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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Disease Ontology:8 A connective tissue cancer that has material basis in cells derived from transformed cells that produce cartilage.

MalaCards based summary: Chondrosarcoma, also known as primary chondrosarcoma of the bone, is related to mesenchymal chondrosarcoma and chordoma, and has symptoms including 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:46 215300

Aliases & Classifications for Chondrosarcoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 63UMLS via Orphanet
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Chondrosarcoma, Aliases & Descriptions:

Name: Chondrosarcoma 8 9 42 22 46 10 44 48 62
Primary Chondrosarcoma of the Bone 8 62
 
Chondrosarcoma of Bone 8 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
chondrosarcoma:
Prevalence: 1-9/100000


External Ids:

Disease Ontology8 DOID:3371
NCIt39 C2946
OMIM46 215300
MeSH34 D002813
MESH via Orphanet35 D002813
UMLS via Orphanet63 C0008479

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/GeneDecks gene sharing:

(show top 50)    (show all 180)
idRelated DiseaseScoreTop Affiliating Genes
1mesenchymal chondrosarcoma32.0DES, VIM, MUC1
2chordoma31.0S100B, MUC1, VIM, DES
3fibroma30.7DES, VIM
4synovial sarcoma30.5EWSR1
5fibrosarcoma30.4CD36, VIM, DES
6giant cell tumor30.4DES, VIM, MUC1, S100B
7alveolar soft part sarcoma30.3DES, VIM
8angiosarcoma30.2VIM, MUC1
9ependymoma30.2S100B, MUC1, VIM
10meningioma30.1SMARCB1, VIM, MUC1, S100B
11hemangiopericytoma29.9DES, VIM, MUC1, S100B
12bone cancer29.9EXT1, CD36
13rhabdomyosarcoma29.9DES, EWSR1, SMARCB1, VIM, S100B
14rhabdoid tumor29.8DES, SMARCB1, VIM, MUC1
15clear cell sarcoma29.8FUS, EWSR1, S100B
16lipoma29.8FUS, DES
17leiomyosarcoma29.6DES, SMARCB1, VIM, MUC1, S100B
18liposarcoma29.5DES, FUS, EWSR1, VIM
19sarcoma29.2DES, TAF15, EXT1, S100B, NR4A3, MUC1
20myxoid chondrosarcoma11.0
21extraskeletal myxoid chondrosarcoma11.0
22clear cell chondrosarcoma10.8
23extraskeletal mesenchymal chondrosarcoma10.7
24enchondroma10.7
25osteosarcoma10.6
26periostitis10.6
27intracranial chondrosarcoma10.6
28periosteal chondrosarcoma10.6
29adenomatoid tumor10.5VIM
30synovial chondromatosis10.5
31osteofibrous dysplasia10.5CD36
32juxtacortical chondrosarcoma10.5
33hidradenoma10.5MUC1
34cerebral primitive neuroectodermal tumor10.5EWSR1
35osteochondroma10.5
36cystadenocarcinoma10.5MUC1
37essential tremor10.5VIM
38chondroma10.5
39infantile myofibromatosis10.4DES
40cervicitis10.4
41retroperitoneal leiomyosarcoma10.4SMARCB1
42syringoma10.4S100B, MUC1
43laryngitis10.4
44fibrous meningioma10.4MUC1, S100B
45neurilemmoma10.4SMARCB1
46clear cell ependymoma10.4VIM, MUC1
47congenital mesoblastic nephroma10.4SMARCB1
48choroid plexus papilloma10.4MUC1, S100B
49anaplastic ependymoma10.4MUC1, S100B
50secretory meningioma10.4VIM, MUC1

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:

32
Bone, Lung, Breast, Kidney, Pancreas, Endothelial, Heart, Thyroid, Liver, Brain, Cerebellum, Spinal cord, Bone marrow, Lymph node, Spleen, Colon, Skin, Ovary, Uterus, Testis, Testes, T cells, Tongue, Trachea, Pineal

Animal Models for Chondrosarcoma or affiliated genes

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MGI Mouse Phenotypes related to Chondrosarcoma:

36
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 1271)
idTitleAuthorsYear
1
Usefulness of PET/CT for diagnosis of periosteal chondrosarcoma of the femur: A case report. (24932240)
2014
2
Analysis of microRNAs expressions in chondrosarcoma. (23940002)
2013
3
Transformation of solitary osteochondroma to dedifferentiated chondrosarcoma arising in the distal radius: a case report. (23007379)
2013
4
MR differentiation of low-grade chondrosarcoma from enchondroma. (23041161)
2013
5
Epithelial and cartilaginous differentiation in clear cell chondrosarcoma. (22944296)
2013
6
Chondrosarcoma of the maxilla: A case report and review of literature. (24250092)
2013
7
Does Ifosfamide Therapy Improve Survival of Patients With Dedifferentiated Chondrosarcoma? (24197392)
2013
8
Benign looking giant cell component in dedifferentiated chondrosarcoma: benign or malignant? A case report. (22736299)
2013
9
Primary spinal extra-osseous intradural mesenchymal chondrosarcoma in a young boy. (24082926)
2013
10
Preoperative radiographic and histopathologic evaluation of central chondrosarcoma. (23820853)
2013
11
99mTc-NTP 15-5 assessment of the early therapeutic response of chondrosarcoma to zoledronic acid in the Swarm rat orthotopic model. (23688107)
2013
12
Metastatic chondrosarcoma - current aspects of a rare event in dermatopathology. (22050202)
2012
13
Total scapulectomy for the treatment of chondrosarcoma in a cat. (22812474)
2012
14
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
15
NYESO-1/LAGE-1s and PRAME are targets for antigen specific T cells in chondrosarcoma following treatment with 5-Aza-2-deoxycitabine. (22384167)
2012
16
CCN6 enhances ICAM-1 expression and cell motility in human chondrosarcoma cells. (21391218)
2012
17
Intraparenchymal mesenchymal chondrosarcoma in an unusual location. (22406804)
2012
18
Diagnostic pitfall in the diagnosis of mesenchymal chondrosarcoma arising in the central nervous system. (21615516)
2012
19
Inhibition of chondrosarcoma growth by mTOR inhibitor in an in vivo syngeneic rat model. (22761648)
2012
20
Spinal chondrosarcoma: a review. (21437176)
2011
21
I+-Mangostin induces apoptosis in human chondrosarcoma cells through downregulation of ERK/JNK and Akt signaling pathway. (21446759)
2011
22
A case of cerebral embolism with metastatic chondrosarcoma in the left atrium. (20807491)
2011
23
Intrathoracic rupture of an extraskeletal myxoid chondrosarcoma. (21547635)
2011
24
Free fibular graft reconstruction following resection of chondrosarcoma in the first metacarpal. (22072475)
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:

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

Clinvar genetic disease variations for Chondrosarcoma:

6
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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Expression patterns in normal tissues for genes affiliated with Chondrosarcoma

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Pathways for genes affiliated with Chondrosarcoma

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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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Compounds related to Chondrosarcoma according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1tartrate4410.2VIM, CD36
2toluidine4410.2DES, VIM
3silicone4410.1VIM, CD36
4eosin4410.1VIM, MUC1, S100B
5hydroxyapatite4410.0CD36, S100B, VIM
6keratan sulfate4410.0CD36, DES
7acetone4410.0CD36, MUC1
8orcein4410.0DES, VIM, S100B
9cytarabine44 50 1112.0VIM, MUC1, CD36
10hydrocortisone44 2 61 1113.0CD36, MUC1, VIM
11progestin4410.0DES, VIM, MUC1
12dermatan sulfate4410.0CD36, VIM, DES
13procollagen449.9CD36, VIM, DES
14biotin44 24 1111.9MUC1, VIM, DES
15titanium449.9VIM, CD36
16phalloidin449.9DES, VIM
17heparan sulfate44 2410.9EXT1, VIM, DES
184-hydroxytamoxifen449.9ESRRB, VIM, S100B
19dihydrotestosterone44 28 24 1112.9DES, VIM, MUC1
20bromodeoxyuridine449.9S100B, VIM, DES
21dmso449.8CD36, MUC1, VIM
22s 100449.7S100B, MUC1, VIM, DES
23reticulin449.7DES, VIM, MUC1, S100B
24mucicarmine449.7DES, VIM, MUC1, S100B
25b 723449.7S100B, MUC1, VIM, DES
26hematoxylin449.7DES, VIM, MUC1, S100B
27formaldehyde44 2410.7S100B, MUC1, VIM, DES
28adriamycin449.7CD36, MUC1, VIM, DES
29hyaluronic acid44 2410.7DES, VIM, MUC1, CD36
30glycogen44 2410.7DES, VIM, MUC1, S100B
31acth449.6ESRRB, MUC1, S100B
32glutamine449.6EWSR1, VIM, S100B, CD36
33nor 1449.5EWSR1, ESRRB, NR4A3
34estradiol44 24 1111.5DES, ESRRB, VIM, MUC1
35heparin44 28 24 1112.5DES, VIM, S100B, EXT1, CD36
36creatinine449.4DES, VIM, MUC1, S100B, CD36
37chloramphenicol44 2 50 1112.4VIM, MUC1, S100B
38gnrh449.4CD36, VIM, ESRRB
39arginine449.4DES, EWSR1, VIM, S100B, EXT1
40vegf449.4CD36, S100B, MUC1, VIM, DES
41cyclic amp44 2410.4DES, EWSR1, VIM, MUC1, S100B
42testosterone44 61 24 1112.3S100B, MUC1, VIM, DES
43dexamethasone44 50 28 1112.3ESRRB, VIM, MUC1, S100B, CD36
44cysteine449.3DES, VIM, MUC1, S100B, CD36
45progesterone44 28 61 24 1113.2DES, ESRRB, VIM, MUC1, S100B
46paraffin449.1CD36, S100B, MUC1, VIM, EWSR1, DES
47estrogen449.0DES, ESRRB, VIM, MUC1, S100B, CD36
48serine448.9DES, EWSR1, VIM, MUC1, S100B, CD36
49retinoic acid44 249.6DES, EWSR1, ESRRB, VIM, MUC1, S100B
50tyrosine448.3DES, TFG, EWSR1, ESRRB, MUC1, NR4A3

GO Terms for genes affiliated with Chondrosarcoma

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Biological processes related to Chondrosarcoma according to GeneCards/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:0428028.2S100B, VIM, EWSR1, FUS, TFG, DES
2zinc ion bindingGO:0082708.0EWSR1, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet