MCID: EXT019
MIFTS: 46

Extraskeletal Myxoid Chondrosarcoma malady

Cancer diseases, Rare diseases categories
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Summaries for Extraskeletal Myxoid Chondrosarcoma

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47OMIM, 33MalaCards
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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 TAF15 (TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa), and among its related pathways is Transcriptional misregulation in cancer. The compounds nor 1 and eosin have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and heart, and related mouse phenotypes are tumorigenesis and integument.

Description from OMIM:47 612237

Aliases & Classifications for Extraskeletal Myxoid Chondrosarcoma

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8Disease Ontology, 10DISEASES, 49Orphanet, 62UMLS, 9diseasecard, 47OMIM, 58SNOMED-CT, 40NCIt, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
extraskeletal myxoid chondrosarcoma:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

extraskeletal myxoid chondrosarcoma 8 10 49 62
chondrosarcoma, extraskeletal myxoid 9 47
myxoid extraosseous chondrosarcoma 8


External Ids:

Disease Ontology8 DOID:6496
OMIM47 612237
NCIt40 C27502
SNOMED-CT58 404079008
SNOMED-CT via Orphanet59 404079008
UMLS via Orphanet63 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma32.0SIX3, TAF15, S100B, NR4A3, MUC1, EWSR1
2sarcoma31.0EWSR1, TAF15, S100B, NR4A3, MUC1, SMARCB1
3chordoma30.8MUC1, S100B
4synovial sarcoma30.5MUC1, S100B
5myxoid chondrosarcoma11.4
6adult extraosseous chondrosarcoma10.4
7epithelial-myoepithelial carcinoma10.4
8extraosseous chondrosarcoma10.4
9parachordoma10.4
10polyneuropathy10.4
11soft tissue sarcoma10.4
12cerebral primitive neuroectodermal tumor10.1EWSR1
13amyotrophic lateral sclerosis10.1TAF15
14fibrous histiocytoma10.1EWSR1
15pleomorphic adenoma10.1PLAGL1
16desmoplastic small round cell tumor10.1EWSR1, MUC1
17clear cell sarcoma10.1S100B, EWSR1
18myoepithelioma10.1EWSR1, S100B
19fibrous meningioma10.0S100B, MUC1
20choroid plexus papilloma10.0MUC1, S100B
21anaplastic ependymoma10.0S100B, MUC1
22spindle cell sarcoma10.0MUC1, S100B
23syringoma10.0S100B, MUC1
24dermatofibrosarcoma protuberans10.0MUC1, S100B
25peripheral primitive neuroectodermal tumor10.0EWSR1, S100B, TAF15
26perineurioma10.0S100B, MUC1
27sex cord-gonadal stromal tumor10.0MUC1, S100B
28hemangiopericytoma10.0S100B, MUC1
29hemangioblastoma10.0MUC1, S100B
30malignant mixed mullerian tumor10.0S100B, MUC1
31giant cell tumor10.0MUC1, S100B
32acute leukemia10.0SMARCB1, EWSR1
33malignant peripheral nerve sheath tumor10.0MUC1, S100B
34malignant fibroxanthoma10.0S100B, MUC1
35epithelioid sarcoma10.0MUC1, SMARCB1
36neurofibroma10.0MUC1, S100B
37rhabdoid tumor10.0MUC1, SMARCB1
38adenoid cystic carcinoma10.0MUC1, S100B
39anaplastic large cell lymphoma10.0MUC1, TFG
40ependymoma10.0S100B, MUC1
41neuroendocrine carcinoma10.0MUC1, S100B
42microphthalmia10.0S100B, SIX3
43rhabdomyosarcoma10.0S100B, SMARCB1, EWSR1
44leiomyosarcoma9.9SMARCB1, MUC1, S100B
45neurilemmoma9.9SMARCB1, MUC1, S100B
46meningioma9.9SMARCB1, MUC1, S100B
47glioblastoma multiforme9.9S100B, SMARCB1, CHI3L1

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



Diseases related to extraskeletal myxoid chondrosarcoma

Symptoms for Extraskeletal Myxoid Chondrosarcoma

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47OMIM
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Clinical features from OMIM:

612237

Drugs & Therapeutics for Extraskeletal Myxoid Chondrosarcoma

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Extraskeletal Myxoid Chondrosarcoma

Search NIH Clinical Center for Extraskeletal Myxoid Chondrosarcoma

Genetic Tests for Extraskeletal Myxoid Chondrosarcoma

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Anatomical Context for Extraskeletal Myxoid Chondrosarcoma

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33MalaCards
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MalaCards organs/tissues related to Extraskeletal Myxoid Chondrosarcoma:

33
Lung, Bone, Heart, Liver, Bone marrow, Breast, Pancreas

Animal Models for Extraskeletal Myxoid Chondrosarcoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Extraskeletal Myxoid Chondrosarcoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7NR4A3, MUC1, SMARCB1, EWSR1
2MP:00107717.8S100B, NR4A3, PLAGL1, MUC1, EWSR1
3MP:00036317.7SMARCB1, TCF12, PRPH, PLAGL1, NR4A3, SIX3

Publications for Extraskeletal Myxoid Chondrosarcoma

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52PubMed
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Articles related to Extraskeletal Myxoid Chondrosarcoma:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Anthracycline-based chemotherapy in extraskeletal myxoid chondrosarcoma: a retrospective study. (24345066)
2013
2
Extraskeletal myxoid chondrosarcoma of the neck. (23230139)
2013
3
Osseous myxochondroid sarcoma: a detailed study of 5 cases of extraskeletal myxoid chondrosarcoma of the bone. (23588370)
2013
4
A novel sarcoma with dual differentiation: clinicopathologic and molecular characterization of a combined synovial sarcoma and extraskeletal myxoid chondrosarcoma. (22743288)
2012
5
Extraskeletal myxoid chondrosarcoma: a review of 23 patients treated at a single referral center with long-term follow-up. (22678528)
2012
6
Multicentric extraskeletal myxoid chondrosarcoma of uterine adnexa in a young female: an unusual presentation. (22499307)
2012
7
Chromosomal translocation-negative cellular extraskeletal myxoid chondrosarcoma in an adolescent female. (22804337)
2012
8
Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion, resembling extraskeletal myxoid chondrosarcoma: Case report with a review of Literature. (23252871)
2012
9
Intrathoracic rupture of an extraskeletal myxoid chondrosarcoma. (21547635)
2011
10
A case of highly aggressive extraskeletal myxoid chondrosarcoma. (21941486)
2011
11
Extraskeletal myxoid chondrosarcoma: a case report of complete remission by chemotherapy and review of the literature. (22315646)
2010
12
Cellular variant of extraskeletal myxoid chondrosarcoma with Ewing's sarcoma-like areas: a diagnostic pitfall in core needle biopsy. (20496272)
2010
13
Fine-needle aspiration cytology of extraskeletal myxoid chondrosarcoma: a case report. (19894252)
2010
14
Extraskeletal myxoid chondrosarcoma of the perineum. (19309044)
2009
15
Extraskeletal myxoid chondrosarcoma: Diagnosis of a rare soft tissue tumor based on fine needle aspiration cytology. (21938148)
2009
16
Extraskeletal myxoid chondrosarcoma of the cerebellopontine angle presenting during pregnancy. (18568733)
2008
17
Testicular metastasis of extraskeletal myxoid chondrosarcoma: report of first case. (18308379)
2008
18
Skeletal recurrences and metastases of extraskeletal myxoid chondrosarcoma. (17437101)
2007
19
Retroperitoneal extraskeletal myxoid chondrosarcoma]. (17175793)
2006
20
Extraskeletal myxoid chondrosarcoma arising from the clavicle. (16786132)
2006
21
Extraskeletal myxoid chondrosarcoma of the nasal cavity. (16816935)
2006
22
Prognosis of extraskeletal myxoid chondrosarcoma. (12820050)
2003
23
Extraskeletal myxoid chondrosarcoma as a second malignancy after bone marrow transplantation. (12652628)
2003
24
Microtubule-associated protein-2 and class III beta-tubulin are expressed in extraskeletal myxoid chondrosarcoma. (12748252)
2003
25
Effusion cytology of metastatic extraskeletal myxoid chondrosarcoma. (12672100)
2003
26
Poorly differentiated extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q11) translocation presenting initially as a solid variant devoid of myxoid areas. (12754636)
2003
27
The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas. (12543801)
2003
28
Extraskeletal myxoid chondrosarcoma of the chest wall masquerading as a breast tumor. A case report. (11917595)
2002
29
Extraskeletal myxoid chondrosarcoma. (11153986)
2001
30
Localization of (99m)Tc HMDP in an extraskeletal myxoid chondrosarcoma: a case report. (11376100)
2001
31
Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation. (11737310)
2001
32
Heart metastasis of extraskeletal myxoid chondrosarcoma. (11259746)
2001
33
Extraskeletal myxoid chondrosarcoma of the knee. (10883455)
2000
34
Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation]. (11038663)
1999
35
Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. (9060841)
1997
36
Der(16)t(1;16)(q21;q13) as a secondary structural aberration in yet a third sarcoma, extraskeletal myxoid chondrosarcoma. (9408761)
1997
37
Translocation (9;22)(q22;q12). A recurrent chromosome abnormality in extraskeletal myxoid chondrosarcoma. (7773957)
1995
38
Extraskeletal myxoid chondrosarcoma with dedifferentiation. (8847071)
1995
39
The diagnosis of extraskeletal myxoid chondrosarcoma by fine needle aspiration. (8520007)
1995
40
Extraskeletal myxoid chondrosarcoma. A clinicopathologic and immunohistochemical study of two cases. (8249186)
1993
41
Extraskeletal myxoid chondrosarcoma. A clinicopathologic study of ten patients with long-term follow-up. (1451062)
1992
42
Unusual extraskeletal myxoid chondrosarcoma. (1373011)
1992
43
Extraskeletal myxoid chondrosarcoma of the epiglottis: case report and review of the literature. (1901157)
1991
44
Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry. (1782363)
1991
45
Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma. (3422040)
1988
46
Intrapulmonary presentation of extraskeletal myxoid chondrosarcoma of the extremity. Report of two cases. (3731040)
1986
47
Aspiration biopsy cytology of metastatic extraskeletal myxoid chondrosarcoma and its cytologic differential diagnosis. (3861047)
1985
48
Extraskeletal myxoid chondrosarcoma with "chordoid" features (chordoid sarcoma). (707436)
1978
49
Mandibular metastasis of an extraskeletal myxoid chondrosarcoma arising on the plantar surface of the foot: report of case. (273676)
1978
50
Extraskeletal myxoid chondrosarcoma. An analysis of 34 cases. (4261659)
1972

Variations for Extraskeletal Myxoid Chondrosarcoma

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Expression for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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2BioGPS, 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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50PathCards, 30KEGG
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Pathways related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TAF15, NR4A3, EWSR1

Compounds for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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45Novoseek
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Compounds related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nor 14510.1NR4A3, EWSR1
2eosin459.2S100B, MUC1
3s 100459.2MUC1, S100B
4reticulin459.1S100B, MUC1
5mucicarmine459.1S100B, MUC1
6b 723459.0MUC1, S100B
7hematoxylin459.0S100B, MUC1
8paraffin458.4S100B, MUC1, EWSR1
9tyrosine458.0TFG, EWSR1, MUC1, NR4A3, S100B

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
1cytoplasmGO:0057377.2EWSR1, MUC1, CHI3L1, PLAGL1, S100B, TAF15
2nucleusGO:0056346.7TAF15, EWSR1, SMARCB1, TCF12, PLAGL1, NR4A3

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

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:0020399.3MUC1, SMARCB1

Products for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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Sources for Extraskeletal Myxoid Chondrosarcoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet