MCID: CHR072
MIFTS: 66

Chordoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories
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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 CHDM (Chordoma), and among its related pathways are Cell adhesion Cell matrix glycoconjugates and Advanced glycosylation endproduct receptor signaling. The compounds orcein and b 723 have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and lymph node, and related mouse phenotypes are normal and muscle.

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:65 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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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 9diseasecard, 20GeneTests, 22GTR, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Chordoma, Aliases & Descriptions:

Name: Chordoma 8 42 21 46 10 44 48 62
Chordoma, Susceptibility to 9 20 22
 
Notochordoma 8 62
Notochordal Sarcoma 48


Classifications:

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


External Ids:

Disease Ontology8 DOID:3302
NCIt39 C2947
OMIM46 215400
SNOMED-CT57 50007008
MeSH34 D002817
MESH via Orphanet35 D002817
UMLS via Orphanet63 C0008487

Related Diseases for Chordoma

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

(show top 50)    (show all 195)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis30.9GFAP, VIM, S100B
2myxopapillary ependymoma30.7S100B, GFAP
3fibrous histiocytoma30.5DES, VIM, S100B
4paraganglioma30.5DES, VIM
5rhabdoid meningioma30.4VIM, GFAP
6pituitary adenoma30.4LGALS3, JUP, INHA
7ependymoma30.4GFAP, VIM, MUC1, S100B
8chondrosarcoma30.4DES, JUP, VIM, MUC1, MET, S100B
9myoepithelioma30.2VIM, S100B, KRT14, GFAP
10giant cell tumor30.2S100B, MUC1, VIM, DES
11meningioma29.9INHA, GFAP, JUP, VIM, MUC1, S100B
12neurofibroma29.9VIM, MUC1, MET, S100B
13pleomorphic adenoma29.8DES, GFAP, VIM, MUC1, S100B, KRT14
14adenoma29.6INHA, JUP, MUC1, MET, LGALS3, KRT14
15sarcoma29.5DES, JUP, VIM, MUC1, MET, S100B
16astrocytoma29.4INHA, GFAP, VIM, MET, LGALS3, S100B
17adenocarcinoma28.7INHA, JUP, VIM, MUC1, MET, LGALS3
18chondroid chordoma10.8
19cervicitis10.7
20clivus chordoma10.7
21spinal chordoma10.6
22adenomatoid tumor10.6VIM
23eccrine porocarcinoma10.6MUC1
24hidradenoma10.5MUC1
25multicystic dysplastic kidney10.5LGALS3
26cystadenocarcinoma10.5MUC1
27subependymal giant cell astrocytoma10.5GFAP
28giant cell glioblastoma10.5GFAP
29infantile myofibromatosis10.5DES
30mixed glioma10.5GFAP
31epidermolytic hyperkeratosis10.5KRT1
32neurilemmoma10.5GFAP
33fibrous meningioma10.5MUC1, S100B
34clear cell ependymoma10.5MUC1, VIM
35epithelial-myoepithelial carcinoma10.4KRT14
36hailey-hailey disease10.4JUP
37epidermolysis bullosa simplex-mp10.4KRT5
38secretory meningioma10.4VIM, MUC1
39sertoli-leydig cell tumor10.4INHA, MUC1
40desmoplastic small round cell tumor10.4DES, MUC1
41epithelioid leiomyosarcoma10.4DES, VIM
42pseudosarcomatous fibromatosis10.4DES, VIM
43papillary ependymoma10.4GFAP, S100B
44choroid plexus carcinoma10.4GFAP, S100B
45astroblastoma10.4GFAP, VIM
46cutaneous fibrous histiocytoma10.4S100B, DES
47alveolar soft part sarcoma10.4DES, VIM
48gemistocytic astrocytoma10.4S100B, GFAP
49malignant peripheral nerve sheath tumor10.4VIM, S100B
50pineocytoma10.4S100B, GFAP

Graphical network of the top 20 diseases related to Chordoma:



Diseases related to chordoma

Symptoms for Chordoma

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Clinical features from OMIM:

215400

Drugs & Therapeutics for Chordoma

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Drug clinical trials:

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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:

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

Animal Models for Chordoma or affiliated genes

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MGI Mouse Phenotypes related to Chordoma:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4T, INHA, GFAP, MUC1, MET, S100B
2MP:00053698.3MET, VIM, JUP, GFAP, DES
3MP:00053888.1JUP, VIM, MET, LGALS3, KRT14
4MP:00053918.0GFAP, VIM, MUC1, MET, KRT14
5MP:00036317.7T, GFAP, JUP, VIM, MET, LGALS3
6MP:00053867.5DES, T, GFAP, VIM, MET, S100B
7MP:00053787.2T, INHA, GFAP, JUP, VIM, MET
8MP:00107717.2T, JUP, MUC1, LGALS3, S100B, KRT14
9MP:00053857.2DES, T, INHA, GFAP, JUP, VIM
10MP:00053877.2INHA, GFAP, JUP, VIM, MET, LGALS3
11MP:00053817.1T, INHA, GFAP, MUC1, MET, LGALS3
12MP:00053766.3KRT1, DES, T, INHA, GFAP, JUP
13MP:00107685.8DES, T, INHA, GFAP, JUP, VIM

Publications for Chordoma

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Articles related to Chordoma:

(show top 50)    (show all 634)
idTitleAuthorsYear
1
Anaplastic chordoma with loss of INI1 and brachyury expression in a 2-year-old girl. (25074874)
2014
2
Giant petroclival primary intradural chordoma: case report and systematic review of the literature. (25083378)
2014
3
Development of transplantable human chordoma xenograft for preclinical assessment of novel therapeutic strategies. (24343111)
2013
4
Comparison of human chordoma cell-kill for 290 MeV/n carbon ions versus 70 MeV protons in vitro. (23587329)
2013
5
Long-term outcome following surgical treatment of sacral chordoma. (24249252)
2013
6
Erlotinib inhibits growth of a patient-derived chordoma xenograft. (24260133)
2013
7
Wide resection of sacral chordoma via a posterior approach. (22038441)
2012
8
Intradural chordoma mimicking a lateral sphenoid wing meningioma: a case report. (23319197)
2012
9
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
10
A rare case of jugular foramen chordoma with an unusual extension. (21576564)
2011
11
Total en bloc spondylectomy for L2 chordoma: a case report. (21928701)
2011
12
Generation of chordoma cell line JHC7 and the identification of Brachyury as a novel molecular target. (21699479)
2011
13
Gain of chromosome 7 by chromogenic in situ hybridization (CISH) in chordomas is correlated to c-MET expression. (20617367)
2011
14
Primary extranotochordal cervical chordoma masquerading as a thyroid neoplasm: a case report. (21053549)
2010
15
Intradural cranial chordoma. (20860957)
2010
16
Cervical chordoma in childhood without typical vertebral bony destruction: case report and review of the literature. (19525829)
2009
17
Chordoma and chondrosarcoma gene profile: implications for immunotherapy. (18641983)
2009
18
Immunohistochemical comparison of chordoma with chondrosarcoma, myxopapillary ependymoma, and chordoid meningioma. (19521276)
2009
19
Sacral chordoma en-bloc resection and lumbar-iliac stabilization. (18641880)
2008
20
Transrectal EUS-guided FNA biopsy of a presacral chordoma--report of a case and review of the literature. (18442211)
2008
21
Expression of hepatocyte growth factor and c-MET in skull base chordoma. (17948912)
2008
22
Entire infrasellar craniopharyngioma simulating clival chordoma. (18036439)
2007
23
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
24
Overexpressions of nerve growth factor and its tropomyosin-related kinase A receptor on chordoma cells. (17700442)
2007
25
Chordoma cutis. (18076624)
2007
26
The role of extracellular factors in human metastatic chordoma cell growth in vitro. (18091487)
2007
27
Spinal chordoma of the dorslumbar junction. (16883772)
2006
28
Molecular and biochemical analyses of platelet-derived growth factor receptor (PDGFR) B, PDGFRA, and KIT receptors in chordomas. (17145809)
2006
29
Recurrent and metastatic clivus chordoma: systemic palliative therapy retards disease progression. (16222158)
2005
30
Management of sacrococcygeal chordoma mimicking a pilonidal sinus: report of a case. (15959793)
2005
31
Disappearance of a cervical spine chordoma after nonoperative treatment. A case report. (16085625)
2005
32
Soft tissue sacrococcygeal chordoma with intracytoplasmic filamentous inclusions. (16325512)
2005
33
Operative management of sacral chordoma. (16203885)
2005
34
Histogenesis of intralesional fibrous septum in chordoma. (16136750)
2005
35
FNAC diagnosis of a pre-sacral chordoma: a case report. (16758685)
2005
36
Chondroid chordoma of the nasal septum. (12578458)
2003
37
Spinal chordoma of the terminal filum. Case report. (12450288)
2002
38
Chondroid chordoma of the cervical spine. (12382136)
2002
39
Chordoma. (11827649)
2002
40
A unique presentation of retroclival chordoma. (12571385)
2002
41
Giant notochordal hamartoma of intraosseous origin: a newly reported benign entity to be distinguished from chordoma. Report of two cases. (11810168)
2001
42
Crush preparation findings of &quot;sarcomatoid&quot; chordoma of the sacrum: report of a case with histologic, immunohistochemical, and ultrastructural correlation. (11747239)
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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Expression patterns in normal tissues for genes affiliated with Chordoma

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Pathways for genes affiliated with Chordoma

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Pathways related to Chordoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9LGALS3, MUC1
29.9LGALS3, S100B
3
Show member pathways
Signaling by Aurora kinases37
Aurora C signaling37
9.8VIM, DES
49.7JUP, VIM
59.4LGALS3, VIM, GFAP
6
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.3DES, GFAP, VIM
79.0KRT1, KRT14, JUP
88.9KRT5, VIM, DES
9
Show member pathways
8.5MET, MUC1, VIM, GFAP, DES
108.4KRT5, KRT1, KRT14, VIM

Compounds for genes affiliated with Chordoma

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Compounds related to Chordoma according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1orcein449.8VIM, S100B, DES
2b 723449.6VIM, DES, S100B, MUC1
3eosin449.6GFAP, S100B, VIM, MUC1
4phalloidin449.5JUP, VIM, DES
5adriamycin449.3MET, MUC1, DES, VIM
6s 100449.2GFAP, VIM, DES, S100B, MUC1
7reticulin449.2S100B, DES, MUC1, VIM, GFAP
8acth449.2MUC1, INHA, GFAP, LGALS3, S100B
9biotin44 24 1111.2INHA, MUC1, VIM, DES, KRT1
10forskolin44 50 1111.1VIM, S100B, MUC1, GFAP, INHA
11calcipotriol44 61 28 1112.0KRT5, VIM, KRT14
12mucicarmine449.0DES, KRT14, S100B, MUC1, VIM
13estradiol44 24 1111.0MUC1, VIM, INHA, DES, GFAP
14matrigel448.9LGALS3, MET, MUC1, VIM, GFAP
15lactate448.9DES, GFAP, VIM, S100B, LGALS3
16formaldehyde44 249.8DES, GFAP, VIM, MUC1, LGALS3, S100B
17butyrate448.8KRT14, LGALS3, MUC1, VIM, GFAP
18valine448.8KRT1, S100B, KRT5, VIM
19creatinine448.8GFAP, DES, VIM, MUC1, S100B
20cyclic amp44 249.7DES, INHA, GFAP, S100B, VIM, MUC1
21methionine448.7DES, KRT14, VIM, GFAP, S100B
22thymidine44 249.7S100B, MET, MUC1, DES, GFAP
23iron44 249.6DES, GFAP, VIM, S100B, KRT14
24heparin44 28 24 1111.6VIM, MET, LGALS3, S100B, DES
25fatty acid448.5DES, KRT5, INHA, LGALS3, S100B
26agar448.5JUP, LGALS3, VIM, MET, MUC1, GFAP
27bromodeoxyuridine448.4DES, GFAP, S100B, KRT14, KRT1, VIM
28oxygen44 249.3S100B, LGALS3, MUC1, GFAP, DES, MET
29glycogen44 249.3LGALS3, S100B, VIM, MUC1, GFAP, DES
3012-o-tetradecanoylphorbol 13-acetate448.2DES, VIM, MUC1, MET, KRT1, KRT5
31lysine448.1VIM, DES, KRT1, KRT14, KRT5
32aspartate448.1S100B, VIM, GFAP, KRT1, KRT5
33cisplatin44 50 61 1111.1LGALS3, JUP, KRT14, MET, MUC1, GFAP
34leucine447.9KRT1, GFAP, VIM, S100B, KRT5
35vegf447.8GFAP, LGALS3, MET, JUP, MUC1, VIM
36lipid447.7MET, S100B, MUC1, VIM, KRT1, KRT14
37cysteine447.7VIM, MUC1, DES, KRT14, S100B, LGALS3
38hematoxylin447.5S100B, KRT14, KRT1, LGALS3, MUC1, DES
39proline447.2VIM, MET, LGALS3, S100B, KRT14, DES
40alanine447.2KRT5, INHA, MET, LGALS3, S100B, GFAP
41testosterone44 61 24 1110.1MUC1, MET, S100B, KRT1, KRT5, INHA
42threonine446.8KRT5, KRT1, KRT14, MET, LGALS3, S100B
43arginine446.8MET, KRT1, GFAP, VIM, S100B, LGALS3
44calcium44 50 24 119.3S100B, KRT14, KRT1, LGALS3, MET, MUC1
45progesterone44 28 61 24 1110.2LGALS3, MET, S100B, KRT14, KRT5, MUC1
46retinoic acid44 247.0LGALS3, KRT5, KRT1, KRT14, DES, S100B
47serine446.0S100B, KRT14, KRT1, KRT5, VIM, LGALS3
48tyrosine446.0DES, INHA, KRT5, KRT1, GFAP, KRT14
49estrogen445.7INHA, DES, KRT5, GFAP, JUP, VIM
50paraffin445.7VIM, DES, INHA, GFAP, JUP, MUC1

GO Terms for genes affiliated with Chordoma

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Cellular components related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:0059169.5JUP, DES
2keratin filamentGO:0450958.4KRT5, KRT1, KRT14
3intermediate filamentGO:0058827.4KRT5, KRT14, VIM, JUP, GFAP, DES
4extracellular vesicular exosomeGO:0700627.2JUP, VIM, MUC1, LGALS3, KRT14, KRT1
5cytoplasmGO:0057376.5T, GFAP, JUP, VIM, MUC1, LGALS3

Biological processes related to Chordoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:0600209.9VIM, GFAP
2astrocyte developmentGO:0140029.8VIM, GFAP
3intermediate filament organizationGO:0451099.8GFAP, VIM
4muscle filament slidingGO:0300499.8VIM, DES
5long-term synaptic potentiationGO:0602919.6S100B, GFAP
6negative regulation of neuron projection developmentGO:0109779.4VIM, GFAP
7hemidesmosome assemblyGO:0315819.0KRT5, KRT14
8cell junction assemblyGO:0343298.7KRT5, KRT14, JUP

Molecular functions related to Chordoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:0971109.4KRT5, VIM
2structural constituent of cytoskeletonGO:0052007.8KRT5, KRT14, VIM, GFAP, DES
3protein bindingGO:0055155.4VIM, JUP, INHA, DES, MUC1, MET

Products for genes affiliated with Chordoma

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet