MCID: SRC027
MIFTS: 41

Sarcoma, Synovial malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Sarcoma, Synovial

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NIH Rare Diseases:43 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 sarcoma and malignant peripheral nerve sheath tumor, 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:10 A synovium cancer which develops in the synovial membrane of the joints.

OMIM:47 Synovial sarcomas, which represent approximately 10% of all soft tissue sarcomas, are aggressive spindle cell sarcomas... (300813) more...

Wikipedia:65 A synovial sarcoma (also known as: malignant synovioma) is a rare form of cancer which usually occurs... more...

Aliases & Classifications for Sarcoma, Synovial

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Sources:
47OMIM, 11diseasecard, 10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 49Orphanet, 45Novoseek, 35MeSH, 57SNOMED-CT, 40NCIt, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Sarcoma, Synovial, Aliases & Descriptions:

Name: Sarcoma, Synovial 47 11
Synovial Sarcoma 10 43 12 49
 
Synovialosarcoma 43 49
Sarcoma Synovial 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Orphanet: 49 
Rare tumors


Characteristics (Orphanet epidemiological data):

49
synovial sarcoma:
Inheritance: Not applicable; Age of onset: All ages


External Ids:

OMIM47 300813
Disease Ontology10 DOID:5485
MeSH35 D013584
NCIt40 C3400
SNOMED-CT57 63211008, 302851001
Orphanet49 3273
ICD10 via Orphanet28 C49.9
UMLS via Orphanet63 C0039101

Related Diseases for Sarcoma, Synovial

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.1SS18, SSX1, SSX2, NES, MYCN, DES
2malignant peripheral nerve sheath tumor30.8NES, MMP13
3hemangiopericytoma30.6SSX2, DES
4mesothelioma30.6DES, KRT14
5leiomyosarcoma30.5DES, NES
6rhabdomyosarcoma30.4NES, MYCN, DES
7gastrointestinal stromal tumor30.1DES, NES
8neurofibromatosis30.1MMP13, KRT14
9papilloma30.1MYCN, KRT13, KRT14
10leukemia30.0KRT14, HMBS, MYCN, NES
11adenocarcinoma29.9KRT13, KRT1, KRT14, HMBS, MMP13, NES
12monophasic synovial sarcoma11.0
13mediastinitis10.7
14cervicitis10.5
15fibrous synovial sarcoma10.5
16epithelioid sarcoma10.4
17laryngitis10.4
18thyroiditis10.4
19desmoplastic small round cell tumor10.4
20ewing sarcoma10.3
21neuroectodermal tumor10.3
22pneumothorax10.3
23prostatitis10.3
24chondrosarcoma10.2
25pharyngitis10.2
26spindle cell sarcoma10.2
27clear cell sarcoma10.2
28tarsal tunnel syndrome10.2
29pericarditis10.2
30pulmonary embolism10.2
31rheumatoid arthritis10.1
32renal cell carcinoma10.1
33neuroblastoma10.1
34hiv-110.1
35acute leukemia10.1
36arthritis10.1
37pulmonary emphysema10.1
38neuronitis10.1
39epithelioid cell synovial sarcoma10.1
40biphasic synovial sarcoma10.1
41juvenile rheumatoid arthritis10.1
42mediastinum synovial sarcoma10.1
43spindle cell synovial sarcoma10.1
44tibial adamantinoma10.1
45duodenitis10.1
46hypercalcemia10.1
47obstructive jaundice10.1
48sarcomatoid mesothelioma10.1
49sarcomatoid renal cell carcinoma10.1
50angiomyolipoma10.1

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:

300813

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:

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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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8KRT1, DES, MYCN, MMP13, SS18
2MP:00053787.1KRT1, MYCN, NES, MMP13, SS18, KRT14
3MP:00107687.0KRT1, KRT14, HMBS, SS18, NES, MYCN
4MP:00053766.9DES, MYCN, MMP13, SS18, HMBS, KRT14

Publications for Sarcoma, Synovial

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Variations for Sarcoma, Synovial

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Cosmic variations for Sarcoma, Synovial:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
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/GeneDecks:

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/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1isotretinoin45 1310.8KRT14, KRT1
2mucicarmine459.7DES, KRT14
3hmba459.6MYCN, HMBS
4hematoxylin459.4KRT1, KRT14, DES
5ccl445 3010.3MMP13, DES
6phenylalanine459.2KRT14, MMP13, KRT1
712-o-tetradecanoylphorbol 13-acetate459.1MMP13, DES, KRT1
8glyceraldehyde 3-phosphate459.0HMBS, MMP13, MYCN
9lysine459.0DES, KRT1, KRT14
10doxorubicin45 51 1310.9MYCN, HMBS, DES
11arginine458.9DES, HMBS, KRT14, KRT1
12glucose458.7KRT14, NES, DES, HMBS
13proline458.7KRT14, KRT13, DES, KRT1, SS18
14actinomycin d458.6DES, MMP13, MYCN
15progesterone45 30 61 26 1312.6KRT1, DES, KRT14, HMBS, NES
16iron45 269.6MYCN, DES, KRT14, HMBS
17dopamine45 30 26 1311.6HMBS, NES, MYCN
18retinoid458.5MMP13, KRT14, KRT1, MYCN
19estrogen458.3KRT1, DES, NES, MMP13, KRT14
20vegf458.3DES, MMP13, NES, MYCN
21bromodeoxyuridine458.2MYCN, NES, KRT14, KRT1, DES
22nitric oxide45 26 1310.0HMBS, NES, MYCN, DES, MMP13
23calcium45 51 26 1311.0DES, MMP13, KRT14, KRT1, KRT13
24serine457.6MMP13, MYCN, KRT14, HMBS, DES, KRT1
25tyrosine457.2KRT1, KRT14, SS18, MMP13, NES, MYCN
26paraffin457.1KRT13, MYCN, NES, MMP13, KRT14, KRT1
27retinoic acid45 268.1KRT13, KRT1, KRT14, MMP13, NES, MYCN

GO Terms for genes affiliated with Sarcoma, Synovial

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Cellular components related to Sarcoma, Synovial according to GeneCards/GeneDecks:

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/GeneDecks:

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

Products for genes affiliated with Sarcoma, Synovial

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Sources for Sarcoma, Synovial

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet