MCID: EXT019
MIFTS: 48

Extraskeletal Myxoid Chondrosarcoma malady

Cancer diseases category

Summaries for Extraskeletal Myxoid Chondrosarcoma

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46OMIM, 32MalaCards
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MalaCards: Extraskeletal Myxoid Chondrosarcoma, also known as chondrosarcoma, extraskeletal myxoid, is related to chondrosarcoma and sarcoma. An important gene associated with Extraskeletal Myxoid Chondrosarcoma is NR4A3 (nuclear receptor subfamily 4, group A, member 3), and among its related pathways is Transcriptional misregulation in cancer. The compounds nor 1 and askin have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and heart, and related mouse phenotypes are hematopoietic system and nervous system.

Description from OMIM:46 612237

Aliases & Classifications for Extraskeletal Myxoid Chondrosarcoma

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8Disease Ontology, 10DISEASES, 48Orphanet, 60UMLS, 9diseasecard, 46OMIM, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Characteristics (Orphanet epidemiological data):

48
extraskeletal myxoid chondrosarcoma:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

extraskeletal myxoid chondrosarcoma 8 10 48 60
chondrosarcoma, extraskeletal myxoid 9 46
myxoid extraosseous chondrosarcoma 8


External Ids:

Disease Ontology8 DOID:6496
OMIM46 612237
NCIt39 C27502
SNOMED-CT56 404079008
SNOMED-CT via Orphanet57 404079008
UMLS via Orphanet61 C1275278

Related Diseases for Extraskeletal Myxoid Chondrosarcoma

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17GeneCards, 18GeneDecks
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Diseases related to Extraskeletal Myxoid Chondrosarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma32.0S100B, S100A1, EWSR1, NR4A3, MUC1, TAF15
2sarcoma31.1S100B, S100A1, EWSR1, NR4A3, MUC1, TAF15
3chordoma30.7MUC1, S100A1, S100B
4synovial sarcoma30.4EWSR1
5myxoid chondrosarcoma11.4
6intracranial chondrosarcoma10.6
7adult extraosseous chondrosarcoma10.3
8epithelial-myoepithelial carcinoma10.3
9localized chondrosarcoma10.3
10extraskeletal mesenchymal chondrosarcoma10.3
11chondroid chordoma10.3
12extraosseous chondrosarcoma10.3
13mesenchymal chondrosarcoma10.3
14parachordoma10.3
15polyneuropathy10.3
16glomus tumor10.0S100A1
17angiomyolipoma10.0S100A1
18papilloma10.0NR1H2
19thymus cancer10.0MUC1
20central nervous system cancer10.0ENO2
21epulis10.0ENO2
22nephrogenic adenoma10.0S100A1
23amyotrophic lateral sclerosis10.0TAF15, FUS
24cerebral primitive neuroectodermal tumor10.0ENO2, EWSR1
25retroperitoneal leiomyosarcoma10.0SMARCB1
26langerhans-cell histiocytosis10.0S100B, S100A1
27rosai-dorfman disease10.0S100B
28desmoplastic small round cell tumor10.0EWSR1, MUC1
29myxoid liposarcoma10.0FUS, EWSR1
30ganglioglioma10.0ENO2, S100B
31cutaneous fibrous histiocytoma10.0S100A1, S100B
32down syndrome10.0S100A1, S100B
33olfactory neuroblastoma10.0S100B, ENO2
34pleomorphic adenoma10.0PLAGL1
35myoepithelioma10.0S100B, S100A1, EWSR1
36fibrous meningioma10.0MUC1, S100B
37choroid plexus papilloma10.0S100B, MUC1
38anaplastic ependymoma10.0S100B, MUC1
39clear cell sarcoma10.0S100B, EWSR1, FUS
40prostate cancer10.0ENO2, NR1H2
41neuroepithelioma10.0EWSR1, ENO2
42spindle cell sarcoma10.0MUC1, S100B
43pineocytoma10.0S100B, ENO2
44rhabdoid tumor10.0SMARCB1, MUC1
45fibrous histiocytoma10.0S100B, FUS
46subependymal giant cell astrocytoma10.0ENO2
47dermatofibrosarcoma protuberans10.0S100B, S100A1, MUC1
48granular cell tumor10.0ENO2, S100A1, S100B
49lipoma10.0FUS, S100A1, C11orf95
50syringoma10.0S100B, S100A1, MUC1

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



Diseases related to extraskeletal myxoid chondrosarcoma

Clinical Features for Extraskeletal Myxoid Chondrosarcoma

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46OMIM
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Clinical features from OMIM:

612237

Drugs & Therapeutics for Extraskeletal Myxoid Chondrosarcoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Extraskeletal Myxoid Chondrosarcoma

Drug clinical trials:

Search ClinicalTrials for Extraskeletal Myxoid Chondrosarcoma

Search NIH Clinical Center for Extraskeletal Myxoid Chondrosarcoma

Search CenterWatch for Extraskeletal Myxoid Chondrosarcoma

Genetic Tests for Extraskeletal Myxoid Chondrosarcoma

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Anatomical Context for Extraskeletal Myxoid Chondrosarcoma

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32MalaCards
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MalaCards organs/tissues related to Extraskeletal Myxoid Chondrosarcoma:

32
Lung, Bone, Heart, Liver, Bone marrow, Breast, Pancreas

Animal Models for Extraskeletal Myxoid Chondrosarcoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Extraskeletal Myxoid Chondrosarcoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.8NR4A3, NR1H2, CHI3L1, TCF12, TSN, FUS
2MP:00036318.3PRPH, NR4A3, NR1H2, SIX3, PLAGL1, TCF12
3MP:00053848.2SMARCB1, EWSR1, NR4A3, NR1H2, CHI3L1, PLAGL1

Publications for Extraskeletal Myxoid Chondrosarcoma

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50PubMed
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Articles related to Extraskeletal Myxoid Chondrosarcoma:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Extraskeletal myxoid chondrosarcoma: a review of 23 patients treated at a single referral center with long-term follow-up. (22678528)
2012
2
Multicentric extraskeletal myxoid chondrosarcoma of uterine adnexa in a young female: an unusual presentation. (22499307)
2012
3
Intracranial extraskeletal myxoid chondrosarcoma : case report and literature review. (23115670)
2012
4
NR4A3 rearrangement reliably distinguishes between the clinicopathologically overlapping entities myoepithelial carcinoma of soft tissue and cellular extraskeletal myxoid chondrosarcoma. (22569967)
2012
5
Extraskeletal myxoid chondrosarcoma in the lung: asymptomatic lung mass with severe anemia. (22925697)
2012
6
Extraskeletal myxoid chondrosarcoma with systemic metastasis in a five-month-old Irish setter dog. (22446404)
2012
7
Extraskeletal myxoid chondrosarcoma of the nasopharynx. (21753718)
2011
8
Fluorescence in situ hybridization analysis of extraskeletal myxoid chondrosarcomas using EWSR1 and NR4A3 probes. (19775727)
2010
9
Extraskeletal myxoid chondrosarcoma of the heart and review of current literature. (20975880)
2010
10
Extraskeletal myxoid chondrosarcoma of the perineum. (19309044)
2009
11
Supraclavicular extraskeletal myxoid chondrosarcoma presenting with a sensorimotor polyneuropathy associated with anti-Hu antibodies. (19711588)
2009
12
Extraskeletal myxoid chondrosarcoma of the cerebellopontine angle presenting during pregnancy. (18568733)
2008
13
SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. (18580682)
2008
14
An undifferentiated sarcoma in a rat resembling extraskeletal myxoid chondrosarcoma in man. (17676526)
2007
15
Extraskeletal myxoid chondrosarcoma of the nasal cavity. (16816935)
2006
16
Extraskeletal myxoid chondrosarcoma metastatic to the pancreas: a case report. (15810095)
2005
17
Extraskeletal myxoid chondrosarcoma: updated clinicopathological and molecular genetic characteristics. (15998372)
2005
18
TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma. (15188455)
2004
19
Coexpression of NOR1 and SIX3 proteins in extraskeletal myxoid chondrosarcomas without detectable NR4A3 fusion genes. (15262426)
2004
20
Bulbous urethra involved in perineal extraskeletal myxoid chondrosarcoma in a child. (15157219)
2004
21
Extraskeletal myxoid chondrosarcoma as a second malignancy after bone marrow transplantation. (12652628)
2003
22
Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a case report with fine-needle aspiration biopsy, histopathology, electron microscopy, and cytogenetics. (14708728)
2003
23
Extraskeletal myxoid chondrosarcoma of the chest wall masquerading as a breast tumor. A case report. (11917595)
2002
24
Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. (12378528)
2002
25
Intracranial extraskeletal myxoid chondrosarcoma: case report and review of the literature. (12181708)
2002
26
Localization of (99m)Tc HMDP in an extraskeletal myxoid chondrosarcoma: a case report. (11376100)
2001
27
Heart metastasis of extraskeletal myxoid chondrosarcoma. (11259746)
2001
28
Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases. (11679947)
2001
29
Extraskeletal myxoid chondrosarcoma of the knee. (10883455)
2000
30
Phenotypic plasticity and prognostic factors in extraskeletal myxoid chondrosarcoma. (10721413)
2000
31
Fine needle aspiration cytology of primary extraskeletal myxoid chondrosarcoma. A case report. (10834009)
2000
32
Expression of tau proteins and tubulin in extraskeletal myxoid chondrosarcoma, chordoma, and other chondroid tumors. (10439798)
1999
33
Extraskeletal myxoid chondrosarcoma: multimodal diagnosis and identification of a new cytogenetic subgroup characterized by t(9;17)(q22;q11). (10592057)
1999
34
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. (10537274)
1999
35
Extraskeletal myxoid chondrosarcoma of the knee. (10450885)
1999
36
Effective irradiation of a metastatic region of the lung in a patient with extraskeletal myxoid chondrosarcoma. (9711893)
1998
37
Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. (9060841)
1997
38
Extraskeletal myxoid chondrosarcoma: a case report with fine needle aspiration (FNA) cytology. (9134340)
1997
39
Extraskeletal myxoid chondrosarcoma with dedifferentiation. (8847071)
1995
40
The diagnosis of extraskeletal myxoid chondrosarcoma by fine needle aspiration. (8520007)
1995
41
Radionuclide imaging in extraskeletal myxoid chondrosarcoma. (7648738)
1995
42
Metastatic extraskeletal myxoid chondrosarcoma. Successful therapy with interferon alfa-2b. (7606973)
1995
43
Extraskeletal myxoid chondrosarcoma: fine-needle aspiration biopsy findings. (7534681)
1994
44
Extraskeletal myxoid chondrosarcoma. A clinicopathologic study of ten patients with long-term follow-up. (1451062)
1992
45
Extraskeletal myxoid chondrosarcoma of the pleura. Report of a case clinically simulating mesothelioma. (1553915)
1992
46
Aspiration biopsy cytology of metastatic extraskeletal myxoid chondrosarcoma and its cytologic differential diagnosis. (3861047)
1985
47
Extraskeletal myxoid chondrosarcoma. A case report with histochemical and ultrastructural features. (6678591)
1983
48
Extraskeletal myxoid chondrosarcoma--a clinicopathologic and electron microscopic study. (7270148)
1981
49
Extraskeletal myxoid chondrosarcoma with "chordoid" features (chordoid sarcoma). (707436)
1978
50
Extraskeletal myxoid chondrosarcoma. An analysis of 34 cases. (4261659)
1972

Genetic Variations for Extraskeletal Myxoid Chondrosarcoma

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Expression for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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Pathways for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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29KEGG
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Pathways related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FUS, TAF15, NR4A3, EWSR1

Compounds for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1nor 14410.4EWSR1, NR4A3
2askin4410.3ENO2, EWSR1
3eosin4410.2MUC1, S100B
4edss4410.1S100B, ENO2
5mucicarmine4410.1S100B, S100A1, MUC1
6b 7234410.1MUC1, S100A1, S100B
7smcc4410.1NR1H2, ENO2
8reticulin4410.1MUC1, S100B
9s 1004410.0ENO2, MUC1, S100B
10olopatadine44 1111.0S100A1, S100B
11formaldehyde44 2410.8S100B, NR1H2, MUC1, ENO2
12hematoxylin449.8ENO2, MUC1, S100A1, S100B
13toluidine449.5ENO2, S100A1
14paraffin449.5S100B, S100A1, EWSR1, MUC1, ENO2
15zinc44 2410.4S100B, S100A1, EWSR1, NR1H2, PLAGL1, FUS
16progesterone44 59 28 11 2413.3S100B, S100A1, NR1H2, MUC1, ENO2
17testosterone44 59 11 2412.2S100B, NR1H2, MUC1, PLAGL1, ENO2
18retinoic acid44 2410.2S100B, S100A1, EWSR1, NR1H2, MUC1, ENO2

GO Terms for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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16Gene Ontology
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Cellular components related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.0SMARCB1, S100A1, EWSR1, NR4A3, NR1H2, TAF15

Molecular functions related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:0445489.7S100B, S100A1
2identical protein bindingGO:0428029.4FUS, TFG, EWSR1, S100A1, S100B
3protein bindingGO:0055157.9S100A1, EWSR1, NPM3, TFG, NR1H2, MUC1

Products for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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Sources for Extraskeletal Myxoid Chondrosarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet