MCID: CHR072
MIFTS: 54

Chordoma malady

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

Summaries for Chordoma

About this section


NIH Rare Diseases:41 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:9 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...

Aliases & Classifications for Chordoma

About this section
Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 10diseasecard, 20GeneTests, 22GTR, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Chordoma, Aliases & Descriptions:

Name: Chordoma 9 41 21 11 43 47 60
Chordoma, Susceptibility to 10 20 22
 
Notochordal Sarcoma 41 47
Notochordoma 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
chordoma:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (United States); Age of onset: Adult; Age of death: any age


External Ids:

Disease Ontology9 DOID:3302
MeSH33 D002817
NCIt38 C2947
SNOMED-CT55 50007008
Orphanet47 178
MESH via Orphanet34 D002817
UMLS via Orphanet61 C0008487

Related Diseases for Chordoma

About this section

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

About this section

Drugs & Therapeutics for Chordoma

About this section

Drug clinical trials:

Search ClinicalTrials for Chordoma

Search NIH Clinical Center for Chordoma

Genetic Tests for Chordoma

About this section

Genetic tests related to Chordoma:

id Genetic test Affiliating Genes
1 Chordoma20 22

Anatomical Context for Chordoma

About this section

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

About this section

MGI Mouse Phenotypes related to Chordoma:

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

Publications for Chordoma

About this section

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

About this section

Expression for genes affiliated with Chordoma

About this section
Search GEO for disease gene expression data for Chordoma.

Pathways for genes affiliated with Chordoma

About this section

Compounds for genes affiliated with Chordoma

About this section

Compounds related to Chordoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1orcein439.5S100B, VIM, DES
2phalloidin439.3VIM, JUP, DES
3mucicarmine439.2DES, VIM, MUC1, S100B
4b 723439.2S100B, MUC1, VIM, DES
5progestin439.2MUC1, VIM, DES
6eosin439.1GFAP, VIM, MUC1, S100B
7dbc-amp439.0GFAP, VIM, S100B
812-o-tetradecanoylphorbol 13-acetate438.9KRT1, MUC1, VIM, DES
9matrigel438.9LGALS3, MUC1, VIM, GFAP
10butyrate438.8GFAP, VIM, MUC1, LGALS3
11ganglioside438.8VIM, GFAP, DES
12paclitaxel43 49 1210.7S100B, VIM, JUP, GFAP
13fatty acid438.6S100B, LGALS3, INHA, DES
14ethanol43 49 24 1211.6DES, GFAP, MUC1, S100B
15biotin43 24 1210.6DES, INHA, VIM, MUC1, KRT1
16methionine438.6S100B, VIM, GFAP, DES
17proline438.6DES, VIM, LGALS3, S100B, KRT1
18acetylcholine43 49 28 24 1212.5DES, GFAP, VIM, S100B
19forskolin43 49 1210.5S100B, MUC1, VIM, GFAP, INHA
20acth438.5INHA, GFAP, MUC1, LGALS3, S100B
21s 100438.4DES, GFAP, VIM, MUC1, S100B
22reticulin438.4DES, GFAP, VIM, MUC1, S100B
23glutamine438.4S100B, LGALS3, VIM, GFAP
24agar438.4GFAP, JUP, VIM, MUC1, LGALS3
25dexamethasone43 49 28 1211.4GFAP, JUP, VIM, MUC1, S100B
26creatinine438.3DES, GFAP, VIM, MUC1, S100B
27lactate438.3DES, GFAP, VIM, LGALS3, S100B
28estradiol43 24 1210.3DES, INHA, GFAP, VIM, MUC1
29alanine438.2INHA, GFAP, VIM, LGALS3, S100B
30glutamate438.2KRT1, S100B, LGALS3, VIM, GFAP
31bromodeoxyuridine438.2DES, GFAP, VIM, S100B, KRT1
32formaldehyde43 249.0DES, GFAP, VIM, MUC1, LGALS3, S100B
33iron43 249.0DES, GFAP, VIM, S100B
34lipid438.0GFAP, VIM, MUC1, LGALS3, S100B, KRT1
35glycogen43 249.0DES, GFAP, VIM, MUC1, LGALS3, S100B
36oxygen43 249.0DES, GFAP, MUC1, LGALS3, S100B
37cysteine437.9DES, GFAP, VIM, MUC1, LGALS3, S100B
38cyclic amp43 248.9DES, INHA, GFAP, VIM, MUC1, S100B
39threonine437.8DES, GFAP, MUC1, LGALS3, S100B, KRT1
40arginine437.8DES, GFAP, VIM, LGALS3, S100B, KRT1
41vegf437.5DES, GFAP, JUP, VIM, MUC1, LGALS3
42testosterone43 59 24 1210.4DES, INHA, GFAP, VIM, MUC1, S100B
43calcium43 49 24 1210.2DES, GFAP, JUP, MUC1, LGALS3, S100B
44hematoxylin437.1DES, INHA, GFAP, VIM, MUC1, LGALS3
45progesterone43 28 59 24 1211.0DES, INHA, GFAP, VIM, MUC1, LGALS3
46retinoic acid43 248.0DES, GFAP, JUP, VIM, MUC1, LGALS3
47serine436.9DES, GFAP, JUP, VIM, MUC1, LGALS3
48tyrosine436.9DES, INHA, GFAP, JUP, MUC1, LGALS3
49paraffin436.5KRT1, DES, S100B, LGALS3, MUC1, VIM
50estrogen436.5DES, INHA, GFAP, JUP, VIM, MUC1

GO Terms for genes affiliated with Chordoma

About this section

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

Products for genes affiliated with Chordoma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chordoma

About this section
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