MCID: CHN012
MIFTS: 63

Chondrosarcoma malady

Genetic diseases, Rare diseases, Bone diseases, Cancer diseases categories
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Summaries for Chondrosarcoma

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A connective tissue cancer that has physical basis in cells derived from transformed cells that produce cartilage.

MalaCards: Chondrosarcoma, also known as primary chondrosarcoma of the bone, is related to mesenchymal chondrosarcoma and chordoma. An important gene associated with Chondrosarcoma is EXT1 (exostosin glycosyltransferase 1), and among its related pathways are Chromatin Regulation / Acetylation and Transcriptional misregulation in cancer. The compounds tartrate and toluidine have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and breast, and related mouse phenotypes are vision/eye and tumorigenesis.

Wikipedia:65 Chondrosarcoma is a cancer composed of cells derived from transformed cells that produce cartilage.... more...

Description from OMIM:47 215300

Aliases & Classifications for Chondrosarcoma

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
chondrosarcoma:
Prevalence: 1-9/100000


Aliases & Descriptions:

chondrosarcoma 8 9 43 22 47 10 45 49 62
primary chondrosarcoma of the bone 8
primary chondrosarcoma of bone 8
chondrosarcoma of bone 8


External Ids:

Disease Ontology8 DOID:3371
MeSH35 D002813
NCIt40 C2946
OMIM47 215300
SNOMED-CT via Orphanet59 447792005, 443520009
MESH via Orphanet36 D002813
UMLS via Orphanet63 C0008479

Related Diseases for Chondrosarcoma

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17GeneCards, 18GeneDecks
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Diseases in the Chondrosarcoma family:

Localized Chondrosarcoma

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

(show top 50)    (show all 176)
idRelated DiseaseScoreTop Affiliating Genes
1mesenchymal chondrosarcoma31.7MUC1, DES, VIM
2chordoma30.8DES, VIM, MUC1, S100B
3fibroma30.4DES, VIM
4sarcoma30.4EXT1, TAF15, NR4A3, MUC1, DES, FUS
5fibrosarcoma30.3DES, VIM, CD36
6giant cell tumor30.3MUC1, S100B, VIM, DES
7synovial sarcoma30.1EWSR1
8rhabdomyosarcoma30.1S100B, VIM, SMARCB1, EWSR1, DES
9alveolar soft part sarcoma29.9DES, VIM
10angiosarcoma29.9MUC1, VIM
11ependymoma29.9VIM, MUC1, S100B
12hemangiopericytoma29.8VIM, DES, MUC1, S100B
13bone carcinoma29.8EXT1, CD36
14meningioma29.8SMARCB1, MUC1, VIM, S100B
15rhabdoid tumor29.8DES, SMARCB1, VIM, MUC1
16clear cell sarcoma29.8S100B, EWSR1, FUS
17lipoma29.8DES, FUS
18leiomyosarcoma29.7VIM, MUC1, DES, S100B, SMARCB1
19liposarcoma29.7FUS, DES, EWSR1, VIM
20myxoid chondrosarcoma11.0
21extraskeletal myxoid chondrosarcoma11.0
22clear cell chondrosarcoma10.8
23extraskeletal mesenchymal chondrosarcoma10.7
24enchondroma10.6
25osteosarcoma10.6
26periostitis10.5
27intracranial chondrosarcoma10.5
28periosteal chondrosarcoma10.5
29synovial chondromatosis10.5
30osteochondroma10.5
31juxtacortical chondrosarcoma10.5
32chondroma10.4
33cervicitis10.4
34laryngitis10.4
35extraosseous chondrosarcoma10.3
36hereditary multiple exostoses10.3
37exostosis10.3
38meningitis10.3
39chondroblastoma10.3
40ollier disease10.2
41endotheliitis10.2
42adult myxoid chondrosarcoma10.2
43chondroid chordoma10.2
44adult mesenchymal chondrosarcoma10.2
45chondroblastic osteosarcoma10.2
46thyroiditis10.2
47hypoxia10.2
48adenomatoid tumor10.1VIM
49osteofibrous dysplasia10.1CD36
50hidradenoma10.1MUC1

Graphical network of the top 20 diseases related to Chondrosarcoma:



Diseases related to chondrosarcoma

Symptoms for Chondrosarcoma

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47OMIM
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Symptoms by clinical synopsis from OMIM:

215300

Clinical features from OMIM:

215300

Drugs & Therapeutics for Chondrosarcoma

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Chondrosarcoma

Search NIH Clinical Center for Chondrosarcoma

Genetic Tests for Chondrosarcoma

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22GTR
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Genetic tests related to Chondrosarcoma:

id Genetic test Affiliating Genes
1 Chondrosarcoma22

Anatomical Context for Chondrosarcoma

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33MalaCards
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MalaCards organs/tissues related to Chondrosarcoma:

33
Bone, Lung, Breast, Endothelial, Kidney, Thyroid, Heart, Pancreas, Liver, Cerebellum, Brain, Spinal cord, Bone marrow, Tongue, Lymph node, T cells, Testis, Uterus, Ovary, Skin, Spleen, Colon, Trachea

Animal Models for Chondrosarcoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Chondrosarcoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9SMARCB1, VIM, MUC1, SIX3, EXT1, CD36
2MP:00020068.7EWSR1, SMARCB1, MUC1, NR4A3, EXT1
3MP:00053818.7SMARCB1, MUC1, SIX3, EXT1, CD36
4MP:00053808.2SMARCB1, ESRRB, VIM, NR4A3, SIX3, EXT1
5MP:00036317.8CD36, EXT1, SIX3, NR4A3, VIM, SMARCB1
6MP:00053847.7FUS, EWSR1, SMARCB1, VIM, NR4A3, EXT1
7MP:00053867.6DES, FUS, ESRRB, VIM, NR4A3, S100B
8MP:00053787.5FUS, EWSR1, SMARCB1, ESRRB, VIM, NR4A3
9MP:00107686.9CD36, DES, FUS, EWSR1, SMARCB1, ESRRB

Publications for Chondrosarcoma

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52PubMed
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Articles related to Chondrosarcoma:

(show top 50)    (show all 1217)
idTitleAuthorsYear
1
Analysis of microRNAs expressions in chondrosarcoma. (23940002)
2013
2
Transformation of solitary osteochondroma to dedifferentiated chondrosarcoma arising in the distal radius: a case report. (23007379)
2013
3
MR differentiation of low-grade chondrosarcoma from enchondroma. (23041161)
2013
4
Epithelial and cartilaginous differentiation in clear cell chondrosarcoma. (22944296)
2013
5
Chondrosarcoma of the maxilla: A case report and review of literature. (24250092)
2013
6
Does Ifosfamide Therapy Improve Survival of Patients With Dedifferentiated Chondrosarcoma? (24197392)
2013
7
Benign looking giant cell component in dedifferentiated chondrosarcoma: benign or malignant? A case report. (22736299)
2013
8
Primary spinal extra-osseous intradural mesenchymal chondrosarcoma in a young boy. (24082926)
2013
9
Preoperative radiographic and histopathologic evaluation of central chondrosarcoma. (23820853)
2013
10
99mTc-NTP 15-5 assessment of the early therapeutic response of chondrosarcoma to zoledronic acid in the Swarm rat orthotopic model. (23688107)
2013
11
Metastatic chondrosarcoma - current aspects of a rare event in dermatopathology. (22050202)
2012
12
Total scapulectomy for the treatment of chondrosarcoma in a cat. (22812474)
2012
13
CCL2 increases MMP-9 expression and cell motility in human chondrosarcoma cells via the Ras/Raf/MEK/ERK/NF-I_B signaling pathway. (22138288)
2012
14
NYESO-1/LAGE-1s and PRAME are targets for antigen specific T cells in chondrosarcoma following treatment with 5-Aza-2-deoxycitabine. (22384167)
2012
15
CCN6 enhances ICAM-1 expression and cell motility in human chondrosarcoma cells. (21391218)
2012
16
Intraparenchymal mesenchymal chondrosarcoma in an unusual location. (22406804)
2012
17
Diagnostic pitfall in the diagnosis of mesenchymal chondrosarcoma arising in the central nervous system. (21615516)
2012
18
Inhibition of chondrosarcoma growth by mTOR inhibitor in an in vivo syngeneic rat model. (22761648)
2012
19
Spinal chondrosarcoma: a review. (21437176)
2011
20
I+-Mangostin induces apoptosis in human chondrosarcoma cells through downregulation of ERK/JNK and Akt signaling pathway. (21446759)
2011
21
A case of cerebral embolism with metastatic chondrosarcoma in the left atrium. (20807491)
2011
22
Intrathoracic rupture of an extraskeletal myxoid chondrosarcoma. (21547635)
2011
23
Free fibular graft reconstruction following resection of chondrosarcoma in the first metacarpal. (22072475)
2011
24
Galectin-1 is a powerful marker to distinguish chondroblastic osteosarcoma and conventional chondrosarcoma. (20399482)
2010
25
Non-skeletal multicentric chondrosarcoma in the hindlimb of a dog. (21029099)
2010
26
Fine-needle aspiration biopsy diagnosis of costal juxtacortical chondrosarcoma presenting as an abdominal mass. (20187114)
2010
27
Chordoma and chondrosarcoma gene profile: implications for immunotherapy. (18641983)
2009
28
Immunohistochemical expression of estrogen receptors in chondrosarcomas and enchondromas. (18203781)
2008
29
Alendronate inhibits cell invasion and MMP-2 secretion in human chondrosarcoma cell line. (17640487)
2007
30
Retroperitoneal extraskeletal myxoid chondrosarcoma]. (17175793)
2006
31
Extraskeletal myxoid chondrosarcoma arising from the clavicle. (16786132)
2006
32
Femoral mesenchymal chondrosarcoma with secondary aneurysmal bone cysts mimicking a small-cell osteosarcoma. (16328381)
2006
33
siRNA mediated inhibition of MMP-1 reduces invasive potential of a human chondrosarcoma cell line. (15499569)
2005
34
Clear cell chondrosarcoma of the larynx: a case report of a rare histologic variant in an uncommon localization. (11859213)
2002
35
Specific loss of chondromodulin-I gene expression in chondrosarcoma and the suppression of tumor angiogenesis and growth by its recombinant protein in vivo. (10570955)
1999
36
Enchondroma versus chondrosarcoma in the appendicular skeleton: differentiating features. (9747616)
1998
37
Myxoid chondrosarcoma (chordoid sarcoma) of bone: a report of two cases and review of the literature. (9149016)
1997
38
DNA flow cytometric analysis of chest-wall chondroma and chondrosarcoma. (8976036)
1996
39
Loss of heterozygosity and tumor suppressor gene mutations in chondrosarcomas. (8712735)
1996
40
Intracranial chondrosarcoma. (8585986)
1995
41
Translocation (9;22)(q22;q12). A recurrent chromosome abnormality in extraskeletal myxoid chondrosarcoma. (7773957)
1995
42
Extraskeletal mesenchymal chondrosarcoma of the orbit. (8374880)
1993
43
Clear-cell chondrosarcoma. (2352908)
1990
44
Clear cell chondrosarcoma. A case report with topographic analysis. (2816367)
1989
45
Chondroid chordoma: a low-grade chondrosarcoma and its differential diagnosis. (2673669)
1989
46
Mesenchymal chondrosarcoma: a case report. (3467042)
1987
47
Metastatic extraosseous myxoid chondrosarcoma of spermatic cord. (4035849)
1985
48
Microtubular aggregates in the rough endoplasmic reticulum of a myxoid chondrosarcoma. (6927668)
1980
49
Chondrosarcoma arising in histologically proved unicameral bone cyst. A case report. (4433370)
1974
50
Mesenchymal chondrosarcoma. (5049459)
1972

Variations for Chondrosarcoma

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Chondrosarcoma:

64
id Symbol AA change Variation ID SNP ID
1EXT1p.Asn316SerVAR_012820

Clinvar genetic disease variations for Chondrosarcoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1EXT1NM_000127.2(EXT1): c.528_535delCAAAGTGC (p.Lys177Glufs)deletionPathogenicGRCh37Chr 8, 119122751: 119122758

Expression for genes affiliated with Chondrosarcoma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrosarcoma

Search GEO for disease gene expression data for Chondrosarcoma.

Pathways for genes affiliated with Chondrosarcoma

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50PathCards, 5Cell Signaling Technology, 30KEGG
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Pathways related to Chondrosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2SMARCB1, EWSR1, FUS
28.8TAF15, NR4A3, EWSR1, FUS

Compounds for genes affiliated with Chondrosarcoma

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45Novoseek, 51PharmGKB, 11DrugBank, 3BitterDB, 61Tocris Bioscience, 24HMDB, 29IUPHAR
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Compounds related to Chondrosarcoma according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1tartrate4510.2CD36, VIM
2toluidine4510.2DES, VIM
3silicone4510.1CD36, VIM
4eosin4510.1VIM, MUC1, S100B
5hydroxyapatite4510.0CD36, S100B, VIM
6keratan sulfate4510.0DES, CD36
7acetone4510.0MUC1, CD36
8orcein4510.0DES, VIM, S100B
9cytarabine45 51 1112.0CD36, MUC1, VIM
10titanium4510.0CD36, VIM
11hydrocortisone45 3 61 1113.0MUC1, CD36, VIM
12progestin4510.0MUC1, VIM, DES
13dermatan sulfate4510.0VIM, DES, CD36
14procollagen459.9DES, VIM, CD36
15biotin45 24 1111.9MUC1, VIM, DES
16heparan sulfate45 2410.9DES, VIM, EXT1
174-hydroxytamoxifen459.9ESRRB, VIM, S100B
18dihydrotestosterone45 29 24 1112.9DES, VIM, MUC1
19bromodeoxyuridine459.9DES, S100B, VIM
20phalloidin459.9VIM, DES
21dmso459.8MUC1, CD36, VIM
22s 100459.7S100B, MUC1, DES, VIM
23reticulin459.7VIM, MUC1, DES, S100B
24mucicarmine459.7S100B, MUC1, VIM, DES
25b 723459.7DES, MUC1, S100B, VIM
26hematoxylin459.7MUC1, VIM, DES, S100B
27formaldehyde45 2410.7VIM, DES, MUC1, S100B
28adriamycin459.7VIM, DES, MUC1, CD36
29hyaluronic acid45 2410.7CD36, DES, VIM, MUC1
30glycogen45 2410.7DES, VIM, MUC1, S100B
31acth459.6S100B, MUC1, ESRRB
32glutamine459.6VIM, S100B, CD36, EWSR1
33nor 1459.5NR4A3, EWSR1, ESRRB
34estradiol45 24 1111.5ESRRB, VIM, MUC1, DES
35heparin45 29 24 1112.5S100B, EXT1, CD36, VIM, DES
36creatinine459.4DES, MUC1, S100B, VIM, CD36
37chloramphenicol45 3 51 1112.4VIM, MUC1, S100B
38gnrh459.4VIM, ESRRB, CD36
39arginine459.4DES, VIM, S100B, EXT1, EWSR1
40vegf459.4S100B, CD36, MUC1, VIM, DES
41cyclic amp45 2410.4MUC1, S100B, EWSR1, DES, VIM
42testosterone45 61 24 1112.3DES, VIM, S100B, MUC1
43dexamethasone45 51 29 1112.3ESRRB, CD36, S100B, MUC1, VIM
44cysteine459.3CD36, S100B, MUC1, DES, VIM
45progesterone45 29 61 24 1113.2DES, S100B, ESRRB, MUC1, VIM
46paraffin459.1VIM, CD36, S100B, MUC1, DES, EWSR1
47estrogen459.0DES, ESRRB, VIM, MUC1, S100B, CD36
48serine458.9VIM, EWSR1, MUC1, S100B, DES, CD36
49retinoic acid45 249.6DES, EWSR1, ESRRB, VIM, S100B, CD36
50tyrosine458.3TFG, NR4A3, MUC1, ESRRB, EWSR1, DES

GO Terms for genes affiliated with Chondrosarcoma

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16Gene Ontology
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Biological processes related to Chondrosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular receptor signaling pathwayGO:0305229.4NR4A3, ESRRB
2positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.4CD36, S100B, TFG

Molecular functions related to Chondrosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.2DES, TFG, FUS, EWSR1, VIM, S100B
2zinc ion bindingGO:0082708.0FUS, EWSR1, ESRRB, NR4A3, S100B, TAF15

Products for genes affiliated with Chondrosarcoma

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Sources for 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