MCID: CHR072
MIFTS: 54

Chordoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Aliases & Classifications for Chordoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 34MESH via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Chordoma:

Name: Chordoma 8 42 21 10 44 48 61
Chordoma, Susceptibility to 9 20 22
 
Notochordal Sarcoma 42 48
Notochordoma 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
chordoma:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (United States); Age of onset: Adult; Age of death: any age


External Ids:

Disease Ontology8 DOID:3302
MeSH33 D002817
NCIt39 C2947
SNOMED-CT56 50007008
Orphanet48 178
MESH via Orphanet34 D002817
UMLS via Orphanet62 C0008487

Summaries for Chordoma

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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 based summary: Chordoma, also known as chordoma, susceptibility to, is related to tuberous sclerosis and myxopapillary ependymoma. An important gene associated with Chordoma is T (T, brachyury homolog (mouse)), and among its related pathways are Cell adhesion Cell matrix glycoconjugates and Advanced glycosylation endproduct receptor signaling. The compounds orcein and phalloidin have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and lymph node, and related mouse phenotypes are digestive/alimentary and integument.

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...

Related Diseases for Chordoma

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

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis30.7GFAP, VIM, S100B
2myxopapillary ependymoma30.5GFAP, S100B
3chondrosarcoma30.4DES, JUP, VIM, MUC1, S100B
4fibrous histiocytoma30.3DES, VIM, S100B
5myoepithelioma30.3GFAP, VIM, S100B
6neurofibroma30.2VIM, MUC1, S100B
7rhabdoid meningioma30.2GFAP, VIM
8ependymoma30.1GFAP, VIM, MUC1, S100B
9adenoma30.0INHA, JUP, MUC1, LGALS3
10pituitary adenoma30.0LGALS3, JUP, INHA
11paraganglioma30.0S100B, GFAP
12giant cell tumor29.9DES, VIM, MUC1, S100B
13pleomorphic adenoma29.8S100B, MUC1, VIM, GFAP, DES
14sarcoma29.6DES, JUP, VIM, MUC1, S100B
15astrocytoma29.5INHA, GFAP, VIM, LGALS3, S100B
16adenocarcinoma29.5INHA, JUP, VIM, MUC1, LGALS3, KRT1
17chondroid chordoma10.8
18cervicitis10.7
19clivus chordoma10.7
20spinal chordoma10.6
21adenomatoid tumor10.5VIM
22eccrine porocarcinoma10.5MUC1
23hidradenoma10.5MUC1
24cystadenocarcinoma10.5MUC1
25multicystic dysplastic kidney10.5LGALS3
26infantile myofibromatosis10.4DES
27fibrous meningioma10.4S100B, MUC1
28subependymal giant cell astrocytoma10.4GFAP
29giant cell glioblastoma10.4GFAP
30clear cell ependymoma10.4VIM, MUC1
31mixed glioma10.4GFAP
32neurilemmoma10.4GFAP
33clivus chondroid chordoma10.3
34mediastinitis10.3
35parachordoma10.3
36secretory meningioma10.3VIM, MUC1
37sertoli-leydig cell tumor10.3INHA, MUC1
38sacrum chordoma10.3
39glomus tumor10.3DES, VIM
40desmoplastic small round cell tumor10.3MUC1, DES
41angiosarcoma10.3MUC1, VIM
42epithelioid leiomyosarcoma10.3DES, VIM
43pseudosarcomatous fibromatosis10.3DES, VIM
44malignant peripheral nerve sheath tumor10.3VIM, S100B
45cutaneous fibrous histiocytoma10.3DES, S100B
46alveolar soft-part sarcoma10.3DES, VIM
47perineurioma10.2VIM, MUC1, S100B
48papillary ependymoma10.2GFAP, S100B
49choroid plexus carcinoma10.2S100B, GFAP
50astroblastoma10.2GFAP, VIM

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to chordoma

Symptoms for Chordoma

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Drugs & Therapeutics for Chordoma

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Drug clinical trials:

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Search NIH Clinical Center for Chordoma

Genetic Tests for Chordoma

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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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MalaCards organs/tissues related to Chordoma:

31
Bone, Lung, Lymph node, Thyroid, Pituitary, Liver, Eye, Brain, Spinal cord, Heart, Skeletal muscle, Breast, Ovary, Testes, Endothelial, Pineal

Animal Models for Chordoma or affiliated genes

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MGI Mouse Phenotypes related to Chordoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.2LGALS3, MUC1, T, INHA, GFAP
2MP:00107718.2LGALS3, KRT1, S100B, MUC1, T, JUP
3MP:00028737.9GFAP, T, INHA, MUC1, S100B
4MP:00053787.5INHA, T, VIM, JUP, KRT1, GFAP
5MP:00036317.4LGALS3, JUP, GFAP, T, VIM, KRT1
6MP:00053877.4KRT1, VIM, LGALS3, JUP, GFAP, INHA
7MP:00053856.6T, DES, INHA, GFAP, JUP, VIM
8MP:00107686.6DES, JUP, VIM, GFAP, INHA, T
9MP:00053766.3T, LGALS3, DES, MUC1, KRT1, INHA

Publications for Chordoma

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Articles related to Chordoma:

(show top 50)    (show all 653)
idTitleAuthorsYear
1
Combined therapy for distant metastasis of sacral chordoma. (25649759)
2015
2
Overexpression of Raf-1 and ERK1/2 in sacral chordoma and association with tumor recurrence. (25755752)
2015
3
Carbon ion beam treatment in patients with primary and recurrent sacrococcygeal chordoma. (25737378)
2015
4
Anaplastic chordoma with loss of INI1 and brachyury expression in a 2-year-old girl. (25074874)
2014
5
Giant petroclival primary intradural chordoma: case report and systematic review of the literature. (25083378)
2014
6
Development of transplantable human chordoma xenograft for preclinical assessment of novel therapeutic strategies. (24343111)
2013
7
Comparison of human chordoma cell-kill for 290 MeV/n carbon ions versus 70 MeV protons in vitro. (23587329)
2013
8
Long-term outcome following surgical treatment of sacral chordoma. (24249252)
2013
9
Erlotinib inhibits growth of a patient-derived chordoma xenograft. (24260133)
2013
10
Wide resection of sacral chordoma via a posterior approach. (22038441)
2012
11
Intradural chordoma mimicking a lateral sphenoid wing meningioma: a case report. (23319197)
2012
12
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
13
A rare case of jugular foramen chordoma with an unusual extension. (21576564)
2011
14
Total en bloc spondylectomy for L2 chordoma: a case report. (21928701)
2011
15
Generation of chordoma cell line JHC7 and the identification of Brachyury as a novel molecular target. (21699479)
2011
16
Gain of chromosome 7 by chromogenic in situ hybridization (CISH) in chordomas is correlated to c-MET expression. (20617367)
2011
17
Primary extranotochordal cervical chordoma masquerading as a thyroid neoplasm: a case report. (21053549)
2010
18
Intradural cranial chordoma. (20860957)
2010
19
Cervical chordoma in childhood without typical vertebral bony destruction: case report and review of the literature. (19525829)
2009
20
Chordoma and chondrosarcoma gene profile: implications for immunotherapy. (18641983)
2009
21
Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. (19521276)
2009
22
Sacral chordoma en-bloc resection and lumbar-iliac stabilization. (18641880)
2008
23
Transrectal EUS-guided FNA biopsy of a presacral chordoma--report of a case and review of the literature. (18442211)
2008
24
Expression of hepatocyte growth factor and c-MET in skull base chordoma. (17948912)
2008
25
Entire infrasellar craniopharyngioma simulating clival chordoma. (18036439)
2007
26
Analysis of immunohistochemical expression of p53 and the proliferation marker Ki-67 antigen in skull base chordomas: relationships between their expression and prognosis. (18095132)
2007
27
Overexpressions of nerve growth factor and its tropomyosin-related kinase A receptor on chordoma cells. (17700442)
2007
28
Chordoma cutis. (18076624)
2007
29
Spinal chordoma of the dorslumbar junction. (16883772)
2006
30
Molecular and biochemical analyses of platelet-derived growth factor receptor (PDGFR) B, PDGFRA, and KIT receptors in chordomas. (17145809)
2006
31
Recurrent and metastatic clivus chordoma: systemic palliative therapy retards disease progression. (16222158)
2005
32
Management of sacrococcygeal chordoma mimicking a pilonidal sinus: report of a case. (15959793)
2005
33
Disappearance of a cervical spine chordoma after nonoperative treatment. A case report. (16085625)
2005
34
Soft tissue sacrococcygeal chordoma with intracytoplasmic filamentous inclusions. (16325512)
2005
35
Operative management of sacral chordoma. (16203885)
2005
36
Histogenesis of intralesional fibrous septum in chordoma. (16136750)
2005
37
Chondroid chordoma of the nasal septum. (12578458)
2003
38
Spinal chordoma of the terminal filum. Case report. (12450288)
2002
39
Chondroid chordoma of the cervical spine. (12382136)
2002
40
Chordoma. (11827649)
2002
41
A unique presentation of retroclival chordoma. (12571385)
2002
42
Giant notochordal hamartoma of intraosseous origin: a newly reported benign entity to be distinguished from chordoma. Report of two cases. (11810168)
2001
43
Sarcomatoid chordoma: chordoma with a massive malignant spindle-cell component. (11271555)
2000
44
Cytokeratin subtyping in chordomas and the fetal notochord: an immunohistochemical analysis of aberrant expression. (9195570)
1997
45
Significance of immunohistochemical study in the diagnosis and differential diagnosis of chordoma]. (8697996)
1995
46
Immunohistochemical and electron microscopic studies on intracranial chordomas: difference between typical chordomas and chondroid chordomas. (7512865)
1994
47
Immunohistochemical distinction of classic and chondroid chordomas. (1722044)
1991
48
Immunohistochemistry of ecchordosis physaliphora and chordoma. (1703453)
1990
49
The nature of cytoplasmic vacuoles in chordoma cells. A correlative enzyme and electron microscopic histochemical study. (2287590)
1990
50
Chondroid chordoma: a low-grade chondrosarcoma and its differential diagnosis. (2673669)
1989

Variations for Chordoma

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Expression for genes affiliated with Chordoma

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Search GEO for disease gene expression data for Chordoma.

Pathways for genes affiliated with Chordoma

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Compounds for genes affiliated with Chordoma

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Compounds related to Chordoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1orcein449.5DES, S100B, VIM
2phalloidin449.3DES, JUP, VIM
3mucicarmine449.2DES, VIM, MUC1, S100B
4b 723449.2S100B, DES, MUC1, VIM
5progestin449.2VIM, MUC1, DES
6eosin449.1GFAP, VIM, MUC1, S100B
7dbc-amp449.0GFAP, VIM, S100B
812-o-tetradecanoylphorbol 13-acetate448.9DES, VIM, MUC1, KRT1
9matrigel448.9VIM, GFAP, LGALS3, MUC1
10butyrate448.8MUC1, GFAP, VIM, LGALS3
11ganglioside448.8VIM, GFAP, DES
12paclitaxel44 50 1110.7S100B, JUP, VIM, GFAP
13fatty acid448.6DES, INHA, S100B, LGALS3
14ethanol44 50 24 1111.6GFAP, DES, MUC1, S100B
15biotin44 24 1110.6KRT1, MUC1, VIM, INHA, DES
16methionine448.6DES, GFAP, S100B, VIM
17proline448.6S100B, KRT1, DES, VIM, LGALS3
18acetylcholine44 50 28 24 1112.5GFAP, S100B, DES, VIM
19forskolin44 50 1110.5VIM, MUC1, GFAP, INHA, S100B
20acth448.5MUC1, INHA, GFAP, LGALS3, S100B
21s 100448.4DES, GFAP, VIM, MUC1, S100B
22reticulin448.4S100B, MUC1, VIM, GFAP, DES
23glutamine448.4LGALS3, VIM, GFAP, S100B
24agar448.4GFAP, JUP, VIM, LGALS3, MUC1
25dexamethasone44 50 28 1111.4MUC1, JUP, S100B, GFAP, VIM
26creatinine448.3S100B, DES, GFAP, VIM, MUC1
27lactate448.3DES, GFAP, VIM, LGALS3, S100B
28estradiol44 24 1110.3GFAP, INHA, DES, VIM, MUC1
29alanine448.2VIM, LGALS3, GFAP, INHA, S100B
30glutamate448.2KRT1, GFAP, VIM, LGALS3, S100B
31bromodeoxyuridine448.2DES, GFAP, VIM, S100B, KRT1
32formaldehyde44 249.0S100B, DES, LGALS3, GFAP, MUC1, VIM
33iron44 249.0VIM, S100B, GFAP, DES
34lipid448.0KRT1, S100B, VIM, LGALS3, MUC1, GFAP
35glycogen44 249.0LGALS3, MUC1, VIM, GFAP, DES, S100B
36oxygen44 249.0S100B, DES, GFAP, MUC1, LGALS3
37cysteine447.9GFAP, S100B, VIM, MUC1, LGALS3, DES
38cyclic amp44 248.9DES, INHA, GFAP, VIM, MUC1, S100B
39threonine447.8LGALS3, MUC1, S100B, KRT1, GFAP, DES
40arginine447.8DES, S100B, KRT1, LGALS3, VIM, GFAP
41vegf447.5MUC1, LGALS3, DES, GFAP, JUP, S100B
42testosterone44 60 24 1110.4KRT1, GFAP, INHA, DES, MUC1, VIM
43calcium44 50 24 1110.2S100B, GFAP, DES, JUP, LGALS3, KRT1
44hematoxylin447.1DES, MUC1, INHA, GFAP, VIM, LGALS3
45progesterone44 28 60 24 1111.0INHA, S100B, LGALS3, MUC1, VIM, KRT1
46retinoic acid44 248.0VIM, JUP, KRT1, S100B, LGALS3, MUC1
47serine446.9DES, GFAP, MUC1, LGALS3, S100B, KRT1
48tyrosine446.9KRT1, S100B, LGALS3, MUC1, JUP, GFAP
49paraffin446.5INHA, GFAP, JUP, VIM, MUC1, DES
50estrogen446.5LGALS3, DES, INHA, GFAP, JUP, VIM

GO Terms for genes affiliated with Chordoma

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Cellular components related to Chordoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00059169.3JUP, DES
2cytoskeletonGO:00058569.1KRT1, VIM, JUP
3intermediate filamentGO:00058828.2VIM, JUP, GFAP, DES
4extracellular vesicular exosomeGO:00700628.0JUP, VIM, MUC1, LGALS3, KRT1
5cytoplasmGO:00057377.3T, GFAP, JUP, VIM, MUC1, LGALS3

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.5VIM, DES
2Bergmann glial cell differentiationGO:00600209.4VIM, GFAP
3astrocyte developmentGO:00140029.3VIM, GFAP
4intermediate filament organizationGO:00451099.3VIM, GFAP
5long-term synaptic potentiationGO:00602919.2GFAP, S100B
6negative regulation of neuron projection developmentGO:00109779.0VIM, GFAP

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.9MUC1, T
2structural constituent of cytoskeletonGO:00052008.6VIM, GFAP, DES
3protein bindingGO:00055156.6DES, INHA, JUP, VIM, MUC1, LGALS3

Sources for Chordoma

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet