MCID: CHN012
MIFTS: 56

Chondrosarcoma malady

Genetic diseases, Rare diseases, Bone diseases, Cancer diseases categories

Aliases & Classifications for Chondrosarcoma

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 61UMLS via Orphanet
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Chondrosarcoma, Aliases & Descriptions:

Name: Chondrosarcoma 45 9 10 41 11 43 47 22 60
Chondrosarcoma of Bone 9 60
 
Primary Chondrosarcoma of the Bone 9
Conventional Chondrosarcoma 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
chondrosarcoma:
Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe)


External Ids:

OMIM45 215300
Disease Ontology9 DOID:3371
NCIt38 C2946
MeSH33 D002813
Orphanet47 55880
MESH via Orphanet34 D002813
UMLS via Orphanet61 C0008479

Summaries for Chondrosarcoma

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Disease Ontology:9 A connective tissue cancer that has material basis in cells derived from transformed cells that produce cartilage.

MalaCards based summary: Chondrosarcoma, also known as chondrosarcoma of bone, is related to mesenchymal chondrosarcoma and chordoma, and has symptoms including autosomal recessive inheritanceand chondrosarcoma. 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:63 Chondrosarcoma is a cancer composed of cells derived from transformed cells that produce cartilage.... more...

Description from OMIM:45 215300

Related Diseases for Chondrosarcoma

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Diseases in the Chondrosarcoma family:

Localized Chondrosarcoma

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

(show top 50)    (show all 177)
idRelated DiseaseScoreTop Affiliating Genes
1mesenchymal chondrosarcoma32.0DES, VIM, MUC1
2chordoma31.0S100B, MUC1, VIM, DES
3fibrous dysplasia30.8CD36
4fibroma30.7DES, VIM
5fibrosarcoma30.4CD36, VIM, DES
6giant cell tumor30.4DES, VIM, MUC1, S100B
7angiosarcoma30.2VIM, MUC1
8ependymoma30.2S100B, MUC1, VIM
9mesothelioma30.1DES, VIM, MUC1
10hemangiopericytoma29.9DES, VIM, MUC1, S100B
11bone cancer29.9EXT1, CD36
12rhabdomyosarcoma29.9DES, EWSR1, SMARCB1, VIM, S100B
13rhabdoid tumor29.8DES, SMARCB1, VIM, MUC1
14lipoma29.8FUS, DES
15leiomyosarcoma29.6DES, SMARCB1, VIM, MUC1, S100B
16liposarcoma29.5DES, FUS, EWSR1, VIM
17ewing sarcoma29.2DES, FUS, EWSR1, ESRRB, VIM, S100B
18sarcoma29.2DES, TAF15, EXT1, S100B, NR4A3, MUC1
19myxoid chondrosarcoma11.1
20clear cell chondrosarcoma10.8
21extraskeletal mesenchymal chondrosarcoma10.7
22enchondroma10.7
23periostitis10.6
24periosteal chondrosarcoma10.6
25intracranial chondrosarcoma10.6
26synovial chondromatosis10.5
27adenomatoid tumor10.5VIM
28juxtacortical chondrosarcoma10.5
29osteochondroma10.5
30hidradenoma10.5MUC1
31ewing's family of tumors10.5EWSR1
32cystadenocarcinoma10.5MUC1
33essential tremor10.5VIM
34chondroma10.5
35cervicitis10.4
36infantile myofibromatosis10.4DES
37chondrosarcoma, extraskeletal myxoid10.4
38retroperitoneal leiomyosarcoma10.4SMARCB1
39syringoma10.4S100B, MUC1
40fibrous meningioma10.4MUC1, S100B
41neurilemmoma10.4SMARCB1
42clear cell ependymoma10.4VIM, MUC1
43extraosseous chondrosarcoma10.4
44laryngitis10.4
45congenital mesoblastic nephroma10.4SMARCB1
46choroid plexus papilloma10.4MUC1, S100B
47anaplastic ependymoma10.4MUC1, S100B
48secretory meningioma10.4VIM, MUC1
49glomus tumor10.3DES, VIM
50hereditary multiple exostoses10.3

Graphical network of the top 20 diseases related to Chondrosarcoma:



Diseases related to chondrosarcoma

Symptoms for Chondrosarcoma

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Symptoms by clinical synopsis from OMIM:

215300

Clinical features from OMIM:

215300

HPO human phenotypes related to Chondrosarcoma:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 chondrosarcoma HP:0006765

Drugs & Therapeutics for Chondrosarcoma

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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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Genetic tests related to Chondrosarcoma:

id Genetic test Affiliating Genes
1 Chondrosarcoma22

Anatomical Context for Chondrosarcoma

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MalaCards organs/tissues related to Chondrosarcoma:

31
Bone, Lung, Breast, Kidney, Pancreas, Thyroid, Endothelial, Heart, Liver, Brain, Cerebellum, Spinal cord, Colon, Uterus, Bone marrow, Lymph node, Spleen, Skin, Ovary, Testis, Testes, T cells, Tongue, Trachea, Pineal

Animal Models for Chondrosarcoma or affiliated genes

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MGI Mouse Phenotypes related to Chondrosarcoma:

35
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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Articles related to Chondrosarcoma:

(show top 50)    (show all 1300)
idTitleAuthorsYear
1
Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines. (25895133)
2015
2
Clear cell chondrosarcoma calcaneum - A case report and review of literature. (25619455)
2015
3
Usefulness of PET/CT for diagnosis of periosteal chondrosarcoma of the femur: A case report. (24932240)
2014
4
Analysis of microRNAs expressions in chondrosarcoma. (23940002)
2013
5
Transformation of solitary osteochondroma to dedifferentiated chondrosarcoma arising in the distal radius: a case report. (23007379)
2013
6
MR differentiation of low-grade chondrosarcoma from enchondroma. (23041161)
2013
7
Epithelial and cartilaginous differentiation in clear cell chondrosarcoma. (22944296)
2013
8
Chondrosarcoma of the maxilla: A case report and review of literature. (24250092)
2013
9
Does Ifosfamide Therapy Improve Survival of Patients With Dedifferentiated Chondrosarcoma? (24197392)
2013
10
Benign looking giant cell component in dedifferentiated chondrosarcoma: benign or malignant? A case report. (22736299)
2013
11
Primary spinal extra-osseous intradural mesenchymal chondrosarcoma in a young boy. (24082926)
2013
12
Preoperative radiographic and histopathologic evaluation of central chondrosarcoma. (23820853)
2013
13
Metastatic chondrosarcoma - current aspects of a rare event in dermatopathology. (22050202)
2012
14
Total scapulectomy for the treatment of chondrosarcoma in a cat. (22812474)
2012
15
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
16
NYESO-1/LAGE-1s and PRAME are targets for antigen specific T cells in chondrosarcoma following treatment with 5-Aza-2-deoxycitabine. (22384167)
2012
17
CCN6 enhances ICAM-1 expression and cell motility in human chondrosarcoma cells. (21391218)
2012
18
Intraparenchymal mesenchymal chondrosarcoma in an unusual location. (22406804)
2012
19
Diagnostic pitfall in the diagnosis of mesenchymal chondrosarcoma arising in the central nervous system. (21615516)
2012
20
Inhibition of chondrosarcoma growth by mTOR inhibitor in an in vivo syngeneic rat model. (22761648)
2012
21
Spinal chondrosarcoma: a review. (21437176)
2011
22
I+-Mangostin induces apoptosis in human chondrosarcoma cells through downregulation of ERK/JNK and Akt signaling pathway. (21446759)
2011
23
A case of cerebral embolism with metastatic chondrosarcoma in the left atrium. (20807491)
2011
24
Intrathoracic rupture of an extraskeletal myxoid chondrosarcoma. (21547635)
2011
25
Galectin-1 is a powerful marker to distinguish chondroblastic osteosarcoma and conventional chondrosarcoma. (20399482)
2010
26
Non-skeletal multicentric chondrosarcoma in the hindlimb of a dog. (21029099)
2010
27
Fine-needle aspiration biopsy diagnosis of costal juxtacortical chondrosarcoma presenting as an abdominal mass. (20187114)
2010
28
Chordoma and chondrosarcoma gene profile: implications for immunotherapy. (18641983)
2009
29
Immunohistochemical expression of estrogen receptors in chondrosarcomas and enchondromas. (18203781)
2008
30
Alendronate inhibits cell invasion and MMP-2 secretion in human chondrosarcoma cell line. (17640487)
2007
31
Retroperitoneal extraskeletal myxoid chondrosarcoma]. (17175793)
2006
32
Extraskeletal myxoid chondrosarcoma arising from the clavicle. (16786132)
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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UniProtKB/Swiss-Prot genetic disease variations for Chondrosarcoma:

62
id Symbol AA change Variation ID SNP ID
1EXT1p.Asn316SerVAR_012820

Clinvar genetic disease variations for Chondrosarcoma:

6
id Gene Variation 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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Search GEO for disease gene expression data for Chondrosarcoma.

Pathways for genes affiliated with Chondrosarcoma

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Pathways related to Chondrosarcoma according to GeneCards Suite gene sharing:

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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Compounds related to Chondrosarcoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1tartrate4310.2VIM, CD36
2toluidine4310.2DES, VIM
3silicone4310.1VIM, CD36
4eosin4310.1VIM, MUC1, S100B
5hydroxyapatite4310.0CD36, S100B, VIM
6keratan sulfate4310.0CD36, DES
7acetone4310.0CD36, MUC1
8orcein4310.0DES, VIM, S100B
9cytarabine43 49 1212.0VIM, MUC1, CD36
10hydrocortisone43 2 59 1213.0CD36, MUC1, VIM
11progestin4310.0DES, VIM, MUC1
12dermatan sulfate4310.0CD36, VIM, DES
13procollagen439.9CD36, VIM, DES
14biotin43 24 1211.9MUC1, VIM, DES
15titanium439.9VIM, CD36
16phalloidin439.9DES, VIM
17heparan sulfate43 2410.9EXT1, VIM, DES
184-hydroxytamoxifen439.9ESRRB, VIM, S100B
19dihydrotestosterone43 28 24 1212.9DES, VIM, MUC1
20bromodeoxyuridine439.9S100B, VIM, DES
21dmso439.8CD36, MUC1, VIM
22s 100439.7S100B, MUC1, VIM, DES
23reticulin439.7DES, VIM, MUC1, S100B
24mucicarmine439.7DES, VIM, MUC1, S100B
25b 723439.7S100B, MUC1, VIM, DES
26hematoxylin439.7DES, VIM, MUC1, S100B
27formaldehyde43 2410.7S100B, MUC1, VIM, DES
28adriamycin439.7CD36, MUC1, VIM, DES
29hyaluronic acid43 2410.7DES, VIM, MUC1, CD36
30glycogen43 2410.7DES, VIM, MUC1, S100B
31acth439.6ESRRB, MUC1, S100B
32glutamine439.6EWSR1, VIM, S100B, CD36
33nor 1439.5EWSR1, ESRRB, NR4A3
34estradiol43 24 1211.5DES, ESRRB, VIM, MUC1
35heparin43 28 24 1212.5DES, VIM, S100B, EXT1, CD36
36creatinine439.4DES, VIM, MUC1, S100B, CD36
37chloramphenicol43 2 49 1212.4VIM, MUC1, S100B
38gnrh439.4CD36, VIM, ESRRB
39arginine439.4DES, EWSR1, VIM, S100B, EXT1
40vegf439.4CD36, S100B, MUC1, VIM, DES
41cyclic amp43 2410.4DES, EWSR1, VIM, MUC1, S100B
42testosterone43 59 24 1212.3S100B, MUC1, VIM, DES
43dexamethasone43 49 28 1212.3ESRRB, VIM, MUC1, S100B, CD36
44cysteine439.3DES, VIM, MUC1, S100B, CD36
45progesterone43 28 59 24 1213.2DES, ESRRB, VIM, MUC1, S100B
46paraffin439.1CD36, S100B, MUC1, VIM, EWSR1, DES
47estrogen439.0DES, ESRRB, VIM, MUC1, S100B, CD36
48serine438.9DES, EWSR1, VIM, MUC1, S100B, CD36
49retinoic acid43 249.6DES, EWSR1, ESRRB, VIM, MUC1, S100B
50tyrosine438.3DES, TFG, EWSR1, ESRRB, MUC1, NR4A3

GO Terms for genes affiliated with Chondrosarcoma

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Biological processes related to Chondrosarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular receptor signaling pathwayGO:00305229.4NR4A3, ESRRB
2positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.4CD36, S100B, TFG

Molecular functions related to Chondrosarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.2S100B, VIM, EWSR1, FUS, TFG, DES
2zinc ion bindingGO:00082708.0EWSR1, ESRRB, NR4A3, S100B, TAF15, FUS

Products for genes affiliated with Chondrosarcoma

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Sources for Chondrosarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet