Extraskeletal Myxoid Chondrosarcoma malady

MalaCards: Extraskeletal Myxoid Chondrosarcoma, also known as extraskeletal myxoid chondrosarcoma (disorder), is related to mesenchymal chondrosarcoma and clear cell chondrosarcoma. An important gene associated with Extraskeletal Myxoid Chondrosarcoma is NR4A3 (nuclear receptor subfamily 4, group A, member 3). The compounds nor 1 and askin have been mentioned in the context of this disorder. Affiliated tissues include t cells, and related mouse phenotypes are hematopoietic system and behavior/neurological.

OMIM: 612237

Aliases & Descriptions:

extraskeletal myxoid chondrosarcoma 6 8 43 extraskeletal myxoid chondrosarcoma (disorder) 6 chondrosarcoma, extraskeletal myxoid 33

myxoid extraosseous chondrosarcoma 6 chondrosarcoma 43

Diseases related to extraskeletal myxoid chondrosarcoma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 249)

id	Related Disease	Score	Top Affiliating Genes
1	mesenchymal chondrosarcoma	32.7	VIM, MUC1
2	clear cell chondrosarcoma	31.2	VIM, CD36
3	soft tissue sarcoma	30.5	VIM, S100B, EWSR1, SMARCB1
4	parachordoma	30.4	VIM, MUC1, S100B, MYH11
5	chordoma	29.8	VIM, MUC1, S100A1, S100B, MAPT, EWSR1
6	chondroid chordoma	28.3	VIM, MUC1, S100A1, S100B
7	chondrosarcoma	28.2	VIM, CHI3L1, MUC1, S100A1, S100B, FUS
8	myxoid chondrosarcoma	28.2	VIM, CHI3L1, MUC1, S100A1, S100B, FUS
9	osteosarcoma	27.0	VIM, MUC1, S100A1, S100B, CD36, ENO2
10	bone cancer	26.6	CD36, ENO2, EWSR1
11	angiosarcoma	26.1	VIM, MUC1, S100B
12	hypoxia	25.8	MUC1, S100B, CD36, EWSR1, ESRRB, NR1H2
13	rhabdomyosarcoma	24.8	VIM, S100A1, S100B, FUS, ENO2, EWSR1
14	sarcoma	24.4	VIM, MUC1, S100A1, S100B, FUS, CD36
15	squamous cell carcinoma	22.3	VIM, CHI3L1, MUC1, S100A1, S100B, CD36
16	thyroiditis	20.7	VIM, MUC1, S100A1, S100B, FUS, CD36
17	carcinoma	19.5	VIM, CHI3L1, MUC1, S100A1, S100B, CD36
18	myxoid liposarcoma of the ovary	13.4	FUS, EWSR1
19	extraosseous ewing's sarcoma	13.4	S100B, EWSR1
20	langerhans-cell histiocytosis	13.3	S100A1, S100B
21	retroperitoneal leiomyosarcoma	13.3	S100A1, SMARCB1
22	meningeal melanocytoma	13.3	S100B, ENO2
23	askin's tumor	13.3	S100B, ENO2
24	desmoplastic small round cell tumor	13.2	MUC1, EWSR1
25	central nervous system hemangioblastoma	13.2	MUC1, PLAGL1
26	cutaneous fibrous histiocytoma	13.2	S100A1, S100B
27	epithelioid malignant peripheral nerve sheath tumor	13.2	S100B, SMARCB1
28	kidney clear cell sarcoma	13.2	S100B, FUS, EWSR1
29	lung benign neoplasm	13.1	VIM, ENO2
30	pleomorphic liposarcoma	13.1	VIM, FUS
31	papillary cystic tumor	13.1	VIM, ENO2
32	epithelioid leiomyosarcoma	13.1	VIM, ENO2
33	fibrous meningioma	13.1	MUC1, S100B
34	melanotic neuroectodermal tumor	13.1	VIM, ENO2
35	intraneural perineurioma	13.1	MUC1, S100B
36	orbit rhabdomyosarcoma	13.1	VIM, ENO2
37	salivary adenoma	13.1	VIM, S100B
38	spindle cell lipoma	13.1	VIM, S100A1
39	alveolar soft part sarcoma	13.1	VIM, ENO2
40	choroid plexus carcinoma	13.1	VIM, SMARCB1
41	anaplastic ependymoma	13.0	MUC1, S100B
42	choroid plexus papilloma	13.0	MUC1, S100B
43	clear cell ependymoma	13.0	VIM, MUC1
44	prostate stromal sarcoma	13.0	VIM, MUC1
45	rhabdoid cancer	13.0	VIM, SMARCB1
46	adenoid squamous cell carcinoma	13.0	VIM, MUC1
47	endometrial mucinous adenocarcinoma	13.0	VIM, MUC1
48	clear cell meningioma	13.0	VIM, MUC1
49	giant cell glioblastoma	13.0	VIM, S100B
50	nodular hidradenoma	12.9	VIM, MUC1

Clinical features from OMIM: 612237

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to extraskeletal myxoid chondrosarcoma:

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MGI Mouse Phenotypes related to extraskeletal myxoid chondrosarcoma:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	8.9	TSN, SMARCB1, NR4A3, EWSR1, FUS
2	behavior/neurological phenotype	MP:0005386	7.7	VIM, TSN, NR4A3, ESRRB, MAPT, ENO2
3	integument phenotype	MP:0010771	7.6	MYH11, PLAGL1, NR4A3, NR1H2, EWSR1, MAPT
4	muscle phenotype	MP:0005369	7.2	VIM, S100A1, CD36, MAPT, EWSR1, NR1H2
5	mortality/aging	MP:0010768	7.0	SMARCB1, PLAGL1, SIX3, MYH11, NR4A3, ESRRB
6	immune system phenotype	MP:0005387	6.6	TSN, SMARCB1, NR4A3, NR1H2, EWSR1, MAPT
7	nervous system phenotype	MP:0003631	6.3	SIX3, PRPH, PLAGL1, SMARCB1, NR4A3, NR1H2
8	cellular phenotype	MP:0005384	6.1	NR1H2, NR4A3, SMARCB1, PLAGL1, TSN, EWSR1

Articles related to extraskeletal myxoid chondrosarcoma:

(show all 23)

id	Title	Authors	Year	Affiliating Genes
1	Fluorescence in situ hybridization is a useful ancillary diagnostic tool for extraskeletal myxoid chondrosarcoma. (18587326)	Wang W.L.... Lazar A.J.	2008	EWSR1
2	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)	Kohashi K.... Tsuneyoshi M.	2008	SMARCB1, EWSR1
3	Retroperitoneal extraskeletal myxoid chondrosarcoma (17175793)	Fornari A.	2006	ENO2
4	The PLAGL1 gene is down-regulated in human extraskeletal myxoid chondrosarcoma tumors. (16112421)	Poulin H.... Labelle Y.	2005	PLAGL1, EWSR1
5	TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma. (15188455)	Hisaoka M.... Hashimoto H.	2004	TFG
6	Extraskeletal myxoid chondrosarcomas do not show a chondrocytic phenotype. (14657948)	Aigner T.... Nascimento A.G.	2004	S100B, CD36
7	Coexpression of NOR1 and SIX3 proteins in extraskeletal myxoid chondrosarcomas without detectable NR4A3 fusion genes. (15262426)	Hisaoka M.... Hashimoto H.	2004	ESRRB, NR4A3, SIX3
8	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)	Laflamme C.... Labelle Y.	2003	NR1H2, NR4A3, SIX3
9	Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma-cytogenetic, molecular genetic, and cDNA microarray analyses. (12598313)	Sjogren H.... Stenman G.	2003	CHI3L1
10	Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. (12378528)	Panagopoulos I.... Mandahl N.	2002	EWSR1, TAF15, NR4A3
11	Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation. (11737310)	Goh Y.W.... Nascimento A.G.	2001	VIM, MUC1, S100A1
12	Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). (11156374)	Sjogren H.... Kindblom J.M.	2000	EWSR1, TAF15, NR4A3
13	Expression of the intermediate filament peripherin in extraskeletal myxoid chondrosarcoma. (10728817)	Cummings T.J.... Prieto V.G.	2000	PRPH
14	Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a pathologic, cytogenetic, and molecular study of a case with a novel translocation t(9;17)(q22;q11.2). (10895826)	Harris M.... Telford N.	2000	TAF15
15	Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. (10602520)	Attwooll C.... Varley J.M.	1999	EWSR1
16	Parachordoma is immunohistochemically and cytogenetically distinct from axial chordoma and extraskeletal myxoid chondrosarcoma. (10478665)	Folpe A.L.... Weiss S.W.	1999	MYH11
17	Expression of tau proteins and tubulin in extraskeletal myxoid chondrosarcoma, chordoma, and other chondroid tumors. (10439798)	Hu B.... French S.W.	1999	MAPT
18	Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11). (10602519)	Panagopoulos I.... Heim S.	1999	FUS, EWSR1, TAF15
19	Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. (10537274)	Sjogren H.... Stenman G.	1999	EWSR1, TAF15, NR4A3
20	Skeletal and extraskeletal myxoid chondrosarcoma: related or distinct tumors? (10410173)	Rubin B.P.... Fletcher J.A.	1999	EWSR1, NR4A3
21	Skeletal and extraskeletal myxoid chondrosarcoma: a comparative clinicopathologic, ultrastructural, and molecular study. (9781944)	Antonescu C.R.... Huvos A.G.	1998	EWSR1, NR4A3
22	Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. (9060841)	Brody R.I.... Ladanyi M.	1997	EWSR1
23	Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma. (7635565)	Stenman G.... Kindblom L.G.	1995	EWSR1

Genes related to extraskeletal myxoid chondrosarcoma according to GeneCards:

(show all 22)

id	Symbol	Description	Score	GeneCards Section Context
1	NR4A3	nuclear receptor subfamily 4, group A, member 3	11.1	Summaries, Publications
2	TAF15	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	11.1	Summaries, Publications
3	SIX3	SIX homeobox 3	11.0	Publications
4	PRPH	peripherin	11.0	Publications
5	TSN	translin	11.0	Publications
6	TDRKH	tudor and KH domain containing	11.0	Publications
7	EWSR1	Ewing sarcoma breakpoint region 1	11.0	Publications
8	TFG	TRK-fused gene	11.0	Publications
9	CHI3L1	chitinase 3-like 1 (cartilage glycoprotein-39)	11.0	Publications
10	PLAGL1	pleiomorphic adenoma gene-like 1	11.0	Publications
11	S100A1	S100 calcium binding protein A1	11.0	Publications
12	ESRRB	estrogen-related receptor beta	11.0	Publications
13	FUS	fused in sarcoma	11.0	Publications
14	MYH11	myosin, heavy chain 11, smooth muscle	11.0	Publications
15	SMARCB1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	11.0	Publications
16	S100B	S100 calcium binding protein B	11.0	Publications
17	ENO2	enolase 2 (gamma, neuronal)	11.0	Publications
18	MAPT	microtubule-associated protein tau	11.0	Functions, Publications
19	MUC1	mucin 1, cell surface associated	11.0	Publications
20	NR1H2	nuclear receptor subfamily 1, group H, member 2	11.0	Publications
21	CD36	CD36 molecule (thrombospondin receptor)	11.0	Publications
22	VIM	vimentin	11.0	Publications

Compounds related to extraskeletal myxoid chondrosarcoma according to GeneDecks:

(show all 45)

id	Compound	Score	Top Affiliating Genes
1	nor 132	10.2	EWSR1, ESRRB, NR4A3
2	askin32	10.2	ENO2, EWSR1
3	edss32	10.0	ENO2, S100B
4	acth32	9.9	MUC1, ESRRB
5	orcein32	9.9	S100B, VIM
6	ecdysone32	9.8	ESRRB, NR1H2
7	smcc32	9.8	NR1H2, ENO2
8	toluidine32	9.7	VIM, S100A1, ENO2
9	progesterone32 42 9 18 9	13.7	S100A1, S100B, ESRRB, MYH11
10	eosin32	9.5	S100B, MUC1, VIM
11	reticulin32	9.4	S100B, MUC1, VIM
12	colchicine32 9 9	11.3	MAPT, S100B, VIM
13	mucicarmine32	9.2	S100B, S100A1, MUC1, VIM
14	b 72332	9.2	S100B, S100A1, MUC1, VIM
15	s 10032	9.1	ENO2, S100B, MUC1, VIM
16	4-hydroxytamoxifen32	9.1	VIM, S100B, ESRRB, NR1H2
17	choline32 9 18 9	12.0	VIM, S100B, ENO2, MAPT
18	hydroxyapatite32	8.8	CD36, S100B, VIM
19	acetylcholine32 9 18 9	11.8	MAPT, ENO2, S100B, S100A1, VIM
20	15-deoxy-delta-12,14-prostaglandin j232	8.7	MYH11, NR1H2, CD36
21	leucine32	8.7	VIM, S100B, FUS, ENO2, TSN
22	phosphatidylserine32 9 9	10.7	MAPT, CD36, S100A1, VIM
23	folate32	8.7	VIM, MUC1, MAPT, NR1H2
24	methotrexate32 34 42 9 9	12.6	NR1H2, ENO2, MUC1, VIM
25	hematoxylin32	8.5	MYH11, ENO2, S100B, S100A1, MUC1, VIM
26	dmso32	8.5	VIM, MUC1, CD36, ENO2
27	dopamine32 9 18 9	11.4	NR1H2, ESRRB, MAPT, ENO2, S100B
28	gnrh32	8.4	VIM, CD36, ESRRB, NR1H2
29	hyaluronic acid32 18	9.4	ENO2, CD36, MUC1, CHI3L1, VIM
30	hydrocortisone32 9 9	10.3	NR1H2, CD36, MUC1, VIM
31	glycogen32 18	9.3	MAPT, ENO2, S100B, S100A1, MUC1, VIM
32	zinc32 18	9.1	PLAGL1, NR1H2, ESRRB, EWSR1, MAPT, FUS
33	glutamine32	8.0	EWSR1, MAPT, ENO2, CD36, S100B, VIM
34	nitric oxide32 9 18 9	11.0	MYH11, ENO2, S100B, S100A1, MUC1, CHI3L1
35	formaldehyde32 18	9.0	NR1H2, MAPT, ENO2, S100B, MUC1, VIM
36	creatinine32	7.7	MAPT, ENO2, CD36, S100B, MUC1, VIM
37	testosterone32 9 18 9	10.7	PLAGL1, NR1H2, MAPT, ENO2, S100B, MUC1
38	heparin32 9 18 9	10.6	NR1H2, MAPT, ENO2, CD36, S100B, VIM
39	dexamethasone32 42 34 9 9	11.3	NR1H2, ESRRB, ENO2, CD36, S100B, MUC1
40	vegf32	7.2	MYH11, NR1H2, ENO2, CD36, S100B, MUC1
41	cysteine32	7.2	NR1H2, MAPT, CD36, S100B, S100A1, MUC1
42	paraffin32	7.0	VIM, MYH11, EWSR1, MAPT, ENO2, CD36
43	serine32	6.5	MYH11, NR1H2, EWSR1, MAPT, CD36, S100B
44	retinoic acid32 42 18	8.1	EWSR1, ESRRB, NR1H2, MYH11, MAPT, ENO2
45	estrogen32	6.1	MYH11, NR1H2, ESRRB, MAPT, ENO2, CD36

Molecular functions related to extraskeletal myxoid chondrosarcoma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	S100 protein binding	GO:044548	9.8	S100A1, S100B
2	steroid hormone receptor activity	GO:003707	9.1	ESRRB, NR1H2, NR4A3
3	lipoprotein particle binding	GO:071813	9.1	CD36, MAPT