MCID: CHR072
MIFTS: 67

Chordoma malady

Endocrine diseases, Cancer diseases categories

Summaries for Chordoma

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 chondrosarcoma and tuberous sclerosis. 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. Affiliated tissues include bone, lung and thyroid, and 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:63 Chordoma is a rare slow-growing neoplasm thought to arise from cellular remnants of the notochord. The... more...

Description from OMIM:46 215400

Aliases & Classifications for Chordoma

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 9diseasecard, 20GeneTests, 22GTR, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
chordoma:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

chordoma 8 42 21 46 10 44 48 60
chordoma, susceptibility to 9 20 22
notochordal sarcoma 48
notochordoma 8


External Ids:

Disease Ontology8 DOID:3302
OMIM46 215400
MeSH34 D002817
NCIt39 C2947
SNOMED-CT56 50007008
MESH via Orphanet35 D002817
SNOMED-CT via Orphanet57 50007008
UMLS via Orphanet61 C0008487

Related Diseases for Chordoma

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17GeneCards, 18GeneDecks
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Diseases related to Chordoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 217)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma30.8CEACAM3, KRT19, MUC1, DES, MET, PDGFRB
2tuberous sclerosis30.4GFAP, PDGFRB, S100B, VIM
3adenoma30.2CEACAM3, LGALS3, KRT14, KRT18, KRT19, INHA
4meningioma30.1KRT1, GFAP, INHA, MUC1, PDGFRB, S100A1
5adenocarcinoma30.1CEACAM3, LGALS3, KRT14, KRT18, KRT1, KRT5
6craniopharyngioma30.0KRT14
7myoepithelioma30.0KRT14, GFAP, S100A1, S100B, VIM
8pituitary adenoma30.0LGALS3, INHA, JUP
9pleomorphic adenoma30.0KRT14, KRT18, GFAP, MUC1, DES, S100A1
10sarcoma30.0MUC1, DES, MET, PDGFRB, S100A1, S100B
11fibrous histiocytoma30.0DES, S100B, VIM
12myxopapillary ependymoma30.0GFAP, S100B
13paraganglioma29.8GFAP, S100A1, S100B
14giant cell tumor29.8CEACAM3, MUC1, DES, S100B, VIM
15neurofibroma29.8MUC1, MET, PDGFRB, S100A1, S100B, VIM
16renal clear cell carcinoma29.8INHA, MUC1, MET, S100A1, VIM
17osteosarcoma29.8MET, PDGFRB
18astrocytoma29.8LGALS3, GFAP, INHA, MET, PDGFRB, S100B
19breast cancer29.8CEACAM3, LGALS3, KRT14, KRT18, KRT5, KRT19
20chondroid chordoma10.8
21cervicitis10.7
22clivus chordoma10.6
23spinal chordoma10.5
24clivus chondroid chordoma10.3
25mediastinitis10.3
26parachordoma10.3
27myxoid chondrosarcoma10.1
28thyroiditis10.1
29chordoid meningioma10.0
30extraskeletal myxoid chondrosarcoma10.0
31nasopharyngitis10.0
32chondroma10.0
33histiocytoma10.0
34meningitis10.0
35renal cell carcinoma10.0
36hemangiopericytoma10.0MUC1, DES, S100A1, S100B, VIM
37glomus tumor10.0DES, S100A1, VIM
38thymus cancer10.0CEACAM3, KRT18, MUC1
39adenomatoid tumor10.0VIM
40rhabdoid tumor10.0MUC1, DES, VIM
41papilloma10.0KRT14, KRT5
42hemangioblastoma10.0GFAP, INHA, MUC1, S100B
43sertoli-leydig cell tumor10.0INHA, MUC1
44clear cell ependymoma10.0MUC1, VIM
45spindle cell sarcoma10.0MUC1, DES, S100B, VIM
46perineurioma10.0MUC1, S100B, VIM
47pulmonary fibrosis10.0PDGFRB
48cystadenoma10.0CEACAM3, INHA
49granular cell tumor10.0INHA, DES, S100A1, S100B, VIM
50angiomyolipoma10.0DES, S100A1, VIM

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to chordoma

Clinical Features for Chordoma

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46OMIM
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Clinical features from OMIM:

215400

Drugs & Therapeutics for Chordoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Chordoma:

id Genetic test Affiliating Genes
1 Chordoma20 22

Anatomical Context for Chordoma

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32MalaCards
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MalaCards organs/tissues related to Chordoma:

32
Bone, Lung, Thyroid, Pituitary, Lymph node, Endothelial, Spinal cord, Pineal, Testes, Ovary, Breast, Brain, Liver, Skeletal muscle, Heart, Eye

Animal Models for Chordoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Chordoma:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.6KRT14, JUP, S100B, MFGE8, T, KRT19
2MP:000538110.6PDGFRB, MET, T, MUC1, INHA, GFAP
3MP:000537610.6JUP, PDGFRB, DES, T, GFAP, KRT1
4MP:000538510.5VIM, JUP, S100A1, PDGFRB, MFGE8, MET
5MP:001076810.5T, DES, MET, PDGFRB, JUP, VIM
6MP:000538910.5MFGE8, T, INHA, KRT19, KRT14
7MP:000287310.5S100B, S100A1, PDGFRB, MET, T, MUC1
8MP:000536910.4GFAP, MET, PDGFRB, JUP
9MP:000538010.4JUP, PDGFRB, MET, T, KRT19, KRT18
10MP:000200610.3MFGE8, MET, MUC1, INHA, KRT19, KRT14
11MP:000538710.1VIM, JUP, PDGFRB, MFGE8, MET, INHA

Publications for Chordoma

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50PubMed
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Articles related to Chordoma:

(show top 50)    (show all 614)
idTitleAuthorsYear
1
Spot-scanning proton radiation therapy for pediatric chordoma and chondrosarcoma: clinical outcome of 26 patients treated at paul scherrer institute. (23582853)
2013
2
Reconstruction of a Large External Hemipelvectomy Defect After Chordoma Resection Using a 5-Component Chimeric Rotational Flap. (23817459)
2013
3
A zebrafish model of chordoma initiated by notochord-driven expression of HRASV12. (24311731)
2013
4
Maxillary surgical seeding of a clival chordoma. (21899379)
2012
5
Association of telomerase expression with recurrence of sacral chordoma. (22918084)
2012
6
Margin-free, en bloc resection of a multilevel cervical chordoma with C-2 involvement: case report with 2-year follow-up and description of operative technique. (22612241)
2012
7
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
8
Generation of chordoma cell line JHC7 and the identification of Brachyury as a novel molecular target. (21699479)
2011
9
Spontaneous debulking of middle fossa chordoma extension after transnasal petroclival biopsy--report of a case. (21863523)
2011
10
Feasibility of proton beam therapy for chordoma and chondrosarcoma of the skull base. (22451826)
2011
11
Axial chordoma and parachordoma (soft tissue chordoma): two of a kind: report of two cases with primary diagnosis on fine-needle cytology samples. (20730897)
2011
12
Pediatric metastatic sacrococcygeal chordoma treated with surgery. (21341180)
2011
13
Primary chordoma of the lung. (20103267)
2010
14
Loss of SMARCB1/INI1 expression in poorly differentiated chordomas. (21057957)
2010
15
Occlusion of the abdominal aorta by balloon dilation catheter assisting surgical excision of a sacrum chordoma: case report. (19621292)
2009
16
Changes in tumor volume of sacral chordoma after carbon ion radiotherapy. (19820514)
2009
17
Chordoma in paranasal sinuses. (19625846)
2009
18
A combined posterior, lateral, and anterior approach to ventrolaterally situated chordoma of the upper cervical spine. (19735849)
2009
19
Upper cervical spine chordoma of C2-C3. (19221808)
2009
20
Chordoma: a rare presentation as solitary ivory vertebra. (18296805)
2008
21
Sacral chordoma: can local recurrence after sacrectomy be predicted? (18584264)
2008
22
Intradural spinal seeding and fatal progression of a sacrococcygeal chordoma: a case report. (18706240)
2008
23
Chondroid chordoma of petrous temporal bone with extensive recurrence and pulmonary metastases. (18688126)
2008
24
Giant chordoma occupying the whole abdominal cavity. (18428058)
2008
25
Expression of matrix metalloproteinases-1, -2, and -9; tissue inhibitors of matrix metalloproteinases-1 and -2; cathepsin B; urokinase plasminogen activator; and plasminogen activator inhibitor, type I in skull base chordoma. (17949787)
2008
26
Cervical spinal chordoma with chondromatous component in a dog. (18725469)
2008
27
The role of extracellular factors in human metastatic chordoma cell growth in vitro. (18091487)
2007
28
Skull base chordoma mimicking a preauricular neoplasm in a child: clinicopathological features and biological behaviour. (17276078)
2007
29
Chordoma. (17545801)
2007
30
Sacral chordoma. (17629241)
2007
31
Chordoma detected on F-18 FDG PET. (16855447)
2006
32
Extra-axial chordoma. (17149966)
2006
33
An intradural skull base chordoma presenting with acute intratumoral hemorrhage. (16936398)
2006
34
Incipient chordoma: a report of two cases of early-stage chordoma arising from benign notochordal cell tumors. (15803192)
2005
35
Chordoma: radiological-pathological correlation. (16026431)
2005
36
Neck pain: common complaint, uncommon diagnosis--symptomatic clival chordoma. (14746431)
2004
37
Chordomas: a histological and immunohistochemical study of cases with and without recurrent tumors. (15584212)
2004
38
Use of radio-frequency ablation for the palliative treatment of sacral chordoma. (15502143)
2004
39
Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. (15236319)
2004
40
Superior mediastinal chordoma presenting as a bilobed paravertebral mass. (12559357)
2003
41
Chondroid chordoma of the cervical spine. (12382136)
2002
42
Chordoma. (11827649)
2002
43
Expression of E-cadherin in chordomas: diagnostic marker and possible role of tumor cell affinity. (11964040)
2002
44
Dedifferentiated chordoma of the skull base. A case report]. (12483123)
2002
45
First histologically confirmed case of a classic chordoma arising in a precursor benign notochordal lesion: differential diagnosis of benign and malignant notochordal lesions. (12107574)
2002
46
Apoptotic and proliferative markers in chordomas: a study of 26 tumors. (12170453)
2002
47
Decisive role of immunocytochemistry in aspiration cytology of chordoma of the clivus: a case report with review of the literature. (8035126)
1994
48
Chondroid chordoma--a variant of chordoma. A morphologic and immunohistochemical study. (7506477)
1994
49
Microtubule aggregates in a clival chordoma. (8215832)
1993
50
Immunohistochemical distinction of classic and chondroid chordomas. (1722044)
1991

Genetic Variations for Chordoma

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Expression for genes affiliated with Chordoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN
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Pathways related to Chordoma according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Chordoma

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB
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Compounds related to Chordoma according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1estrogen4410.9GFAP
2s 1004410.9GFAP, VIM, MUC1, DES, S100B
3glycogen44 2411.9MET, KRT18, GFAP
4reticulin4410.8GFAP, S100B, MUC1, DES, VIM
5mucicarmine4410.8VIM, S100B, S100A1, DES, MUC1, KRT14
6eosin4410.8GFAP, S100B, VIM, MUC1
7b 7234410.8VIM, CEACAM3, KRT19, MUC1, DES, S100A1
8formaldehyde44 2411.8MUC1, LGALS3, KRT18, KRT19, GFAP, DES
9serine4410.8KRT14, KRT1, KRT19, GFAP, DES, S100B
10bromodeoxyuridine4410.8VIM, S100B, PDGFRB, DES, GFAP, KRT19
11biotin44 11 2412.8DES, MUC1, INHA, KRT1, S100A1, VIM
12adriamycin4410.8DES, MUC1, CEACAM3, VIM
13proline4410.8S100B, PDGFRB, LGALS3, KRT14, KRT1, MET
14agar4410.8JUP, VIM, PDGFRB, MUC1, MET, GFAP
15butyrate4410.8GFAP
16oxygen44 2411.8GFAP, S100B, MET, DES, MUC1, LGALS3
17threonine4410.8MUC1, GFAP, LGALS3, KRT14, KRT18, KRT1
18matrigel4410.8GFAP, KRT18, LGALS3, MET, PDGFRB, VIM
19testosterone44 59 11 2413.8S100B, PDGFRB, MET, DES, INHA, KRT18
20hematoxylin4410.8KRT14, LGALS3, CEACAM3, KRT1, INHA, GFAP
21vegf4410.8CEACAM3, PDGFRB, S100B, JUP, DES, VIM
22retinoic acid44 2411.7VIM, JUP, S100B, LGALS3, KRT18, KRT1
23alanine4410.7MET, INHA, GFAP, KRT5, KRT14, KRT18
24iron44 2411.7VIM, S100B, S100A1, DES, KRT19, KRT18
25lipid4410.7KRT18, LGALS3, KRT14, KRT1, GFAP, MUC1
26lactate4410.7LGALS3, KRT18, KRT19, GFAP, DES, VIM
27progesterone44 59 28 11 2414.7KRT1, KRT5, KRT19, GFAP, INHA, MUC1
28cysteine4410.7DES, VIM, S100A1, GFAP, MET, KRT14
29paraffin4410.7KRT18, INHA, GFAP, KRT19, KRT5, KRT1
30creatinine4410.7GFAP, CEACAM3, KRT18, KRT19
31cisplatin44 49 59 1113.7LGALS3, KRT14, KRT19, GFAP, MUC1, MET
32tyrosine4410.7INHA, S100A1, KRT19, CEACAM3, MUC1, DES
33thymidine44 2411.7CEACAM3, KRT19, GFAP, MUC1, KRT18, DES
34glucose4410.7KRT14, MUC1, MET, PDGFRB, GFAP, KRT19
35calcium44 49 11 2413.7MET, LGALS3, PDGFRB, DES, S100B, MUC1
36acth4410.7S100B, MUC1, INHA, GFAP, LGALS3, CEACAM3
37arginine4410.7KRT5, GFAP, DES, MET, VIM, KRT1
38aspartate4410.7CEACAM3, KRT19, KRT18, VIM, S100B, KRT1
39orcein4410.7VIM, DES, S100B
40retinoid4410.6KRT1, KRT18, VIM, KRT19, KRT5, KRT14
41steroid4410.6INHA, KRT1, KRT18, CEACAM3, DES, KRT19
42p0024410.6KRT18, MET, JUP, DES, KRT19
4312-o-tetradecanoylphorbol 13-acetate4410.6MUC1, VIM, KRT1, MET, KRT5, DES
44methionine4410.5VIM, S100B, KRT14, GFAP, PDGFRB, DES
45nitric oxide44 11 2412.5LGALS3, S100B, S100A1, MET, DES, CEACAM3
46paclitaxel44 49 1112.5S100B, GFAP, KRT19, JUP, PDGFRB
47forskolin44 49 1112.4KRT18, GFAP, S100B, INHA, VIM, MUC1
48atp44 2811.4PDGFRB, VIM, KRT18, KRT19, GFAP, MET
49estradiol44 11 2412.3VIM, INHA, GFAP, DES, MUC1, KRT19
502-methoxyethanol4410.1VIM, KRT14, S100A1

GO Terms for genes affiliated with Chordoma

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16Gene Ontology
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Cellular components related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00591610.5DES, JUP
2intermediate filamentGO:00588210.4KRT14, VIM, JUP, DES, GFAP, KRT19
3keratin filamentGO:04509510.4KRT5, KRT1, KRT18, KRT14
4cytoplasmGO:00573710.3VIM, JUP, S100B, PDGFRB, T, MUC1
5Z discGO:03001810.1JUP, DES, KRT19

Biological processes related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:06002010.5GFAP, VIM
2hemidesmosome assemblyGO:03158110.5KRT14, KRT5
3cell junction assemblyGO:03432910.4KRT14, KRT5, JUP
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chordoma

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet