MCID: CHR072
MIFTS: 55

Chordoma malady

Bone, Endocrine, Cancer categories

Summaries for Chordoma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine.  the notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull.  a chordoma occurs when these notochord cells start to grow into a tumor and spread into surrounding bone.  approximately one third of chordomas occur at the base of the skull in a bone called the clivus and the most common symptoms are double vision (diplopia) and headaches.  the average age of diagnosis for chordomas of the skull base is 38 years.   treatment often begins with surgery to remove as much of the tumor as possible, and radiation therapy may follow surgery to destroy any remaining tumor cells.  chordomas often grow back in the original location after treatment (known as a recurrence); they do not often spread to distant parts of the body (metastasize).  though the cause of chordomas is unknown, there is currently a study aimed at identifying a potential genetic predisposition to this disease; more information on this study can be found on the national cancer institute's web site. last updated: 10/24/2011

MalaCards: Chordoma, also known as chordoma, susceptibility to, is related to tuberous sclerosis and adenoma. An important gene associated with Chordoma is CHDM (Chordoma), and among its related pathways are Advanced glycosylation endproduct receptor signaling and Type I hemidesmosome assembly. The compounds estrogen and s 100 have been mentioned in the context of this disorder. Related mouse phenotypes are integument and digestive/alimentary.

Disease Ontology:8 A notochordal cancer that derives from cellular remnants of the notochord.

Genetics Home Reference:21 A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.

Wikipedia:64 Chordoma is a rare slow-growing neoplasm thought to arise from cellular remnants of the notochord. The... more...

Description from OMIM:47 215400

Aliases & Classifications for Chordoma

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Bone, Endocrine


Characteristics (Orphanet epidemiological data):

49
chordoma:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

chordoma 8 43 21 47 10 45 49 61
chordoma, susceptibility to 9 20 22
notochordoma 8


External Ids:

Disease Ontology8 DOID:3302
OMIM47 215400
MeSH35 D002817
NCIt40 C2947
SNOMED-CT57 50007008
MESH via Orphanet36 D002817
SNOMED-CT via Orphanet58 50007008
UMLS via Orphanet62 C0008487

Related Diseases for Chordoma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 199)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis30.5GFAP, PDGFRB, S100B, VIM
2adenoma30.3CEACAM3, LGALS3, KRT14, KRT18, KRT19, INHA
3adenocarcinoma30.2CEACAM3, LGALS3, KRT14, KRT18, KRT1, KRT5
4myoepithelioma30.1KRT14, GFAP, S100A1, S100B, VIM
5spindle cell sarcoma30.1MUC1, DES, S100B, VIM
6ependymoma30.1GFAP, MUC1, S100B, VIM
7pleomorphic adenoma30.1KRT14, KRT18, GFAP, MUC1, DES, S100A1
8fibrous histiocytoma30.1DES, S100B, VIM
9myxopapillary ependymoma30.1GFAP, S100B
10teratoma30.1GFAP
11paraganglioma29.8GFAP, S100A1, S100B
12renal clear cell carcinoma29.8INHA, MUC1, MET, S100A1, VIM
13astrocytoma29.8LGALS3, GFAP, INHA, MET, PDGFRB, S100B
14spinal chordoma10.6
15clivus chondroid chordoma10.3
16tuberous sclerosis complex10.2
17chordoid meningioma10.1
18extraskeletal myxoid chondrosarcoma10.1
19craniopharyngioma10.0KRT14
20hemangiopericytoma10.0MUC1, DES, S100A1, S100B, VIM
21glomus tumor10.0DES, S100A1, VIM
22thymic carcinoma10.0CEACAM3, KRT18, MUC1
23adenomatoid tumor10.0VIM
24rhabdoid tumor10.0MUC1, DES, VIM
25papilloma10.0KRT14, KRT5
26hemangioblastoma10.0GFAP, INHA, MUC1, S100B
27sertoli-leydig cell tumor10.0INHA, MUC1
28clear cell ependymoma10.0MUC1, VIM
29giant cell tumor10.0CEACAM3, MUC1, DES, S100B, VIM
30perineurioma10.0MUC1, S100B, VIM
31pulmonary fibrosis10.0PDGFRB
32cystadenoma10.0CEACAM3, INHA
33granular cell tumor10.0INHA, DES, S100A1, S100B, VIM
34angiomyolipoma10.0DES, S100A1, VIM
35angiosarcoma10.0KRT14, KRT18, MUC1, VIM
36fibrous meningioma10.0MUC1, S100B
37von hippel-lindau disease10.0INHA, MET
38malignant fibroxanthoma10.0MUC1, DES, PDGFRB, S100A1, S100B, VIM
39dermatofibrosarcoma protuberans10.0MUC1, DES, PDGFRB, S100A1, S100B, VIM
40smooth muscle tumor10.0LGALS3, DES, S100A1, S100B, VIM
41leiomyoma10.0DES, S100A1, S100B, VIM
42leydig cell tumor10.0INHA, PDGFRB
43syringoma10.0CEACAM3, KRT14, KRT1, KRT19, GFAP, MUC1
44abrikosov's tumor10.0INHA, MUC1, DES, S100A1, VIM
45fibrosarcoma10.0DES, PDGFRB, JUP, VIM
46mesenchymal chondrosarcoma10.0MUC1, DES, VIM
47renal oncocytoma10.0S100A1
48bowen syndrome10.0CEACAM3, KRT14, KRT1, KRT19, JUP
49synovial sarcoma10.0KRT14, KRT1, KRT19, MUC1, DES, MET
50epidermolysis bullosa simplex10.0KRT14, KRT1, KRT5, DES

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to chordoma

Clinical Features for Chordoma

Sources:
47OMIM
See all sources

Clinical features from OMIM:

215400

Drugs & Therapeutics for Chordoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Chordoma

Drug clinical trials:

Search ClinicalTrials for Chordoma

Search NIH Clinical Center for Chordoma

Search CenterWatch for Chordoma

Genetic Tests for Chordoma

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Chordoma:

id Genetic test Affiliating Genes
1 Chordoma20 22

Anatomical Context for Chordoma

Animal Models for Chordoma or affiliated genes

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

Publications for Chordoma

Sources:
51PubMed
See all sources

Articles related to Chordoma:

(show top 50)    (show all 615)
idTitleAuthorsYear
1
Delayed Recurrence of Intracranial Chordoma. (24413277)
2014
2
Comparison of human chordoma cell-kill for 290 MeV/n carbon ions versus 70 MeV protons in vitro. (23587329)
2013
3
Long-term outcome following surgical treatment of sacral chordoma. (24249252)
2013
4
Paravertebral high cervical chordoma. A case report. (23859247)
2013
5
Clinical and Pathological Features of Intradural Retroclival Chordoma. (23416632)
2013
6
Total spondylectomy following carbon ion radiotherapy to treat chordoma of the mobile spine. (24078538)
2013
7
Positron emission tomography/computed tomography imaging of residual skull base chordoma before radiotherapy using fluoromisonidazole and fluorodeoxyglucose: potential consequences for dose painting. (22391104)
2012
8
Incidentally discovered distant cutaneous metastasis of sacral chordoma: a case with variation in S100 protein expression (compared to the primary tumor) and review of the literature. (22524546)
2012
9
Novel therapeutic targets in chordoma. (22860993)
2012
10
Expression of ezrin, MMP-9, and COX-2 in 50 chordoma specimens: a clinical and immunohistochemical analysis. (22228328)
2012
11
Computer-assisted modified mid-sacrectomy for en bloc resection of chordoma and preservation of bladder function. (22323941)
2011
12
Spot-scanning-based proton therapy for extracranial chordoma. (21497457)
2011
13
Surgery significantly improves survival in patients with chordoma. (20042964)
2010
14
Cytologic diagnosis of chordoma in a peritoneal effusion: a case report. (20518424)
2010
15
Thoracic chordoma: review and role of FDG-PET. (18946438)
2008
16
Identifying mechanisms for therapeutic intervention in chordoma: c-Met oncoprotein. (19050584)
2008
17
Chordoma of the anterior cranial fossa and ethmoids with orbital involvement. (19085301)
2008
18
Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation. (18071362)
2008
19
Overexpressions of nerve growth factor and its tropomyosin-related kinase A receptor on chordoma cells. (17700442)
2007
20
Total en bloc spondylectomy of C5 vertebra for chordoma. (17450062)
2007
21
Chordoma of a thoracic vertebra. A case report. (18260501)
2007
22
Steroid hormone receptor and COX-2 expression in chordoma. (17709310)
2007
23
Metastatic chordoma of the breast: an extremely rare lesion mimicking mucinous cancer. (17004976)
2006
24
En bloc marginal excision of a multilevel cervical chordoma. Case report. (16703909)
2006
25
Fine-needle aspiration of a chordoma and its recurrence 19 years after. (16900473)
2006
26
Infantile clivus chordoma without clivus involvement: case report and review of the literature. (16565853)
2006
27
Hypofractionated stereotactic radiation therapy for skull base and upper cervical chordoma and chondrosarcoma: preliminary results. (16601376)
2005
28
Alterations of G1-S checkpoint in chordoma: the prognostic impact of p53 overexpression. (16078265)
2005
29
Skull base chordoma: CT and MRI features. (16440571)
2005
30
Intralesional fibrous septum in chordoma: a clinicopathologic and immunohistochemical study of 122 lesions. (16040302)
2005
31
Phase II study of 9-nitro-camptothecin in patients with advanced chordoma or soft tissue sarcoma. (15908670)
2005
32
Carbon-11-methionine positron emission tomography imaging of chordoma. (15483754)
2004
33
Upper cervical spine chordoma: a case study. (14593939)
2003
34
Value of MRI in the diagnosis of non-clival, non-sacral chordoma. (12719927)
2003
35
Spinal chordoma of the terminal filum. Case report. (12450288)
2002
36
Chordoma of the low cervical spine presenting with Horner's syndrome. (12522601)
2002
37
FNAB cytology of chordoma masquerading as adenocarcinoma: case report. (11992373)
2002
38
Metastatic dedifferentiated chordoma with elevated beta-hCG: a case report. (12040287)
2002
39
Hemorrhagic chondroid chordoma mimicking pituitary apoplexy. (9860121)
1998
40
Detection and distribution of the carbohydrate binding protein galectin-3 in human notochord, intervertebral disc and chordoma. (9447709)
1997
41
Significance of immunohistochemical study in the diagnosis and differential diagnosis of chordoma]. (8697996)
1995
42
Chondroid chordoma of the lateral skull base. (8751297)
1995
43
Chondroid chordoma versus low-grade chondrosarcoma of the base of the skull: can immunohistochemistry resolve the controversy? (7525890)
1994
44
A case of sellar chordoma mimicking a non-functioning pituitary adenoma with survival of more than 10 years. (8220788)
1993
45
Chondroid chordoma presenting with hypopituitarism. (1300173)
1992
46
Classical and chondroid chordoma. A light-microscopic, histochemical, ultrastructural and immunohistochemical analysis of the various cell types. (1754509)
1991
47
Immunohistochemistry of ecchordosis physaliphora and chordoma. (1703453)
1990
48
Surgical access for clivus chordoma. The University of California, San Francisco, experience. (2917064)
1989
49
Chondroid chordoma. (3686707)
1987
50
Clivus chordoma in a 9-year-old child: case report and review of the literature. (3152925)
1987

Genetic Variations for Chordoma

Expression for genes affiliated with Chordoma

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

Search GEO for disease gene expression data for Chordoma.

Pathways for genes affiliated with Chordoma

Sources:
54Reactome, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN
See all sources

Pathways related to Chordoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5S100B, LGALS3
210.5KRT14, KRT5
310.4VIM, DES, KRT19, KRT5, KRT18
410.4VIM, KRT19, KRT5, KRT1, KRT18, KRT14
5
Hide members
10.4GFAP, MUC1, DES, MET, PDGFRB, KRT18

Compounds for genes affiliated with Chordoma

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Chordoma according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1estrogen4510.9GFAP
2s 1004510.9GFAP, VIM, MUC1, DES, S100B
3glycogen45 2411.9MET, KRT18, GFAP
4reticulin4510.8GFAP, S100B, MUC1, DES, VIM
5mucicarmine4510.8VIM, S100B, S100A1, DES, MUC1, KRT14
6eosin4510.8GFAP, S100B, VIM, MUC1
7b 7234510.8VIM, CEACAM3, KRT19, MUC1, DES, S100A1
8formaldehyde45 2411.8MUC1, LGALS3, KRT18, KRT19, GFAP, DES
9serine4510.8KRT14, KRT1, KRT19, GFAP, DES, S100B
10bromodeoxyuridine4510.8VIM, S100B, PDGFRB, DES, GFAP, KRT19
11biotin45 11 2412.8DES, MUC1, INHA, KRT1, S100A1, VIM
12adriamycin4510.8DES, MUC1, CEACAM3, VIM
13proline4510.8S100B, PDGFRB, LGALS3, KRT14, KRT1, MET
14agar4510.8JUP, VIM, PDGFRB, MUC1, MET, GFAP
15butyrate4510.8GFAP
16oxygen45 2411.8GFAP, S100B, MET, DES, MUC1, LGALS3
17threonine4510.8MUC1, GFAP, LGALS3, KRT14, KRT18, KRT1
18matrigel4510.8GFAP, KRT18, LGALS3, MET, PDGFRB, VIM
19testosterone45 60 11 2413.8S100B, PDGFRB, MET, DES, INHA, KRT18
20hematoxylin4510.8KRT14, LGALS3, CEACAM3, KRT1, INHA, GFAP
21vegf4510.8CEACAM3, PDGFRB, S100B, JUP, DES, VIM
22retinoic acid45 2411.7VIM, JUP, S100B, LGALS3, KRT18, KRT1
23alanine4510.7MET, INHA, GFAP, KRT5, KRT14, KRT18
24iron45 2411.7VIM, S100B, S100A1, DES, KRT19, KRT18
25lipid4510.7KRT18, LGALS3, KRT14, KRT1, GFAP, MUC1
26lactate4510.7LGALS3, KRT18, KRT19, GFAP, DES, VIM
27progesterone45 60 29 11 2414.7KRT1, KRT5, KRT19, GFAP, INHA, MUC1
28cysteine4510.7DES, VIM, S100A1, GFAP, MET, KRT14
29paraffin4510.7KRT18, INHA, GFAP, KRT19, KRT5, KRT1
30creatinine4510.7GFAP, CEACAM3, KRT18, KRT19
31cisplatin45 50 60 1113.7LGALS3, KRT14, KRT19, GFAP, MUC1, MET
32tyrosine4510.7INHA, S100A1, KRT19, CEACAM3, MUC1, DES
33thymidine45 2411.7CEACAM3, KRT19, GFAP, MUC1, KRT18, DES
34glucose4510.7KRT14, MUC1, MET, PDGFRB, GFAP, KRT19
35calcium45 50 11 2413.7MET, LGALS3, PDGFRB, DES, S100B, MUC1
36acth4510.7S100B, MUC1, INHA, GFAP, LGALS3, CEACAM3
37arginine4510.7KRT5, GFAP, DES, MET, VIM, KRT1
38aspartate4510.7CEACAM3, KRT19, KRT18, VIM, S100B, KRT1
39orcein4510.7VIM, DES, S100B
40retinoid4510.6KRT1, KRT18, VIM, KRT19, KRT5, KRT14
41steroid4510.6INHA, KRT1, KRT18, CEACAM3, DES, KRT19
42p0024510.6KRT18, MET, JUP, DES, KRT19
4312-o-tetradecanoylphorbol 13-acetate4510.6MUC1, VIM, KRT1, MET, KRT5, DES
44methionine4510.5VIM, S100B, KRT14, GFAP, PDGFRB, DES
45nitric oxide45 11 2412.5LGALS3, S100B, S100A1, MET, DES, CEACAM3
46paclitaxel45 50 1112.5S100B, GFAP, KRT19, JUP, PDGFRB
47forskolin45 50 1112.4KRT18, GFAP, S100B, INHA, VIM, MUC1
48atp45 2911.4PDGFRB, VIM, KRT18, KRT19, GFAP, MET
49estradiol45 11 2412.3VIM, INHA, GFAP, DES, MUC1, KRT19
502-methoxyethanol4510.1VIM, KRT14, S100A1

GO Terms for genes affiliated with Chordoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00591610.5DES, JUP
2intermediate filamentGO:00588210.4KRT19, KRT18, KRT5, GFAP, DES, JUP
3keratin filamentGO:04509510.4KRT14, KRT5, KRT18, KRT1
4cytoplasmGO:00573710.3VIM, KRT14, KRT18, KRT5, LGALS3, GFAP
5Z discGO:03001810.1JUP, DES, KRT19

Biological processes related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:06002010.5VIM, GFAP
2hemidesmosome assemblyGO:03158110.5KRT5, KRT14
3cell junction assemblyGO:03432910.4JUP, KRT5, KRT14
4astrocyte developmentGO:01400210.4VIM, GFAP
5intermediate filament organizationGO:04510910.2GFAP, VIM

Molecular functions related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:04454810.5S100A1, S100B
2structural constituent of cytoskeletonGO:00520010.4KRT14, KRT5, KRT19, GFAP, DES, VIM
3protein bindingGO:00551510.2MET, PDGFRB, S100A1, S100B, JUP, VIM
4scaffold protein bindingGO:09711010.1KRT18, KRT5, VIM

Products for genes affiliated with Chordoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chordoma

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