP13, MYCN, DES
2MP:00053787.1MYCN, NES, MMP13, SS18, KRT14, KRT1
3MP:00107687.0DES, MYCN, NES, SS18, HMBS, KRT14
4MP:00053766.9KRT1, DES, MYCN, MMP13, SS18, HMBS

Publications for Sarcoma, Synovial

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Variations for Sarcoma, Synovial

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Cosmic variations for Sarcoma, Synovial:

id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
11235288EGFRsoft tissue,fibrous tissue and uncertain origin,sarcoma,spindle3

Expression for genes affiliated with Sarcoma, Synovial

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Search GEO for disease gene expression data for Sarcoma, Synovial.

Pathways for genes affiliated with Sarcoma, Synovial

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Pathways related to Sarcoma, Synovial according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2KRT13, KRT1, KRT14
28.7SSX2, SS18, SSX1, MYCN

Compounds for genes affiliated with Sarcoma, Synovial

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Compounds related to Sarcoma, Synovial according to GeneCards Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1isotretinoin44 1110.8KRT1, KRT14
2mucicarmine449.7DES, KRT14
3hmba449.6HMBS, MYCN
4hematoxylin449.4DES, KRT14, KRT1
5ccl444 2810.3DES, MMP13
6phenylalanine449.2MMP13, KRT14, KRT1
712-o-tetradecanoylphorbol 13-acetate449.1DES, MMP13, KRT1
8glyceraldehyde 3-phosphate449.0HMBS, MMP13, MYCN
9lysine449.0KRT1, KRT14, DES
10doxorubicin44 50 1110.9HMBS, MYCN, DES
11arginine448.9KRT1, KRT14, HMBS, DES
12glucose448.7KRT14, HMBS, NES, DES
13proline448.7DES, SS18, KRT14, KRT1, KRT13
14actinomycin d448.6DES, MYCN, MMP13
15progesterone44 28 60 24 1112.6DES, NES, HMBS, KRT14, KRT1
16iron44 249.6KRT14, HMBS, MYCN, DES
17dopamine44 28 24 1111.6MYCN, NES, HMBS
18retinoid448.5KRT1, KRT14, MMP13, MYCN
19estrogen448.3DES, NES, MMP13, KRT14, KRT1
20vegf448.3DES, MYCN, NES, MMP13
21bromodeoxyuridine448.2DES, MYCN, NES, KRT14, KRT1
22nitric oxide44 24 1110.0HMBS, MMP13, NES, MYCN, DES
23calcium44 50 24 1111.0KRT13, KRT1, KRT14, MMP13, DES
24serine447.6DES, MYCN, MMP13, HMBS, KRT14, KRT1
25tyrosine447.2DES, MYCN, NES, MMP13, SS18, KRT14
26paraffin447.1KRT13, KRT1, KRT14, MMP13, NES, MYCN
27retinoic acid44 248.1DES, MYCN, NES, MMP13, KRT14, KRT1

GO Terms for genes affiliated with Sarcoma, Synovial

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Cellular components related to Sarcoma, Synovial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:00451119.6KRT13, NES
2keratin filamentGO:00450959.1KRT13, KRT1, KRT14
3intermediate filamentGO:00058828.7KRT14, NES, DES

Molecular functions related to Sarcoma, Synovial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.2KRT13, KRT1, NES

Sources for Sarcoma, Synovial

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet