MCID: EXT019
MIFTS: 43

Extraskeletal Myxoid Chondrosarcoma malady

Cancer category

Summaries for Extraskeletal Myxoid Chondrosarcoma

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Extraskeletal Myxoid Chondrosarcoma, also known as chondrosarcoma, extraskeletal myxoid, is related to synovial sarcoma and intracranial chondrosarcoma. 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 bone marrow, heart and liver, and related mouse phenotypes are hematopoietic system and nervous system.

Description from OMIM:47 612237

Aliases & Classifications for Extraskeletal Myxoid Chondrosarcoma

Sources:
8Disease Ontology, 10DISEASES, 49Orphanet, 61UMLS, 9diseasecard, 47OMIM, 57SNOMED-CT, 40NCIt, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
chondrosarcoma, extraskeletal myxoid 9 47
myxoid extraosseous chondrosarcoma 8


External Ids:

Disease Ontology8 DOID:6496
OMIM47 612237
NCIt40 C27502
SNOMED-CT57 404079008
SNOMED-CT via Orphanet58 404079008
UMLS via Orphanet62 C1275278

Related Diseases for Extraskeletal Myxoid Chondrosarcoma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1synovial sarcoma30.5EWSR1
2intracranial chondrosarcoma10.6
3adult extraosseous chondrosarcoma10.3
4epithelial-myoepithelial carcinoma10.3
5myoepithelial carcinoma10.3
6extraskeletal mesenchymal chondrosarcoma10.3
7soft tissue sarcoma10.3
8extraskeletal ewing sarcoma10.3
9glomus tumor10.0S100A1
10angiomyolipoma10.0S100A1
11papilloma10.0NR1H2
12thymic carcinoma10.0MUC1
13central nervous system cancer10.0ENO2
14epulis10.0ENO2
15nephrogenic adenoma10.0S100A1
16amyotrophic lateral sclerosis10.0TAF15, FUS
17cerebral primitive neuroectodermal tumor10.0ENO2, EWSR1
18retroperitoneal leiomyosarcoma10.0SMARCB1
19langerhans-cell histiocytosis10.0S100B, S100A1
20rosai-dorfman disease10.0S100B
21desmoplastic small round cell tumor10.0EWSR1, MUC1
22myxoid liposarcoma10.0FUS, EWSR1
23ganglioglioma10.0ENO2, S100B
24cutaneous fibrous histiocytoma10.0S100A1, S100B
25down syndrome10.0S100A1, S100B
26olfactory neuroblastoma10.0S100B, ENO2
27pleomorphic adenoma10.0PLAGL1
28myoepithelioma10.0S100B, S100A1, EWSR1
29fibrous meningioma10.0MUC1, S100B
30choroid plexus papilloma10.0S100B, MUC1
31anaplastic ependymoma10.0S100B, MUC1
32clear cell sarcoma10.0S100B, EWSR1, FUS
33prostate cancer10.0ENO2, NR1H2
34neuroepithelioma10.0EWSR1, ENO2
35spindle cell sarcoma10.0MUC1, S100B
36pineocytoma10.0S100B, ENO2
37rhabdoid tumor10.0SMARCB1, MUC1
38fibrous histiocytoma10.0S100B, FUS
39subependymal giant cell astrocytoma10.0ENO2
40chordoma10.0MUC1, S100A1, S100B
41dermatofibrosarcoma protuberans10.0S100B, S100A1, MUC1
42granular cell tumor10.0ENO2, S100A1, S100B
43lipoma10.0FUS, S100A1, C11orf95
44syringoma10.0S100B, S100A1, MUC1
45malignant peripheral nerve sheath tumor10.0S100B, S100A1, MUC1
46malignant fibroxanthoma10.0MUC1, S100A1, S100B
47pheochromocytoma10.0ENO2
48adenoid cystic carcinoma10.0S100B, S100A1, MUC1
49rhabdoid cancer10.0SMARCB1, ENO2
50gastrointestinal stromal tumor10.0S100B, S100A1, ENO2

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



Diseases related to extraskeletal myxoid chondrosarcoma

Clinical Features for Extraskeletal Myxoid Chondrosarcoma

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612237

Drugs & Therapeutics for Extraskeletal Myxoid Chondrosarcoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Extraskeletal Myxoid Chondrosarcoma

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Extraskeletal Myxoid Chondrosarcoma:

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

Animal Models for Extraskeletal Myxoid Chondrosarcoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Extraskeletal Myxoid Chondrosarcoma:

37
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

Sources:
51PubMed
See all sources

Articles related to Extraskeletal Myxoid Chondrosarcoma:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Extraskeletal myxoid chondrosarcoma of the neck. (23230139)
2013
2
Extraskeletal myxoid chondrosarcoma: a review of 23 patients treated at a single referral center with long-term follow-up. (22678528)
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 of the left buccal mucosa. (22843913)
2012
6
Intrathoracic rupture of an extraskeletal myxoid chondrosarcoma. (21547635)
2011
7
Extraskeletal myxoid chondrosarcoma of the nasopharynx. (21753718)
2011
8
Cellular variant of extraskeletal myxoid chondrosarcoma with Ewing's sarcoma-like areas: a diagnostic pitfall in core needle biopsy. (20496272)
2010
9
Extraskeletal myxoid chondrosarcoma: rare presentation in the knee joint space. (19968226)
2009
10
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
11
The PLAGL1 gene is down-regulated in human extraskeletal myxoid chondrosarcoma tumors. (16112421)
2005
12
Extraskeletal myxoid chondrosarcoma: a report of a gynecologic case. (15992919)
2005
13
Extraskeletal myxoid chondrosarcoma: updated clinicopathological and molecular genetic characteristics. (15998372)
2005
14
Extraskeletal myxoid chondrosarcomas do not show a chondrocytic phenotype. (14657948)
2004
15
Extraskeletal myxoid chondrosarcoma of the jugular foramen. (15581026)
2004
16
Bulbous urethra involved in perineal extraskeletal myxoid chondrosarcoma in a child. (15157219)
2004
17
Microtubule-associated protein-2 and class III beta-tubulin are expressed in extraskeletal myxoid chondrosarcoma. (12748252)
2003
18
Effusion cytology of metastatic extraskeletal myxoid chondrosarcoma. (12672100)
2003
19
Poorly differentiated extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q11) translocation presenting initially as a solid variant devoid of myxoid areas. (12754636)
2003
20
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
21
Fine-needle aspiration cytology of intra-abdominal wall extraskeletal myxoid chondrosarcoma: a case report and review of the literature. (12946219)
2003
22
Intracranial extraskeletal myxoid chondrosarcoma: case report and review of the literature. (12181708)
2002
23
Extraskeletal myxoid chondrosarcoma. (11153986)
2001
24
Heart metastasis of extraskeletal myxoid chondrosarcoma. (11259746)
2001
25
Extraskeletal myxoid chondrosarcoma of the knee. (10883455)
2000
26
Extraskeletal Myxoid Chondrosarcoma with Rhabdoid Features, with Special Reference to Its Aggressive Behavior. (11493979)
2000
27
Expression of the intermediate filament peripherin in extraskeletal myxoid chondrosarcoma. (10728817)
2000
28
Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation]. (11038663)
1999
29
Parachordoma is immunohistochemically and cytogenetically distinct from axial chordoma and extraskeletal myxoid chondrosarcoma. (10478665)
1999
30
Expression of tau proteins and tubulin in extraskeletal myxoid chondrosarcoma, chordoma, and other chondroid tumors. (10439798)
1999
31
Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11). (10602519)
1999
32
Extraskeletal myxoid chondrosarcoma: a reappraisal of its morphologic spectrum and prognostic factors based on 117 cases. (10366145)
1999
33
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. (10537274)
1999
34
Extraskeletal myxoid chondrosarcoma of the knee. (10450885)
1999
35
Extraskeletal myxoid chondrosarcoma: a case report with fine needle aspiration (FNA) cytology. (9134340)
1997
36
Translocation (9;22)(q22;q12). A recurrent chromosome abnormality in extraskeletal myxoid chondrosarcoma. (7773957)
1995
37
Extraskeletal myxoid chondrosarcoma with dedifferentiation. (8847071)
1995
38
Radionuclide imaging in extraskeletal myxoid chondrosarcoma. (7648738)
1995
39
Metastatic extraskeletal myxoid chondrosarcoma. Successful therapy with interferon alfa-2b. (7606973)
1995
40
t(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: evaluation of three cases. (8539235)
1995
41
Extraskeletal myxoid chondrosarcoma with intracisternal microtubules. (8191636)
1994
42
Unusual extraskeletal myxoid chondrosarcoma in a child. (2323742)
1990
43
Extraskeletal myxoid chondrosarcoma--a review of three cases. (2090579)
1990
44
Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma. (3422040)
1988
45
Intrapulmonary presentation of extraskeletal myxoid chondrosarcoma of the extremity. Report of two cases. (3731040)
1986
46
Microtubular aggregates within rough endoplasmic reticulum: an unusual ultrastructural feature of extraskeletal myxoid chondrosarcoma. (3699810)
1986
47
Extraskeletal myxoid chondrosarcoma arising from the retroperitoneum. (3953507)
1986
48
Extraskeletal myxoid chondrosarcoma. A case report with histochemical and ultrastructural features. (6678591)
1983
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

Expression for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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

Pathways for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

Sources:
30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

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

(show all 18)
idCompoundScoreTop Affiliating Genes
1nor 14510.4EWSR1, NR4A3
2askin4510.3ENO2, EWSR1
3eosin4510.2MUC1, S100B
4edss4510.1S100B, ENO2
5mucicarmine4510.1S100B, S100A1, MUC1
6b 7234510.1MUC1, S100A1, S100B
7smcc4510.1NR1H2, ENO2
8reticulin4510.1MUC1, S100B
9s 1004510.0ENO2, MUC1, S100B
10olopatadine45 1111.0S100A1, S100B
11formaldehyde45 2410.8S100B, NR1H2, MUC1, ENO2
12hematoxylin459.8ENO2, MUC1, S100A1, S100B
13toluidine459.5ENO2, S100A1
14paraffin459.5S100B, S100A1, EWSR1, MUC1, ENO2
15zinc45 2410.4S100B, S100A1, EWSR1, NR1H2, PLAGL1, FUS
16progesterone45 60 29 11 2413.3S100B, S100A1, NR1H2, MUC1, ENO2
17testosterone45 60 11 2412.2S100B, NR1H2, MUC1, PLAGL1, ENO2
18retinoic acid45 2410.2S100B, S100A1, EWSR1, NR1H2, MUC1, ENO2

GO Terms for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Extraskeletal Myxoid Chondrosarcoma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet